Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample							
VPS13D	55187	broad.mit.edu	37	1	12460316	12460316	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:12460316G>A	uc001atv.2	+	61	11854	c.11713G>A	c.(11713-11715)GAG>AAG	p.E3905K	VPS13D_uc001atw.2_Missense_Mutation_p.E3880K|VPS13D_uc001atx.2_Missense_Mutation_p.E3092K|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3904					protein localization					ovary(4)|pancreas(1)	5	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)		TGAGGTCATCGAGACCGGCCC	0.552		NaN											0	0	0	0.024245	0	14	32									
CASP9	842	broad.mit.edu	37	1	15831211	15831211	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:15831211C>T	uc001awn.2	-	6	858	c.763G>A	c.(763-765)GGA>AGA	p.G255R	CASP9_uc001awm.1_Missense_Mutation_p.G255R|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G99R|CASP9_uc009voi.2_Missense_Mutation_p.G99R|CASP9_uc010obm.1_Missense_Mutation_p.G172R|CASP9_uc001awq.2_Missense_Mutation_p.G172R	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	255					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(1)|kidney(1)	2		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)		ACAGGGCATCCATCTGTGCCG	0.552		NaN											0	0	0	0.028581	0	15	63									
PTPRF	5792	broad.mit.edu	37	1	44086513	44086513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:44086513G>A	uc001cjr.2	+	32	5709	c.5369G>A	c.(5368-5370)GGG>GAG	p.G1790E	PTPRF_uc001cjs.2_Missense_Mutation_p.G1781E|PTPRF_uc001cju.2_Missense_Mutation_p.G1179E|PTPRF_uc009vwt.2_Missense_Mutation_p.G1350E|PTPRF_uc001cjv.2_Missense_Mutation_p.G1261E|PTPRF_uc001cjw.2_Missense_Mutation_p.G1016E	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1790	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCCAGGATGGGCAGTCAAGG	0.557		NaN											0	0	0	0.013537	0	12	36									
CYP4Z1	199974	broad.mit.edu	37	1	47548040	47548040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:47548040G>A	uc001cqu.1	+	4	402	c.399G>A	c.(397-399)TGG>TGA	p.W133*		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	133	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						GTTCTAAATGGAAAAAGCACC	0.458		NaN											0	0	0	0.004482	0	7	41									
LRRC7	57554	broad.mit.edu	37	1	70504189	70504189	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:70504189C>T	uc001dep.2	+	19	2598	c.2568C>T	c.(2566-2568)ACC>ACT	p.T856T	LRRC7_uc009wbg.2_Silent_p.T140T|LRRC7_uc001deq.2_Silent_p.T97T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	856						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AAGACAGGACCGCTTTTCCTT	0.463		NaN											0	0	0	0.016723	0	13	154									
GBP1	2633	broad.mit.edu	37	1	89523877	89523877	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:89523877G>C	uc001dmx.2	-	6	892	c.672C>G	c.(670-672)CTC>CTG	p.L224L		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	224					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCCGGATACAGAGTCTGGGCA	0.358		NaN											0	0	0	0.016522	0	22	395									
CELSR2	1952	broad.mit.edu	37	1	109793320	109793320	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:109793320G>C	uc001dxa.3	+	1	680	c.619G>C	c.(619-621)GAC>CAC	p.D207H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	207	Cadherin 1.|Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		GAGGGCCATCGACCCGGACGA	0.617		NaN											0	0	0	0.014758	0	5	59									
GPR89A	653519	broad.mit.edu	37	1	145771648	145771648	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:145771648C>T	uc001eot.2	-	11	1166	c.992G>A	c.(991-993)GGA>GAA	p.G331E	NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.G29E|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.G255E|GPR89A_uc010ozb.1_Missense_Mutation_p.G306E|GPR89A_uc001eos.2_Missense_Mutation_p.G211E|GPR89A_uc010ozc.1_Missense_Mutation_p.G306E|GPR89A_uc010ozd.1_Missense_Mutation_p.G278E|GPR89A_uc010oze.1_Missense_Mutation_p.G331E	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A isoform 1	331					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				0	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)			AAATTGGATTCCCAGATAATT	0.343		NaN											0	0	0	0.013537	0	9	105									
RFX5	5993	broad.mit.edu	37	1	151315450	151315450	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:151315450G>T	uc001exv.1	-	11	1277	c.1063C>A	c.(1063-1065)CTT>ATT	p.L355I	RFX5_uc001exw.1_Missense_Mutation_p.L355I|RFX5_uc009wmr.1_Missense_Mutation_p.L355I|RFX5_uc010pcx.1_Missense_Mutation_p.L315I	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	355						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)			CCTGAAGAAAGCCTGGGGGCC	0.587		NaN											1	0	3.03607e-14	0.013537	3.38016e-14	13	60									
FLG	2312	broad.mit.edu	37	1	152282251	152282251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:152282251G>C	uc001ezu.1	-	3	5147	c.5111C>G	c.(5110-5112)TCT>TGT	p.S1704C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1704	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGACTACAGATGAATCTTG	0.572		NaN							Ichthyosis				0	0	0	0.013114	0	30	349									
NTRK1	4914	broad.mit.edu	37	1	156845927	156845927	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:156845927C>T	uc001fqh.1	+	13	1613	c.1557C>T	c.(1555-1557)GGC>GGT	p.G519G	NTRK1_uc001fqf.1_Silent_p.G483G|NTRK1_uc009wsi.1_Silent_p.G218G|NTRK1_uc001fqi.1_Silent_p.G513G|NTRK1_uc009wsk.1_Silent_p.G516G	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	519	Cytoplasmic (Potential).|ATP (By similarity).|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			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGGGGAGGGCGCCTTTGGGA	0.632		NaN	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			0	0	0	0.014758	0	5	69									
FCRL5	83416	broad.mit.edu	37	1	157514227	157514227	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:157514227C>T	uc001fqu.2	-	5	827	c.669G>A	c.(667-669)CCG>CCA	p.P223P	FCRL5_uc009wsm.2_Silent_p.P223P|FCRL5_uc010phv.1_Silent_p.P223P|FCRL5_uc010phw.1_Silent_p.P138P|FCRL5_uc001fqv.1_Silent_p.P223P|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	223	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGAACCGGAGCGGGACATCTG	0.567		NaN											0	0	0	0.008871	0	19	114									
OR10R2	343406	broad.mit.edu	37	1	158449927	158449927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:158449927C>G	uc010pik.1	+	1	260	c.260C>G	c.(259-261)TCA>TGA	p.S87*	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	87	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GGCATTCTCTCAACATCTGAG	0.433		NaN											0	0	0	0.024334	0	27	172									
RCOR3	55758	broad.mit.edu	37	1	211433478	211433478	+	Nonsense_Mutation	SNP	C	C	A	rs145681038	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:211433478C>A	uc001hig.2	+	1	190	c.21C>A	c.(19-21)TAC>TAA	p.Y7*	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Nonsense_Mutation_p.Y65*|RCOR3_uc010psw.1_Nonsense_Mutation_p.Y65*|RCOR3_uc001hif.2_Nonsense_Mutation_p.Y65*	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	7	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GAGCCGAATACCAAGCTCGGA	0.353		NaN											1	0	9.39395e-14	0.00632	1.03893e-13	25	27									
OR2L3	391192	broad.mit.edu	37	1	248224518	248224518	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:248224518G>A	uc001idx.1	+	1	535	c.535G>A	c.(535-537)GAT>AAT	p.D179N	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			TTTCTTCTGTGATGTCCCAGC	0.478		NaN											0	0	0	0.008361	0	30	135									
OR2T10	127069	broad.mit.edu	37	1	248756267	248756267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:248756267G>A	uc010pzn.1	-	1	803	c.803C>T	c.(802-804)CCT>CTT	p.P268L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			ATCTTTCTCAGGAGTTTGGTA	0.438		NaN											0	0	0	0.008291	0	10	53									
ADARB2	105	broad.mit.edu	37	10	1405298	1405298	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:1405298G>A	uc009xhq.2	-	3	1376	c.1002C>T	c.(1000-1002)GCC>GCT	p.A334A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	334	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTGCAGTGCGGCCTGCGCGG	0.746		NaN											0	0	0	0.009096	0	3	9									
SVIL	6840	broad.mit.edu	37	10	29821479	29821479	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:29821479T>A	uc001iut.1	-	8	2570	c.1817A>T	c.(1816-1818)AAC>ATC	p.N606I	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.N606I	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	606					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CCTGCAGGCGTTGGCAGATGC	0.577		NaN											0	0	0	0.00308	0	8	27									
