Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ACTR5	79913	broad.mit.edu	37	20	37383764	37383764	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:37383764G>A	ENST00000243903.4	+	4	977	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	314					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CCGGCGGCGGGAGGAGAAGCT	0.592000													18	28					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344803	50344803	+	Missense_Mutation	SNP	G	G	A	rs104894326		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:50344803G>A	ENST00000199280.3	+	1	275	c.190G>A	c.(190-192)Ggg>Agg	p.G64R		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	64			G -> R (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCACATAAGCGGGGCCCACAT	0.652000													37	43					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635189	42635189	+	Silent	SNP	C	C	A	rs113647385		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:42635189C>A	ENST00000358131.5	+	3	403	c.195C>A	c.(193-195)acC>acA	p.T65T	TOX2_ENST00000341197.4_Silent_p.T56T|TOX2_ENST00000372999.1_Silent_p.T14T|TOX2_ENST00000423191.2_Silent_p.T14T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGTTTTAGACCTACAACGGCC	0.517000													36	113					9.45814e-24	9.80459e-24	1	1	0
COX7A2L	9167	broad.mit.edu	37	2	42578468	42578468	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:42578468C>T	ENST00000378669.1	-	4	1065	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	COX7A2L_ENST00000234301.2_Missense_Mutation_p.R79Q|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	79					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						AGGCAGGCCTCGTTTCAGGTA	0.468000													27	44					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657769	52657769	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:52657769C>G	ENST00000334575.5	-	6	586	c.431G>C	c.(430-432)gGa>gCa	p.G144A	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	144	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GTAGTCTTGTCCATGGCTCTT	0.532000													6	191					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124405	142124405	+	RNA	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:142124405G>C	ENST00000390376.2	-	0	72																											TTTGGGGTCTGAGTGACACCA	0.532000													29	76					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239963	5239963	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:5239963C>T	ENST00000274181.7	+	16	2586	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCACTACTTTCGACTACAGAC	0.517000													11	221					0	0	1	0	0
SPEF1	25876	broad.mit.edu	37	20	3761899	3761899	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:3761899C>G	ENST00000379756.3	-	1	196	c.36G>C	c.(34-36)caG>caC	p.Q12H	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	12						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						ACAGGTACAGCTGGTGCAGCG	0.657000													35	80					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103920550	103920550	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:103920550G>C	ENST00000405356.1	+	10	1706	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	NOLC1_ENST00000603742.1_Missense_Mutation_p.E200Q|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.E481Q|NOLC1_ENST00000488254.2_Missense_Mutation_p.E482Q	NM_001284388.1	NP_001271317.1	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	481	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CAGTGAGGAGGAGGAAGAGAA	0.547000													27	74					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43485142	43485142	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:43485142G>A	ENST00000395891.2	+	11	2976	c.2371G>A	c.(2371-2373)Gtg>Atg	p.V791M	HECW1_ENST00000453890.1_Missense_Mutation_p.V791M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAATCCCCCGTGGCAGGTCC	0.587000													12	25					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1330814	1330814	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:1330814T>C	ENST00000400809.3	-	4	559	c.554A>G	c.(553-555)aAa>aGa	p.K185R	CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Missense_Mutation_p.K185R	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	185	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		ACCCAACTCTTTGAGAACTCG	0.537000													18	34					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57985144	57985144	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:57985144C>A	ENST00000354947.5	+	1	88	c.72C>A	c.(70-72)ttC>ttA	p.F24L	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.F24L|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.F24L|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.F24L			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	24						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTTTCGGCTTCGCCTCCAAGA	0.652000													83	129					1.55521e-42	1.63009e-42	1	1	0
ZNF506	440515	broad.mit.edu	37	19	19905663	19905663	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:19905663C>T	ENST00000443905.2	-	4	1180	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.E345K|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.E313K			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TTGCCACATTCGTCACATTTG	0.413000													10	84					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590189	125590189	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:125590189C>G	ENST00000504087.1	-	4	5280	c.4243G>C	c.(4243-4245)Gaa>Caa	p.E1415Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E1236Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1415										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAGAACCTTCAATCTGAAGC	0.388000													14	36					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166237135	166237135	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:166237135T>C	ENST00000357398.3	+	24	4632	c.4342T>C	c.(4342-4344)Tac>Cac	p.Y1448H	SCN2A_ENST00000375427.2_Missense_Mutation_p.Y1448H|SCN2A_ENST00000375437.2_Missense_Mutation_p.Y1448H|SCN2A_ENST00000283256.6_Missense_Mutation_p.Y1448H			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1448					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGACAACCTGTACATGTATCT	0.294000													17	33					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178481599	178481599	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:178481599C>G	ENST00000355689.5	-	1	2095	c.1831G>C	c.