ATRNL1	26033	broad.mit.edu	37	10	117228809	117228809	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:117228809C>T	uc001lcg.2	+	24	4010	c.3624C>T	c.(3622-3624)GTC>GTT	p.V1208V	ATRNL1_uc010qsm.1_Silent_p.V337V|ATRNL1_uc010qsn.1_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1208	Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		ATGTGTACGTCAGCAACTTTT	0.294		NaN											0	0	0	0.004482	0	9	67									
LDHC	3948	broad.mit.edu	37	11	18460094	18460094	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:18460094G>C	uc001mon.3	+	6	724	c.612G>C	c.(610-612)GTG>GTC	p.V204V	LDHC_uc001mom.3_Silent_p.V204V|LDHC_uc009yhp.2_Silent_p.V204V|LDHC_uc001moo.3_Silent_p.V88V|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	204					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	GGAGTGGGGTGAATGTTGCTG	0.373		NaN											0	0	0	0.013537	0	12	74									
MUC15	143662	broad.mit.edu	37	11	26587103	26587103	+	Silent	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:26587103T>C	uc001mqx.2	-	2	569	c.303A>G	c.(301-303)AAA>AAG	p.K101K	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.K128K|MUC15_uc001mqy.2_Silent_p.K128K	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	101	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TAGATGTGGGTTTTAGACTGC	0.453		NaN											0	0	0	0.008871	0	20	89									
CKAP5	9793	broad.mit.edu	37	11	46786765	46786765	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:46786765C>T	uc001ndi.1	-	28	3563	c.3453G>A	c.(3451-3453)AAG>AAA	p.K1151K	CKAP5_uc009ylg.1_Silent_p.K1037K|CKAP5_uc001ndj.1_Silent_p.K1151K|CKAP5_uc001ndh.1_Silent_p.K80K|SNORD67_uc001ndk.2_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1151					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|protein binding			ovary(1)|skin(1)	2						CTTCATCCTCCTTTAAGCTGG	0.398		NaN											0	0	0	0.024334	0	27	81									
OMP	4975	broad.mit.edu	37	11	76814355	76814355	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:76814355C>T	uc010rsk.1	+	1	470	c.470C>T	c.(469-471)TCC>TTC	p.S157F	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	157					sensory perception of smell|synaptic transmission						0						CTCAAGGCCTCCGTGGTTTTT	0.602		NaN											0	0	0	0.013537	0	11	76									
NOX4	50507	broad.mit.edu	37	11	89133385	89133385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:89133385G>A	uc001pct.2	-	10	1248	c.1009C>T	c.(1009-1011)CAG>TAG	p.Q337*	NOX4_uc009yvr.2_Nonsense_Mutation_p.Q312*|NOX4_uc001pcu.2_Nonsense_Mutation_p.Q263*|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Nonsense_Mutation_p.Q337*|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Nonsense_Mutation_p.Q171*|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Nonsense_Mutation_p.Q313*|NOX4_uc009yvq.2_Nonsense_Mutation_p.Q313*	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	337	FAD-binding FR-type.|Extracellular (Potential).|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			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGACTCACCTGACCAGGTCTT	0.373		NaN											0	0	0	0.006214	0	9	98									
DSCAML1	57453	broad.mit.edu	37	11	117303215	117303215	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:117303215C>T	uc001prh.1	-	30	5214	c.5212G>A	c.(5212-5214)GAC>AAC	p.D1738N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1678	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GTGGCCTTGTCATCTCCTGGG	0.463		NaN											0	0	0	0.001984	0	7	72									
MFRP	83552	broad.mit.edu	37	11	119216184	119216184	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216184G>T	uc001pwj.2	-	5	747	c.587C>A	c.(586-588)TCT>TAT	p.S196Y	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S196Y	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AAAAAGGCAAGAGGCCACACT	0.582		NaN											1	0	3.59834e-05	0.021553	3.66416e-05	4	45									
MFRP	83552	broad.mit.edu	37	11	119216325	119216325	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216325G>C	uc001pwj.2	-	5	606	c.446C>G	c.(445-447)TCT>TGT	p.S149C	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S149C	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCTTGGGCCAGAGAGGAGGCC	0.567		NaN											0	0	0	0.001984	0	7	29									
MFRP	83552	broad.mit.edu	37	11	119216543	119216543	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216543G>C	uc001pwj.2	-	4	527	c.367C>G	c.(367-369)CAG>GAG	p.Q123E	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.Q123E	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	44	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCAGCTGCCTGAGAggtggtg	0.552		NaN											0	0	0	0.008291	0	10	60									
VWF	7450	broad.mit.edu	37	12	6078422	6078422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:6078422G>A	uc001qnn.1	-	45	7934	c.7684C>T	c.(7684-7686)CAG>TAG	p.Q2562*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2562					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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CAGCTCAGCTGAAAGCCCGAG	0.592		NaN											0	0	0	0.001984	0	7	23									
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:6078430G>A	uc001qnn.1	-	45	7926	c.7676C>T	c.(7675-7677)TCG>TTG	p.S2559L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2559					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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592		NaN											0	0	0	0.006214	0	9	25									
STRAP	11171	broad.mit.edu	37	12	16052918	16052918	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:16052918G>A	uc001rdc.3	+	8	1210	c.856G>A	c.(856-858)GAT>AAT	p.D286N	STRAP_uc010shw.1_Missense_Mutation_p.D299N|STRAP_uc001rdd.3_Missense_Mutation_p.D192N	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	286	WD 7.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				TGGTTCAGAAGATGGAACATT	0.388		NaN											0	0	0	0.008871	0	18	82									
PRICKLE1	144165	broad.mit.edu	37	12	42853914	42853914	+	Nonsense_Mutation	SNP	G	G	T	rs137985321	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:42853914G>T	uc010skv.1	-	8	2480	c.2193C>A	c.(2191-2193)TAC>TAA	p.Y731*	PRICKLE1_uc001rnl.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc010skw.1_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnm.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	731					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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CGTACTGTCCGTAGAGATCAG	0.493		NaN											1	0	1.5739e-10	0.028581	1.70676e-10	17	83									
MLL2	8085	broad.mit.edu	37	12	49444391	49444391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:49444391C>A	uc001rta.3	-	11	2980	c.2980G>T	c.(2980-2982)GAG>TAG	p.E994*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	994	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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGACAGGCTCAGGGTCAGTG	0.622		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	5.9392e-07	0.021553	6.19904e-07	6	35									
MLL2	8085	broad.mit.edu	37	12	49445170	49445170	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:49445170C>T	uc001rta.3	-	10	2296	c.2296G>A	c.(2296-2298)GAG>AAG	p.E766K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	766	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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTGGCTCCTCAGCCTGCGGA	0.697		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.014758	0	5	39									
ITGA7	3679	broad.mit.edu	37	12	56086673	56086673	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:56086673G>A	uc001shh.2	-	21	3031	c.2811C>T	c.(2809-2811)TCC>TCT	p.S937S	ITGA7_uc001shg.2_Silent_p.S933S|ITGA7_uc010sps.1_Silent_p.S840S|ITGA7_uc009znw.2_Silent_p.S180S|ITGA7_uc009znx.2_Silent_p.S814S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	977	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CTGGCCACCAGGACATGCTGG	0.642		NaN											0	0	0	0.009096	0	4	24									
TRHDE	29953	broad.mit.edu	37	12	73046848	73046848	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:73046848G>A	uc001sxa.2	+	17	2791	c.2761G>A	c.(2761-2763)GAT>AAT	p.D921N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	921	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						AGATGCAATTGATGTCATAAT	0.353		NaN											0	0	0	0.021553	0	6	59									
C12orf74	338809	broad.mit.edu	37	12	93100779	93100779	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:93100779C>T	uc001tch.1	+	2	602	c.372C>T	c.(370-372)CCC>CCT	p.P124P	C12orf74_uc001tci.2_Silent_p.P124P	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	124											0						CACTGGAGCCCCAAACCCGGC	0.557		NaN											0	0	0	0.001984	0	6	79									
EEA1	8411	broad.mit.edu	37	12	93244925	93244925	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:93244925C>T	uc001tck.2	-	9	1025	c.760G>A	c.(760-762)GAA>AAA	p.E254K		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	254	Potential.				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			ovary(2)|skin(1)	3						TTTTTGCATTCATCTTTGAGT	0.363		NaN											0	0	0	0.004482	0	8	48									
PAN3	255967	broad.mit.edu	37	13	28794473	28794473	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:28794473C>T	uc001urz.2	+	5	528	c.520C>T	c.(520-522)CAC>TAC	p.H174Y	PAN3_uc010tdo.1_Missense_Mutation_p.H320Y|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.H120Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	320	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			ovary(1)	1	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)		AGTTTTCTCTCACCCATCCAT	0.458		NaN											0	0	0	0.017118	0	33	147									
TRPC4	7223	broad.mit.edu	37	13	38213252	38213252	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:38213252G>T	uc001uws.2	-	10	2371	c.2136C>A	c.(2134-2136)AAC>AAA	p.N712K	TRPC4_uc010abv.2_Missense_Mutation_p.N292K|TRPC4_uc001uwt.2_Missense_Mutation_p.N712K|TRPC4_uc010tey.1_Missense_Mutation_p.N712K|TRPC4_uc010abw.2_Missense_Mutation_p.N539K|TRPC4_uc010abx.2_Missense_Mutation_p.N717K|TRPC4_uc010aby.2_Missense_Mutation_p.N647K	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	712	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|breast(1)	6				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)		GCTTCACCAGGTTCCTCATAA	0.398		NaN											1	0	2.94398e-08	0.007413	3.1315e-08	18	174									
SLITRK6	84189	broad.mit.edu	37	13	86368575	86368575	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:86368575T>C	uc001vll.1	-	2	2528	c.2069A>G	c.(2068-2070)TAT>TGT	p.Y690C	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	690	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGACTTCTATAGACATGAAC	0.443		NaN											0	0	0	0.01441	0	50	255									
TPP2	7174	broad.mit.edu	37	13	103326727	103326727	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:103326727G>A	uc001vpi.3	+	27	3530	c.3427G>A	c.(3427-3429)GGA>AGA	p.G1143R		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1143					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCTCAAGACGGAGCCATTTC	0.473		NaN											0	0	0	0.028581	0	17	62									
LIG4	3981	broad.mit.edu	37	13	108860901	108860901	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:108860901C>T	uc001vqn.2	-	2	2989	c.2716G>A	c.(2716-2718)GAA>AAA	p.E906K	LIG4_uc001vqo.2_Missense_Mutation_p.E906K|LIG4_uc010agg.1_Missense_Mutation_p.E839K|LIG4_uc010agf.2_Missense_Mutation_p.E906K|LIG4_uc001vqp.2_Missense_Mutation_p.E906K	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	906	BRCT 2.				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				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TACTGGTTTTCTTCTTGTAAT	0.333		NaN						NHEJ					0	0	0	0.010729	0	11	25									
CPNE6	9362	broad.mit.edu	37	14	24546221	24546221	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr14:24546221G>A	uc001wll.2	+	14	1398	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	CPNE6_uc010tnv.1_Silent_p.T488T|CPNE6_uc001wlm.2_Silent_p.T258T|CPNE6_uc001wln.2_Silent_p.T101T	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	433	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		GCCAAGCCACGGTAGGAAGAC	0.637		NaN											0	0	0	0.014758	0	5	12									
BMP4	652	broad.mit.edu	37	14	54417548	54417548	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr14:54417548G>A	uc001xal.3	-	3	616	c.429C>T	c.(427-429)AAC>AAT	p.N143N	BMP4_uc010aoh.2_Silent_p.N143N|BMP4_uc001xao.3_Silent_p.N143N|BMP4_uc001xan.3_Silent_p.N143N	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	143					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				0						TGCTGCTGAGGTTAAAGAGGA	0.527		NaN											0	0	0	0.00499	0	16	43									
CYFIP1	23191	broad.mit.edu	37	15	22929892	22929892	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:22929892A>G	uc001yus.2	+	6	670	c.566A>G	c.(565-567)AAG>AGG	p.K189R	CYFIP1_uc001yut.2_Missense_Mutation_p.K189R|CYFIP1_uc010aya.1_Missense_Mutation_p.K217R	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	189					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			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		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)		TCAGCGTACAAGAGGTGAGCA	0.567		NaN											0	0	0	0.006122	0	8	26									
MAP1A	4130	broad.mit.edu	37	15	43817292	43817292	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:43817292G>C	uc001zrt.2	+	4	4088	c.3621G>C	c.(3619-3621)GAG>GAC	p.E1207D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1207						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	CCAGCAAGGAGACCTCCCTGG	0.522		NaN											0	0	0	0.016723	0	13	84									
SECISBP2L	9728	broad.mit.edu	37	15	49329879	49329879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:49329879C>T	uc001zxe.1	-	2	246	c.112G>A	c.(112-114)GAT>AAT	p.D38N	SECISBP2L_uc001zxd.1_Missense_Mutation_p.D38N|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.D38N	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	38										breast(1)|skin(1)	2						CTTCCATTATCATTTGGGAGA	0.423		NaN											0	0	0	0.014758	0	5	32									
TRPM7	54822	broad.mit.edu	37	15	50866552	50866552	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:50866552T>A	uc001zyt.3	-	36	5491	c.5227A>T	c.(5227-5229)ACT>TCT	p.T1743S	TRPM7_uc001zyr.2_Missense_Mutation_p.T180S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1743	Cytoplasmic (Potential).|Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTTCCAGAGTATTAGTTGGA	0.358		NaN											0	0	0	0.001984	0	6	88									
LARP6	55323	broad.mit.edu	37	15	71125360	71125360	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:71125360C>G	uc002ass.2	-	3	578	c.507G>C	c.(505-507)AGG>AGC	p.R169S		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	169	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						CGGGGGTGGTCCTCCTCACCT	0.547		NaN											0	0	0	0.021553	0	6	42									
CRABP1	1381	broad.mit.edu	37	15	78640302	78640302	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:78640302A>G	uc002bdp.2	+	4	502	c.397A>G	c.(397-399)ATT>GTT	p.I133V		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	133	Retinoic acid binding (By similarity).				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	CTGCACCAGAATTTATGTCCG	0.493		NaN											0	0	0	0.010729	0	10	63									
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:3788618G>A	uc002cvv.2	-	26	4540	c.4336C>T	c.(4336-4338)CGC>TGC	p.R1446C	CREBBP_uc002cvw.2_Missense_Mutation_p.R1408C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1446	Cys/His-rich.				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.R1446H(3)|p.R1446L(2)|p.R1446C(2)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.021553	0	5	21									
ADCY9	115	broad.mit.edu	37	16	4016470	4016470	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:4016470G>A	uc002cvx.2	-	11	3907	c.3368C>T	c.(3367-3369)GCG>GTG	p.A1123V		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1123	Guanylate cyclase 2.|Cytoplasmic (Potential).				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			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CTGGGCCTGCGCGGTGTTCAG	0.602		NaN											0	0	0	0.004482	0	8	81									
EMP2	2013	broad.mit.edu	37	16	10631801	10631801	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:10631801G>A	uc002czx.2	-	4	494	c.300C>T	c.(298-300)ATC>ATT	p.I100I		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	100	Helical; (Potential).				cell proliferation	integral to membrane					0						TTAGCTGGATGATGGAGGTTA	0.542		NaN											0	0	0	0.012319	0	22	79									
ACSM5	54988	broad.mit.edu	37	16	20448621	20448621	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:20448621G>T	uc002dhe.2	+	12	1615	c.1468G>T	c.(1468-1470)GCC>TCC	p.A490S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	490					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						AGTGGAAAGTGCCCTGGCAGA	0.567		NaN											1	0	0.00829132	0.008291	0.00834127	10	63									
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:51174110G>C	uc010vgs.1	-	2	2054	c.2023C>G	c.(2023-2025)CCT>GCT	p.P675A	SALL1_uc010vgr.1_Missense_Mutation_p.P578A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	675					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCCAAAAGGAAACTTGGCC	0.582		NaN											0	0	0	0.010729	0	11	80									
CX3CL1	6376	broad.mit.edu	37	16	57416922	57416922	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:57416922C>T	uc002eli.2	+	3	1239	c.1172C>T	c.(1171-1173)TCA>TTA	p.S391L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	391	Cytoplasmic (Potential).				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				0						GGTAGTAATTCATATGTCCTG	0.577		NaN											0	0	0	0.013537	0	11	84									