(1831-1833)Gaa>Caa	p.E611Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TGGACACATTCTTGAATAACA	0.393000													87	88					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887743	3887743	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:3887743C>G	ENST00000319331.3	+	2	2179	c.1418C>G	c.(1417-1419)tCa>tGa	p.S473*	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	473	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GAAACCCTTTCAGATAAATAC	0.438000													66	63					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	43					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94508323	94508323	+	Missense_Mutation	SNP	G	G	A	rs61750120		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:94508323G>A	ENST00000370225.3	-	22	3408	c.3322C>T	c.(3322-3324)Cgc>Tgc	p.R1108C		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1108	ABC transporter 1.		R -> C (in STGD1 and FFM; reduced ATP- binding capacity).|R -> H (in STGD1).|R -> L (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTACCTGAGCGATACTTCAGG	0.567000													47	22					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21877606	21877606	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrY:21877606C>T	ENST00000541639.1	-	18	2613	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	KDM5D_ENST00000382806.2_Missense_Mutation_p.E688K|KDM5D_ENST00000317961.4_Missense_Mutation_p.E745K	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	745					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GTGGGGAGCTCATCCAAGGTG	0.547000													49	8					0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50089051	50089051	+	Silent	SNP	A	A	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:50089051A>T	ENST00000305386.2	+	1	1563	c.1065A>T	c.(1063-1065)gtA>gtT	p.V355V	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	355					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACTTGACTGTATCTTGTCTTC	0.428000													60	95					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045440	119045440	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:119045440C>T	ENST00000409109.1	+	6	1715	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	NLRX1_ENST00000525863.1_Silent_p.L376L|NLRX1_ENST00000409991.1_Silent_p.L376L|NLRX1_ENST00000409265.4_Silent_p.L376L|NLRX1_ENST00000292199.2_Silent_p.L376L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	376	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATTGCTGGCTCGTTTGTGCCA	0.612000													27	43					0	0	1	0	0
C2orf70	339778	broad.mit.edu	37	2	26800452	26800452	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:26800452G>A	ENST00000409392.1	+	4	481	c.379G>A	c.(379-381)Gat>Aat	p.D127N	C2orf70_ENST00000329615.3_Silent_p.A139A			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	0										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CCTACTTTGCGATGCCCGTGA	0.577000											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	60					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180006192	180006192	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:180006192C>G	ENST00000367607.3	+	17	4496	c.4078C>G	c.(4078-4080)Cag>Gag	p.Q1360E		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1360						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTTGCTCAGCAGGAGAGTGT	0.403000													10	3					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151226792	151226792	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:151226792G>A	ENST00000367321.3	+	8	1061	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	263	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TTAGCTTCACGAGGCTGACAT	0.438000													29	46					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131772474	131772474	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:131772474G>A	ENST00000372564.3	-	8	808	c.663C>T	c.(661-663)ctC>ctT	p.L221L	SH3GLB2_ENST00000372554.4_Silent_p.L225L|SH3GLB2_ENST00000416629.1_Silent_p.L200L|SH3GLB2_ENST00000417224.1_Silent_p.L221L|SH3GLB2_ENST00000372559.1_Silent_p.L221L	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	221	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GGGCCACGCGGAGCTCCTGCT	0.647000													36	5					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325375	9325375	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:9325375G>T	ENST00000308682.2	-	1	167	c.139C>A	c.(139-141)Ctg>Atg	p.L47M		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CTGACGGCCAGAATGATGAGC	0.557000													72	57					5.98616e-33	6.22825e-33	1	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124391	142124391	+	RNA	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:142124391G>C	ENST00000390376.2	-	0	86																											TCAGGATGTGGAATTTTGGGG	0.522000													41	85					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8272818	8272818	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:8272818C>T	ENST00000396267.1	-	2	1698	c.867G>A	c.(865-867)atG>atA	p.M289I	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.M371I|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	371	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AGGTACTTATCATGTTCTTTA	0.507000													58	8					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33463366	33463366	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:33463366C>T	ENST00000455041.2	-	23	2971	c.2912G>A	c.(2911-2913)cGc>cAc	p.R971H	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1023					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACAGCCTGGCGGTGCCGCGG	0.652000													6	29					0	0	1	0	0