RLTPR	146206	broad.mit.edu	37	16	67679643	67679643	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:67679643G>C	uc002etn.2	+	3	269	c.149G>C	c.(148-150)AGA>ACA	p.R50T	RLTPR_uc010cel.1_Missense_Mutation_p.R50T|RLTPR_uc010vjr.1_Missense_Mutation_p.R50T	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	50										breast(1)	1		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)		CTACGATGGAGAGCCTACCTG	0.667		NaN											0	0	0	0.006214	0	10	77									
COG4	25839	broad.mit.edu	37	16	70516007	70516007	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:70516007C>G	uc002ezc.2	-	16	2003	c.1992G>C	c.(1990-1992)ATG>ATC	p.M664I	COG4_uc002eza.2_Missense_Mutation_p.M1I|COG4_uc002ezb.2_Missense_Mutation_p.M120I|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.M643I|COG4_uc002eze.2_Missense_Mutation_p.M358I	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	660	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				0		Ovarian(137;0.0694)				TGAACTCTGCCATTTGCTGCT	0.532		NaN											0	0	0	0.008291	0	10	55									
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:71054178T>C	uc002ezr.2	-	22	3357	c.3229A>G	c.(3229-3231)ATA>GTA	p.I1077V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1077										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418		NaN											0	0	0	0.001984	0	7	49									
TP53	7157	broad.mit.edu	37	17	7576886	7576886	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7576886C>T	uc002gim.2	-	9	1154	c.960G>A	c.(958-960)AAG>AAA	p.K320K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.K320K|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Silent_p.K188K|TP53_uc010cng.1_Silent_p.K188K|TP53_uc002gii.1_Silent_p.K188K|TP53_uc010cnh.1_Silent_p.K320K|TP53_uc010cni.1_Silent_p.K320K|TP53_uc002gij.2_Silent_p.K320K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	320	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).	K->A: Loss of nuclear localization; when associated with A-319 and A-321.	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.K320N(3)|p.K320fs*26(2)|p.K320*(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320fs*18(1)|p.K320K(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCAGTGGTTTCTTCTTTGGCT	0.458		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.021523	0	26	41									
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7577099C>G	uc002gim.2	-	8	1033	c.839G>C	c.(838-840)AGA>ACA	p.R280T	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (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 -> I (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|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.013537	0	13	25									
KDM6B	23135	broad.mit.edu	37	17	7751845	7751845	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7751845C>G	uc002giw.1	+	11	2615	c.2239C>G	c.(2239-2241)CCT>GCT	p.P747A	KDM6B_uc002gix.2_Missense_Mutation_p.P49A	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	747	Pro-rich.|Thr-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)|pancreas(1)	2						CACTACTGCTCCTGCTGTCGC	0.408		NaN											0	0	0	0.021553	0	6	48									
CNTROB	116840	broad.mit.edu	37	17	7836462	7836462	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7836462C>T	uc002gjq.2	+	2	984	c.65C>T	c.(64-66)TCA>TTA	p.S22L	TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.S22L|CNTROB_uc002gjr.2_5'Flank	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	22					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				AGTGATTCATCAGAACCCCCT	0.602		NaN											0	0	0	0.024245	0	14	145									
NCOR1	9611	broad.mit.edu	37	17	16089958	16089958	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:16089958C>T	uc002gpo.2	-	3	392	c.152G>A	c.(151-153)AGT>AAT	p.S51N	NCOR1_uc002gpn.2_Missense_Mutation_p.S51N|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.S51N|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.S51N|NCOR1_uc010cpa.1_Missense_Mutation_p.S51N|NCOR1_uc002gpu.2_Missense_Mutation_p.S51N	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	51	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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGATGCCTGACTCACTTCAAG	0.413		NaN											0	0	0	0.004482	0	9	61									
ULK2	9706	broad.mit.edu	37	17	19685248	19685248	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:19685248C>G	uc002gwm.3	-	23	3102	c.2593G>C	c.(2593-2595)GAG>CAG	p.E865Q	ULK2_uc002gwn.2_Missense_Mutation_p.E865Q	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	865					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACCACACTCTCCTGGATCTGG	0.522		NaN											0	0	0	0.013537	0	13	102									
SEZ6	124925	broad.mit.edu	37	17	27308687	27308687	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:27308687C>T	uc002hdp.2	-	2	620	c.426G>A	c.(424-426)CCG>CCA	p.P142P	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Silent_p.P142P|SEZ6_uc002hdq.1_Silent_p.P17P|SEZ6_uc010crz.1_Silent_p.P142P	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	142	Pro-rich.|Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	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)			ACTCTGACTCCGGACTCCAGG	0.647		NaN											0	0	0	0.021553	0	5	36									
MYO1D	4642	broad.mit.edu	37	17	30986217	30986217	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:30986217C>T	uc002hho.1	-	17	2273	c.2261G>A	c.(2260-2262)CGA>CAA	p.R754Q	MYO1D_uc002hhp.1_Missense_Mutation_p.R754Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	754						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCCGTAGTCTCGCATGGTCTT	0.532		NaN									OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00632	0	29	94									
PPP1R1B	84152	broad.mit.edu	37	17	37790282	37790282	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:37790282G>C	uc002hrz.2	+	5	855	c.388G>C	c.(388-390)GAA>CAA	p.E130Q	PPP1R1B_uc002hsa.2_Missense_Mutation_p.E141Q|PPP1R1B_uc010cvx.2_Missense_Mutation_p.E97Q|PPP1R1B_uc002hsb.2_Missense_Mutation_p.E94Q|PPP1R1B_uc002hsc.2_Missense_Mutation_p.E94Q	NM_032192	NP_115568	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	130	Asp/Glu-rich (acidic).				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity				0	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)			ggatgatgaagaagaggaaga	0.423		NaN											0	0	0	0.020292	0	13	103									
KRT14	3861	broad.mit.edu	37	17	39740032	39740032	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:39740032C>T	uc002hxf.1	-	4	968	c.907G>A	c.(907-909)GAG>AAG	p.E303K	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.E303K	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	303	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				AACCATTCCTCGGCATCCTTG	0.542		NaN											0	0	0	0.024334	0	28	249									
CCR10	2826	broad.mit.edu	37	17	40831910	40831910	+	Silent	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:40831910C>A	uc002iax.3	-	2	754	c.750G>T	c.(748-750)GTG>GTT	p.V250V	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	250	Helical; Name=6; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCACCAGAGCCACCACGACGC	0.731		NaN											1	0	0.004672	0.004672	0.00472863	3	9									
PIP5K1C	23396	broad.mit.edu	37	19	3642935	3642935	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:3642935C>T	uc002lyj.1	-	14	1709	c.1652G>A	c.(1651-1653)CGG>CAG	p.R551Q	PIP5K1C_uc010xhq.1_Missense_Mutation_p.R551Q|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R551Q	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	551					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		CTGTGTGCGCCGCCTGCAGAG	0.468		NaN											0	0	0	0.010729	0	11	80									
ANGPTL4	51129	broad.mit.edu	37	19	8429403	8429403	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:8429403G>C	uc002mjq.1	+	1	393	c.198G>C	c.(196-198)CTG>CTC	p.L66L	ANGPTL4_uc002mjr.1_Silent_p.L66L|ANGPTL4_uc010xkc.1_5'UTR	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	66				LREHAERTRSQLSALER -> CANTGAHPQSAERAGA (in Ref. 5; AAD41088).	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			ovary(1)	1						GCAGTCAGCTGAGCGCGCTGG	0.716		NaN											0	0	0	0.004672	0	3	5									
MUC16	94025	broad.mit.edu	37	19	9087678	9087678	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:9087678C>T	uc002mkp.2	-	1	4341	c.4137G>A	c.(4135-4137)CCG>CCA	p.P1379P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1379	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTTTTGTGGCCGGACTGGTGA	0.458		NaN											0	0	0	0.021553	0	6	86									
USHBP1	83878	broad.mit.edu	37	19	17367354	17367354	+	Silent	SNP	G	G	A	rs141680124	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:17367354G>A	uc002nfs.1	-	9	1509	c.1396C>T	c.(1396-1398)CTG>TTG	p.L466L	USHBP1_uc002nfr.1_Silent_p.L92L|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.L402L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	466							PDZ domain binding			ovary(1)	1						TGGGTCCCCAGAATGGCCTGC	0.612		NaN											0	0	0	0.008871	0	21	85									
LRFN1	57622	broad.mit.edu	37	19	39805227	39805227	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:39805227G>A	uc002okw.2	-	1	750	c.750C>T	c.(748-750)GGC>GGT	p.G250G		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	250	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	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)			GGGGGTTGCCGCCGAAGCTGA	0.697		NaN											0	0	0	0.004672	0	3	10									
PRX	57716	broad.mit.edu	37	19	40902543	40902543	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:40902543C>T	uc002onr.2	-	7	1985	c.1716G>A	c.(1714-1716)GTG>GTA	p.V572V	PRX_uc002onq.2_Silent_p.V433V|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	572	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|22.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCAGCTGCACCTCTGGAA	0.552		NaN											0	0	0	0.016723	0	13	225									
AXL	558	broad.mit.edu	37	19	41745178	41745178	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:41745178G>C	uc010ehj.2	+	9	1434	c.1244G>C	c.(1243-1245)GGA>GCA	p.G415A	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.G415A|AXL_uc010ehk.2_Missense_Mutation_p.G415A	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	415	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GCTGGGGATGGACCCTGGAGC	0.617		NaN											0	0	0	0.008871	0	19	55									
PSG9	5678	broad.mit.edu	37	19	43763021	43763021	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:43763021G>A	uc002owd.3	-	4	1075	c.976C>T	c.(976-978)CTA>TTA	p.L326L	PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.L233L|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	326	Ig-like C2-type 2.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				AGGACATTTAGGATGACTGGG	0.507		NaN											0	0	0	0.008291	0	11	140									
STRN4	29888	broad.mit.edu	37	19	47236403	47236403	+	Silent	SNP	G	G	A	rs146403716		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:47236403G>A	uc002pfl.2	-	5	663	c.630C>T	c.(628-630)AAC>AAT	p.N210N	STRN4_uc002pfm.2_Silent_p.N210N|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	210						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		CCACTGCCCCGTTGAGCTCCA	0.662		NaN											0	0	0	0.001984	0	7	34									
DHDH	27294	broad.mit.edu	37	19	49442919	49442919	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:49442919C>G	uc002ple.1	+	4	620	c.580C>G	c.(580-582)CCA>GCA	p.P194A		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	194					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGGCAGAAGCCAGAGAAGAT	0.562		NaN											0	0	0	0.004482	0	7	102									
ZNF615	284370	broad.mit.edu	37	19	52497324	52497324	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:52497324C>T	uc002pye.1	-	6	1297	c.1005G>A	c.(1003-1005)CAG>CAA	p.Q335Q	ZNF615_uc002pyf.1_Silent_p.Q346Q|ZNF615_uc002pyg.1_Silent_p.Q227Q|ZNF615_uc002pyh.1_Silent_p.Q346Q|ZNF615_uc010epi.1_Silent_p.Q342Q|ZNF615_uc010ydg.1_Silent_p.Q340Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	335	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TATGAGTTTTCTGATGTGTAG	0.423		NaN											0	0	0	0.009535	0	33	101									
SAPS1	22870	broad.mit.edu	37	19	55758399	55758399	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:55758399G>A	uc002qjw.3	-	2	315	c.73C>T	c.(73-75)CCC>TCC	p.P25S	SAPS1_uc002qjv.2_Missense_Mutation_p.P87S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	25	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGCAGCTCGGGCAGGCTCAGG	0.612		NaN											0	0	0	0.001984	0	7	101									
DYNC2LI1	51626	broad.mit.edu	37	2	44023913	44023913	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:44023913T>G	uc002rtk.2	+	8	729	c.633T>G	c.(631-633)CAT>CAG	p.H211Q	DYNC2LI1_uc002rtj.2_Missense_Mutation_p.H211Q|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.H212Q|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.H85Q	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	211						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGTTGCACATTATTATGGAG	0.353		NaN											0	0	0	0.00499	0	15	59									
SMYD5	10322	broad.mit.edu	37	2	73446021	73446021	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:73446021G>A	uc002siw.2	+	2	158	c.129G>A	c.(127-129)CGG>CGA	p.R43R	SMYD5_uc010yre.1_5'UTR	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	43							metal ion binding				0						AGCTCATCCGGAAGGGGGAGA	0.542		NaN											0	0	0	0.008291	0	10	42									
ST6GAL2	84620	broad.mit.edu	37	2	107446656	107446656	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:107446656A>C	uc002tdq.2	-	5	1303	c.1184T>G	c.(1183-1185)ATT>AGT	p.I395S	ST6GAL2_uc002tdr.2_Missense_Mutation_p.I395S|ST6GAL2_uc002tds.3_Missense_Mutation_p.I395S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	395	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						ACGATGCTGAATATATGGAGT	0.368		NaN											0	0	0	0.008871	0	20	86									
RANBP2	5903	broad.mit.edu	37	2	109400167	109400167	+	Missense_Mutation	SNP	A	A	G	rs141352150		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:109400167A>G	uc002tem.3	+	29	9611	c.9485A>G	c.(9484-9486)AAT>AGT	p.N3162S		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3162	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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCCATGGCCAATCAAGGCCAG	0.368		NaN											0	0	0	0.010729	0	10	88									
PSD4	23550	broad.mit.edu	37	2	113940254	113940254	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:113940254A>G	uc002tjc.2	+	2	404	c.221A>G	c.(220-222)CAC>CGC	p.H74R	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.H73R|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	74					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GAGCTCACACACCTGGGGAGC	0.617		NaN											0	0	0	0.014758	0	5	41									
XIRP2	129446	broad.mit.edu	37	2	168101824	168101824	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:168101824G>A	uc002udx.2	+	8	3940	c.3922G>A	c.(3922-3924)GAT>AAT	p.D1308N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1133N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1086N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1133	Xin 22.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATACAGGGTGATGTAAAAAG	0.368		NaN											0	0	0	0.016723	0	14	73									
TTN	7273	broad.mit.edu	37	2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:179542881G>A	uc010zfg.1	-	142	30457	c.30233C>T	c.(30232-30234)CCG>CTG	p.P10078L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6739L|TTN_uc010fre.1_Missense_Mutation_p.P735L|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11005							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTTTTTCGGAACAGGTGT	0.358		NaN											0	0	0	0.004482	0	7	79									
CYP20A1	57404	broad.mit.edu	37	2	204144831	204144831	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:204144831C>A	uc002uzv.3	+	8	1467	c.845C>A	c.(844-846)GCA>GAA	p.A282E	CYP20A1_uc002uzx.3_Missense_Mutation_p.A180E|CYP20A1_uc010zif.1_Missense_Mutation_p.A290E|CYP20A1_uc002uzy.3_Missense_Mutation_p.A180E|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.A12E	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	282						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						ATAATAACTGCAAAATGTAAG	0.219		NaN											1	0	5.68852e-11	0.004482	6.24989e-11	8	20									
VIL1	7429	broad.mit.edu	37	2	219292748	219292748	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:219292748C>T	uc002via.2	+	5	473	c.408C>T	c.(406-408)GTC>GTT	p.V136V	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.V136V|VIL1_uc002vic.1_Silent_p.V136V	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	136	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			ovary(1)	1		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)		CCTATGACGTCCAGAGGCTGC	0.622		NaN											0	0	0	0.014323	0	19	146									
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:223096999G>A	uc010fwo.2	-	5	956	c.590C>T	c.(589-591)TCA>TTA	p.S197L	PAX3_uc002vmt.1_Missense_Mutation_p.S197L|PAX3_uc002vmy.1_Missense_Mutation_p.S196L|PAX3_uc002vmv.1_Missense_Mutation_p.S197L|PAX3_uc002vmw.1_Missense_Mutation_p.S197L|PAX3_uc002vmx.1_Missense_Mutation_p.S197L	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	197					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/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		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)		TTGGGGTGCTGAGGCTAAAAG	0.328		NaN	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						0	0	0	0.006214	0	10	92									
KIAA1486	57624	broad.mit.edu	37	2	226447640	226447640	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:226447640C>T	uc002voe.2	+	4	1682	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R273W	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	503										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GGGTGGCTCCCGGTCCCGGAC	0.687		NaN											0	0	0	0.001984	0	6	24									
COL6A3	1293	broad.mit.edu	37	2	238296565	238296565	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:238296565G>A	uc002vwl.2	-	4	1257	c.972C>T	c.(970-972)CTC>CTT	p.L324L	COL6A3_uc002vwo.2_Silent_p.L118L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.L118L|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.L324L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	324	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		AATCAAGGGCGAGGCCGATAT	0.617		NaN											0	0	0	0.001984	0	7	41									
ASXL1	171023	broad.mit.edu	37	20	31021672	31021672	+	Silent	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr20:31021672C>G	uc002wxs.2	+	11	2097	c.1671C>G	c.(1669-1671)ACC>ACG	p.T557T	ASXL1_uc010geb.2_Silent_p.T448T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	557					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GTGTTCACACCGAAAAGCCAC	0.537		NaN	F|N|Mis		MDS|CMML								0	0	0	0.01892	0	24	128									
ARFGEF2	10564	broad.mit.edu	37	20	47639592	47639592	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr20:47639592G>T	uc002xtx.3	+	35	4781	c.4629G>T	c.(4627-4629)CAG>CAT	p.Q1543H	ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q836H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1543					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATAGATCAGAAACTGTTTG	0.318		NaN											1	0	3.07112e-06	0.010729	3.1659e-06	9	120									
DGCR8	54487	broad.mit.edu	37	22	20073753	20073753	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:20073753G>A	uc002zri.2	+	2	617	c.267G>A	c.(265-267)CCG>CCA	p.P89P	DGCR8_uc010grz.2_Silent_p.P89P|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	89	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TCATAGACCCGAACTGTAGTG	0.567		NaN											0	0	0	0.008291	0	9	66									
THOC5	8563	broad.mit.edu	37	22	29917075	29917075	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:29917075G>C	uc003afr.2	-	14	1524	c.1189C>G	c.(1189-1191)CCT>GCT	p.P397A	THOC5_uc003afq.2_Missense_Mutation_p.P58A|THOC5_uc003afs.2_Missense_Mutation_p.P397A|THOC5_uc003aft.2_Missense_Mutation_p.P397A|THOC5_uc003afu.2_Missense_Mutation_p.P397A|THOC5_uc010gvo.2_Missense_Mutation_p.P141A	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	397					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			breast(3)	3						ACTGAGTCAGGAGACAGCAAG	0.453		NaN											0	0	0	0.016522	0	23	114									
DEPDC5	9681	broad.mit.edu	37	22	32242867	32242867	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:32242867G>A	uc003als.2	+	31	3184	c.3042G>A	c.(3040-3042)ACG>ACA	p.T1014T	DEPDC5_uc011als.1_Silent_p.T945T|DEPDC5_uc011alu.1_Silent_p.T1023T|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.T1014T|DEPDC5_uc003alu.2_Silent_p.T463T|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Silent_p.T344T|DEPDC5_uc003alw.2_Silent_p.T312T|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Silent_p.T18T	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1014					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCATTTCCACGCATTCTCTGG	0.552		NaN											0	0	0	0.028581	0	16	53									
WBP2NL	164684	broad.mit.edu	37	22	42415340	42415340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:42415340G>A	uc011ape.1	+	3	104	c.88G>A	c.(88-90)GAG>AAG	p.E30K	WBP2NL_uc003bbt.2_Missense_Mutation_p.E30K|WBP2NL_uc011apk.1_Intron|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_5'Flank	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	30					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2						TCCGAATGTGGAGCTCTCCTT	0.413		NaN											0	0	0	0.00308	0	6	75									
RARB	5915	broad.mit.edu	37	3	25542729	25542729	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25542729G>C	uc011awl.1	+	3	450	c.384G>C	c.(382-384)AAG>AAC	p.K128N	RARB_uc003cdi.1_Missense_Mutation_p.K9N|RARB_uc003cdh.2_Missense_Mutation_p.K121N	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	128	Nuclear receptor.|NR C4-type.				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			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCGAGATAAGAACTGTGTTA	0.393		NaN											0	0	0	0.006214	0	8	90									
OXSM	54995	broad.mit.edu	37	3	25835785	25835785	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25835785G>A	uc003cdn.2	+	3	1287	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K	OXSM_uc011awp.1_Missense_Mutation_p.E119K|OXSM_uc010hfh.2_Missense_Mutation_p.E311K	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	394					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						AGGGGCAGTCGAGGCAGCTTT	0.438		NaN											0	0	0	0.024245	0	16	88									
SLC6A20	54716	broad.mit.edu	37	3	45800507	45800507	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:45800507C>T	uc011bai.1	-	11	1866	c.1742G>A	c.(1741-1743)CGT>CAT	p.R581H	SLC6A20_uc003cow.2_Missense_Mutation_p.R231H|SLC6A20_uc011baj.1_Missense_Mutation_p.R544H	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	581	Cytoplasmic (Potential).				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTGAGGCGACGCTGAACAAA	0.602		NaN											0	0	0	0.013537	0	13	43									
MAP4	4134	broad.mit.edu	37	3	47908773	47908773	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:47908773G>A	uc003csb.2	-	15	3555	c.3029C>T	c.(3028-3030)TCC>TTC	p.S1010F	MAP4_uc003csc.3_Missense_Mutation_p.S1010F|MAP4_uc003crw.2_Missense_Mutation_p.S89F|MAP4_uc003crx.2_Intron|MAP4_uc011bbe.1_Missense_Mutation_p.S723F|MAP4_uc003cry.2_Missense_Mutation_p.S745F|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.S730F	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	1010	Tau/MAP 2.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ATTGTCCTTGGAACCACACTT	0.438		NaN											0	0	0	0.016723	0	13	92									
CELSR3	1951	broad.mit.edu	37	3	48694483	48694483	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:48694483G>A	uc003cul.2	-	2	4328	c.4047C>T	c.(4045-4047)TCC>TCT	p.S1349S	CELSR3_uc003cuf.1_Silent_p.S1419S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1349	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAGCTCCTCGGAGCTGAACC	0.682		NaN											0	0	0	0.014758	0	5	40									
QARS	5859	broad.mit.edu	37	3	49136834	49136834	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:49136834G>A	uc003cvx.2	-	17	1562	c.1557C>T	c.(1555-1557)CTC>CTT	p.L519L	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Silent_p.L374L|QARS_uc003cvy.2_Silent_p.L374L|QARS_uc011bce.1_Silent_p.L508L	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	519					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GCAGGGCCGTGAGTGTAAAGA	0.557		NaN											0	0	0	0.006214	0	10	70									
GPX1	2876	broad.mit.edu	37	3	49394857	49394857	+	Silent	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:49394857G>T	uc011bcl.1	-	3	656	c.576C>A	c.(574-576)ATC>ATA	p.I192I	GPX1_uc011bcm.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	glutathione peroxidase 1 isoform 1	192					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			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GCAGGGCTTCGATGTCAGGCT	0.617		NaN											1	0	2.7689e-08	0.001984	2.96414e-08	7	45									
FAM116A	201627	broad.mit.edu	37	3	57658153	57658153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:57658153G>A	uc003dja.2	-	2	321	c.250C>T	c.(250-252)CAG>TAG	p.Q84*		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	84										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TTGGAATGCTGAGGATAAATT	0.204		NaN											0	0	0	0.004482	0	7	57									
MRPL3	11222	broad.mit.edu	37	3	131190094	131190094	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:131190094T>C	uc003eoh.2	-	7	823	c.659A>G	c.(658-660)AAA>AGA	p.K220R	MRPL3_uc011blo.1_Missense_Mutation_p.K115R|MRPL3_uc011blp.1_Missense_Mutation_p.K247R	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	220					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						TCCCCATCTTTTCATGACACC	0.408		NaN											0	0	0	0.004482	0	9	83									
DGKG	1608	broad.mit.edu	37	3	186006620	186006620	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:186006620C>T	uc003fqa.2	-	6	960	c.423G>A	c.(421-423)GCG>GCA	p.A141A	DGKG_uc003fqb.2_Silent_p.A141A|DGKG_uc003fqc.2_Silent_p.A141A|DGKG_uc011brx.1_Silent_p.A141A	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	141					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(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	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)	CCAGGGGGGTCGCAGCCACTT	0.512		NaN											0	0	0	0.01441	0	47	180									
INPP4B	8821	broad.mit.edu	37	4	143044482	143044482	+	Silent	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr4:143044482C>A	uc003iix.3	-	21	2575	c.1980G>T	c.(1978-1980)GGG>GGT	p.G660G	INPP4B_uc003iiw.3_Silent_p.G660G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G475G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G531G	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	660					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GTACTATCAACCCCACTGTGT	0.363		NaN											1	0	3.09899e-07	0.004482	3.25491e-07	8	85									
DAB2	1601	broad.mit.edu	37	5	39377092	39377092	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:39377092A>G	uc003jlx.2	-	12	2328	c.1797T>C	c.(1795-1797)TTT>TTC	p.F599F	DAB2_uc003jlw.2_Silent_p.F578F	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	599					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			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CAGGAGCTGGAAAAATATTGC	0.572		NaN									OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	11	151									
SLC27A6	28965	broad.mit.edu	37	5	128368806	128368806	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:128368806T>A	uc003kuy.2	+	11	2087	c.1691T>A	c.(1690-1692)ATG>AAG	p.M564K	SLC27A6_uc003kuz.2_Missense_Mutation_p.M564K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	564					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				0		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)		CAGGAAAAAATGGAAGCAACA	0.289		NaN											0	0	0	0.021553	0	6	22									
PCDHA8	56140	broad.mit.edu	37	5	140222221	140222221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:140222221G>A	uc003lhs.2	+	1	1315	c.1315G>A	c.(1315-1317)GCC>ACC	p.A439T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A439T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	439	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCCACCGCCAGCTTGTC	0.667		NaN											0	0	0	0.028581	0	17	108									
PCDHA8	56140	broad.mit.edu	37	5	140222946	140222946	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:140222946G>A	uc003lhs.2	+	1	2040	c.2040G>A	c.(2038-2040)TCG>TCA	p.S680S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.S680S	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	680	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCGTCATCGAGGCAGTCGG	0.627		NaN											0	0	0	0.010729	0	12	99									
NSD1	64324	broad.mit.edu	37	5	176665484	176665484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:176665484G>C	uc003mfr.3	+	7	4306	c.4168G>C	c.(4168-4170)GAG>CAG	p.E1390Q	NSD1_uc003mft.3_Missense_Mutation_p.E1121Q|NSD1_uc003mfs.1_Missense_Mutation_p.E1287Q|NSD1_uc011dfx.1_Missense_Mutation_p.E1038Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1390					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			ovary(2)|kidney(1)	3	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)		CCTTGAGTCTGAGGAATTGCT	0.507		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.01892	0	23	71									
RNF182	221687	broad.mit.edu	37	6	13977507	13977507	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:13977507G>C	uc003nbe.2	+	3	575	c.157G>C	c.(157-159)GAC>CAC	p.D53H	RNF182_uc003nbf.2_Missense_Mutation_p.D53H|RNF182_uc003nbg.2_Missense_Mutation_p.D53H	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	53	RING-type.					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CAAGATCATAGACTTTGGGGA	0.463		NaN											0	0	0	0.008291	0	11	164									
ZNF311	282890	broad.mit.edu	37	6	28967310	28967310	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:28967310G>A	uc003nlu.2	-	5	777	c.264C>T	c.(262-264)CTC>CTT	p.L88L	ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CATCCTTATAGAGATGCCTTT	0.398		NaN											0	0	0	0.00308	0	7	88									
ELOVL5	60481	broad.mit.edu	37	6	53160459	53160459	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:53160459C>G	uc003pbq.1	-	2	487	c.39G>C	c.(37-39)AAG>AAC	p.K13N	ELOVL5_uc003pbr.1_Missense_Mutation_p.K13N|ELOVL5_uc011dwx.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbs.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbu.2_Missense_Mutation_p.K13N|ELOVL5_uc011dwy.1_RNA	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	13					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				0	Lung NSC(77;0.116)					CTAGCAATGCCTTGAAATAGG	0.363		NaN											0	0	0	0.004672	0	3	11									
UBE2J1	51465	broad.mit.edu	37	6	90053459	90053459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:90053459C>T	uc010kcb.2	-	3	221	c.48G>A	c.(46-48)ATG>ATA	p.M16I	UBE2J1_uc003pnc.2_Missense_Mutation_p.M16I	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	16	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		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)		CCGCTTCTTTCATTAAACGTT	0.299		NaN											0	0	0	0.009096	0	4	32									
AKD1	221264	broad.mit.edu	37	6	109867162	109867162	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:109867162C>G	uc003ptn.2	-	26	3210	c.3133G>C	c.(3133-3135)GAT>CAT	p.D1045H	AKD1_uc011eat.1_Missense_Mutation_p.D124H	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1045					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTCTCAGAATCTTCCTCAAAT	0.358		NaN											0	0	0	0.00308	0	8	88									
PTPRK	5796	broad.mit.edu	37	6	128302401	128302401	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:128302401C>T	uc003qbk.2	-	25	3935	c.3568G>A	c.(3568-3570)GAA>AAA	p.E1190K	PTPRK_uc003qbj.2_Missense_Mutation_p.E1191K|PTPRK_uc010kfc.2_Missense_Mutation_p.E1197K|PTPRK_uc011ebu.1_Missense_Mutation_p.E1213K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1190	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGCAGTCTTCAGCTTGTAGT	0.428		NaN											0	0	0	0.001984	0	5	25									
LAMA2	3908	broad.mit.edu	37	6	129475825	129475825	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:129475825A>G	uc003qbn.2	+	8	1308	c.1203A>G	c.(1201-1203)AAA>AAG	p.K401K	LAMA2_uc003qbo.2_Silent_p.K401K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	401	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGACCCAAAGGGGTAAAGT	0.333		NaN											0	0	0	0.014758	0	5	50									
HBS1L	10767	broad.mit.edu	37	6	135287557	135287557	+	Missense_Mutation	SNP	T	T	C	rs1139174		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:135287557T>C	uc003qez.2	-	17	2160	c.1953A>G	c.(1951-1953)ATA>ATG	p.I651M	HBS1L_uc003qey.2_Missense_Mutation_p.I487M|HBS1L_uc011ecy.1_Missense_Mutation_p.I375M|HBS1L_uc011ecz.1_Missense_Mutation_p.I487M|HBS1L_uc011eda.1_Missense_Mutation_p.I609M	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	651					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GCTCAAGAGCTATTGGTCTTT	0.368		NaN											0	0	0	0.007291	0	27	85									
TRIL	9865	broad.mit.edu	37	7	28996417	28996417	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:28996417C>T	uc003szt.2	-	3	1613	c.1246G>A	c.(1246-1248)GAT>AAT	p.D416N	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	416	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GGCGAGGGATCCGCGCAGGAT	0.662		NaN											0	0	0	0.024245	0	15	42									
MAGI2	9863	broad.mit.edu	37	7	79082591	79082591	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:79082591G>A	uc003ugx.2	-	1	300	c.46C>T	c.(46-48)CAT>TAT	p.H16Y	MAGI2_uc003ugy.2_Missense_Mutation_p.H16Y|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	16						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACACTCTCATGGACTTTGCTA	0.592		NaN											0	0	0	0.024334	0	24	124									
AKAP9	10142	broad.mit.edu	37	7	91625086	91625086	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:91625086T>C	uc003ulg.2	+	7	1127	c.902T>C	c.(901-903)TTG>TCG	p.L301S	AKAP9_uc003uld.3_Missense_Mutation_p.L301S|AKAP9_uc003ule.2_Missense_Mutation_p.L313S|AKAP9_uc003ulf.2_Missense_Mutation_p.L301S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	313	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			ATTAGTTTCTTGCAAGAGAAA	0.318		NaN	T	BRAF	papillary thyroid								0	0	0	0.00308	0	8	27									
ASB4	51666	broad.mit.edu	37	7	95125268	95125268	+	Missense_Mutation	SNP	G	G	A	rs141186023		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:95125268G>A	uc011kij.1	+	2	386	c.386G>A	c.(385-387)CGT>CAT	p.R129H	ASB4_uc003unx.2_Missense_Mutation_p.R129H	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	129	ANK 2.				intracellular signal transduction					central_nervous_system(1)	1	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)			CTCTGTGATCGTGGGGCAAAG	0.458		NaN											0	0	0	0.016723	0	14	64									
BCAP29	55973	broad.mit.edu	37	7	107253835	107253835	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:107253835G>A	uc003vej.2	+	7	987	c.648G>A	c.(646-648)TCG>TCA	p.S216S	BCAP29_uc011kly.1_Silent_p.S122S|BCAP29_uc011klz.1_Silent_p.S216S|BCAP29_uc011kma.1_Silent_p.S216S	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	216	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						AGAGACTTTCGAAAGAATATG	0.323		NaN											0	0	0	0.010729	0	10	38									
NCOA2	10499	broad.mit.edu	37	8	71126156	71126156	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr8:71126156G>A	uc003xyn.1	-	4	403	c.241C>T	c.(241-243)CGT>TGT	p.R81C		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	81	Basic motif.				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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGATCTGACGAATTTGCTTC	0.343		NaN	T	RUNXBP2	AML								0	0	0	0.006214	0	10	21									
RPS6	6194	broad.mit.edu	37	9	19376294	19376294	+	Silent	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:19376294T>C	uc003znv.1	-	6	789	c.747A>G	c.(745-747)AAA>AAG	p.K249K	RPS6_uc003znu.1_Silent_p.K218K	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	249					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AAAAATCTTATTTCTGACTGG	0.383		NaN											0	0	0	0.004482	0	8	76									
PGM5	5239	broad.mit.edu	37	9	71098912	71098912	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:71098912C>T	uc004agr.2	+	9	1656	c.1427C>T	c.(1426-1428)ACG>ATG	p.T476M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	476					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			ovary(1)|pancreas(1)	2						GTGGCGAAGACGGATAGTTTT	0.502		NaN											0	0	0	0.00499	0	17	68									
SUSD3	203328	broad.mit.edu	37	9	95841805	95841805	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:95841805G>A	uc004atb.2	+	4	514	c.478G>A	c.(478-480)GCC>ACC	p.A160T	SUSD3_uc004atc.2_Missense_Mutation_p.A147T	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	160	Cytoplasmic (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						GACGGTGCAGGCCGCATACCT	0.612		NaN											0	0	0	0.016723	0	13	32									
SMC2	10592	broad.mit.edu	37	9	106900437	106900437	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:106900437A>G	uc004bbv.2	+	24	3696	c.3408A>G	c.(3406-3408)ACA>ACG	p.T1136T	SMC2_uc004bbw.2_Silent_p.T1136T|SMC2_uc011lvl.1_Silent_p.T1136T|SMC2_uc004bbx.2_Silent_p.T1136T|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1136					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						CTCATTTCACACATTCTCAGG	0.343		NaN											0	0	0	0.016522	0	22	39									
SNAPC4	6621	broad.mit.edu	37	9	139273423	139273423	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139273423G>A	uc004chh.2	-	21	2865	c.2856C>T	c.(2854-2856)CTC>CTT	p.L952L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	952	Pro-rich.				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGCCCAGAGAGCGGTACAT	0.657		NaN											0	0	0	0.014758	0	5	6									
MAMDC4	158056	broad.mit.edu	37	9	139752992	139752992	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139752992G>A	uc004cjs.2	+	22	2865	c.2815G>A	c.(2815-2817)GAG>AAG	p.E939K	MAMDC4_uc011mej.1_Missense_Mutation_p.E276K	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1018	Extracellular (Potential).|MAM 6.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		CCTGGGCACAGAGGCAGGTAC	0.706		NaN											0	0	0	0.004672	0	3	12									
MAMDC4	158056	broad.mit.edu	37	9	139754441	139754441	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139754441G>C	uc004cjs.2	+	26	3347	c.3297G>C	c.(3295-3297)CAG>CAC	p.Q1099H	MAMDC4_uc011mej.1_Missense_Mutation_p.Q436H	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1178	Cytoplasmic (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		GCTGGCTGCAGAAGAAGGGGA	0.632		NaN											0	0	0	0.014758	0	5	14									
ATP7A	538	broad.mit.edu	37	X	77275742	77275742	+	Silent	SNP	G	G	C	rs150976855		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chrX:77275742G>C	uc004ecx.3	+	13	2788	c.2628G>C	c.(2626-2628)GGG>GGC	p.G876G		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	876	Cytoplasmic (Potential).		G -> R (in MNKD).|G -> E (in MNKD).		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|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				0						TCCATACAGGGGAGGCAATGC	0.393		NaN											0	0	0	0.013537	0	10	46									
DIAPH2	1730	broad.mit.edu	37	X	96213049	96213049	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chrX:96213049C>T	uc004efu.3	+	16	2233	c.1837C>T	c.(1837-1839)CCT>TCT	p.P613S	DIAPH2_uc004eft.3_Missense_Mutation_p.P613S	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	613	Poly-Pro.|FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGGAGGAGTTCCTCCTCCCCC	0.478		NaN											0	0	0	0.024245	0	16	25									
ARID1A	8289	broad.mit.edu	37	1	27101322	27101326	+	Frame_Shift_Del	DEL	CAGAT	CAGAT	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			CAGAT	-	CAGAT	CAGAT		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:27101322_27101326delCAGAT	uc001bmv.1	+	18	4977_4981	c.4604_4608delCAGAT	c.(4603-4608)ACAGATfs	p.T1535fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.T1534fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.T1152fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T381fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1535_1536					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		ATGCTGCACACAGATCAGAGGGCCA	0.605		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	13	76	---	---							
ZZZ3	26009	broad.mit.edu	37	1	78098224	78098224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:78098224delT	uc001dhq.2	-	5	1292	c.816delA	c.(814-816)CAAfs	p.Q272fs	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Frame_Shift_Del_p.Q272fs|ZZZ3_uc001dhp.2_Frame_Shift_Del_p.Q272fs	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TGACCTGCACTTGTGAATCTG	0.458		NaN											NaN	NaN	NaN	NaN	NaN	37	246	---	---							
TACC2	10579	broad.mit.edu	37	10	123844356	123844356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:123844356delC	uc001lfv.2	+	4	2701	c.2341delC	c.(2341-2343)CCCfs	p.P781fs	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Frame_Shift_Del_p.P781fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.P781fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	781						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGTGCCACATCCCCCCCAGGG	0.642		NaN											NaN	NaN	NaN	NaN	NaN	10	93	---	---							
DNAH3	55567	broad.mit.edu	37	16	20952843	20952844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:20952843_20952844insG	uc010vbe.1	-	59	11533_11534	c.11533_11534insC	c.(11533-11535)CAAfs	p.Q3845fs	DNAH3_uc010vbd.1_Frame_Shift_Ins_p.Q1280fs	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3845					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GAGAATGTCTTGTGCCAACTCC	0.475		NaN											NaN	NaN	NaN	NaN	NaN	36	124	---	---							
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:17898126delT	uc002rco.2	-	14	1524	c.1228delA	c.(1228-1230)ATAfs	p.I410fs	SMC6_uc010exo.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.I436fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.I436fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.I410fs	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	410	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343		NaN											NaN	NaN	NaN	NaN	NaN	7	116	---	---							
SDC1	6382	broad.mit.edu	37	2	20405159	20405160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:20405159_20405160insG	uc002rdo.1	-	2	391_392	c.92_93insC	c.(91-93)CCTfs	p.P31fs	SDC1_uc002rdp.1_Frame_Shift_Ins_p.P31fs|SDC1_uc010exv.2_Frame_Shift_Ins_p.P31fs|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	31	Extracellular (Potential).				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			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTGATCTTCAGGGGGCAAATT	0.55		NaN											NaN	NaN	NaN	NaN	NaN	7	106	---	---							
RARB	5915	broad.mit.edu	37	3	25216052	25216053	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25216052_25216053delCC	uc011awl.1	+	1	230_231	c.164_165delCC	c.(163-165)ACCfs	p.T55fs		NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	55	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			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGATGCAGCACCCCGTCGCCGG	0.559		NaN											NaN	NaN	NaN	NaN	NaN	13	42	---	---							
ALS2CL	259173	broad.mit.edu	37	3	46714826	46714827	+	Splice_Site	DEL	CA	CA	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:46714826_46714827delCA	uc003cqa.1	-	22	2662	c.2472_splice	c.e22+1	p.Q824_splice	ALS2CL_uc003cpx.1_Splice_Site_p.Q171_splice|ALS2CL_uc003cpy.1_Splice_Site|ALS2CL_uc003cpz.1_Splice_Site_p.Q339_splice|ALS2CL_uc003cqb.1_Splice_Site_p.Q824_splice|ALS2CL_uc003cqc.1_Splice_Site	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1						endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCTCCCTCTCACCTGATTGCT	0.609		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---	---							