AIMP1	9255	broad.mit.edu	37	4	107252969	107252969	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:107252969G>C	ENST00000394701.4	+	5	645	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	AIMP1_ENST00000442366.1_Missense_Mutation_p.E178Q|AIMP1_ENST00000358008.3_Missense_Mutation_p.E178Q	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	178	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GTATGTGGAAGAAGTAGATGT	0.438000													104	94					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62029927	62029927	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:62029927G>C	ENST00000280772.2	-	5	666	c.475C>G	c.(475-477)Ctt>Gtt	p.L159V	ANK3_ENST00000373827.2_Missense_Mutation_p.L153V|ANK3_ENST00000503366.1_Missense_Mutation_p.L142V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTCAAGAAGAAACTTGACA	0.413000													26	55					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437761	201437761	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:201437761C>T	ENST00000367311.3	-	1	551	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PHLDA3_ENST00000367309.1_Missense_Mutation_p.E52K	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	52	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						AAGCTGAGCTCCTTGGGCCGG	0.692000													28	54					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77096782	77096782	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:77096782C>G	ENST00000358075.6	-	8	1044	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	288					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTAGCAGCTTCACATAAAAGC	0.373000													30	7					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156913743	156913743	+	Silent	SNP	G	G	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:156913743G>T	ENST00000368194.3	-	32	4258	c.3219C>A	c.(3217-3219)atC>atA	p.I1073I	ARHGEF11_ENST00000315174.8_Silent_p.I449I|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Silent_p.I1033I	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1033	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACAGAGCGGATGAGCACAG	0.607000													31	41					2.08457e-15	2.14521e-15	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61542751	61542751	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:61542751C>T	ENST00000266070.4	-	3	539	c.214G>A	c.(214-216)Gag>Aag	p.E72K	DIDO1_ENST00000266071.5_Missense_Mutation_p.E72K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E72K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E72K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E72K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E72K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E72K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E72K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E72K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	72					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCACGCGCTCAGTGCGCTTG	0.721000													26	27					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45389563	45389563	+	Silent	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:45389563C>G	ENST00000389039.6	-	29	4105	c.3720G>C	c.(3718-3720)ctG>ctC	p.L1240L	DUOX2_ENST00000603300.1_Silent_p.L1240L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1240	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCAGCTGGATCAGAGCATAGC	0.592000													50	57					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13164454	13164454	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:13164454G>A	ENST00000378748.3	+	9	1211	c.849G>A	c.(847-849)gaG>gaA	p.E283E	OPTN_ENST00000378752.3_Silent_p.E277E|OPTN_ENST00000263036.5_Silent_p.E283E|OPTN_ENST00000378764.2_Silent_p.E277E|OPTN_ENST00000378747.3_Silent_p.E283E|OPTN_ENST00000378757.2_Silent_p.E283E	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	283					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAGCACAGAGAAAGAGAATG	0.443000													37	30					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83357943	83357943	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:83357943C>T	ENST00000261722.3	-	3	438	c.231G>A	c.(229-231)gcG>gcA	p.A77A	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000542200.1_Silent_p.A77A|AP3B2_ENST00000535359.1_Silent_p.A77A|AP3B2_ENST00000561455.1_5'UTR|AP3B2_ENST00000535348.1_Silent_p.A77A	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	77					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTTCACCACCGCGGGAAACA	0.562000													23	25					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48174686	48174686	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:48174686G>A	ENST00000311303.3	-	4	914	c.569C>T	c.(568-570)aCg>aTg	p.T190M	ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M|ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	190	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGGATGGCCGTGCGGTAGTT	0.532000													85	66					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299121	125299121	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:125299121G>A	ENST00000538699.1	-	2	867	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263C	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGTACCTTGCGGTTGCTGGGG	0.637000													36	4					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71692317	71692317	+	Splice_Site	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:71692317G>A	ENST00000356340.3	+	29	2188	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	COL13A1_ENST00000398968.3_Splice_Site_p.G532E|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398971.3_Intron|COL13A1_ENST00000398973.3_Splice_Site_p.G551E|COL13A1_ENST00000398974.3_Splice_Site_p.G539E|COL13A1_ENST00000398972.3_Splice_Site_p.G551E|COL13A1_ENST00000354547.3_Splice_Site_p.G529E|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Splice_Site_p.G529E|COL13A1_ENST00000522165.1_Splice_Site_p.G532E|COL13A1_ENST00000398964.3_Splice_Site_p.G522E|COL13A1_ENST00000398966.3_Splice_Site_p.G529E|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398978.3_Splice_Site_p.G551E|COL13A1_ENST00000517713.1_Intron			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	551	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TGCCCACAGGGAGAGAAAGGA	0.532000													5	15					0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63594420	63594420	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:63594420G>A	ENST00000294244.4	+	6	1254	c.955G>A	c.(955-957)Ggg>Agg	p.G319R		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	319										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GGGGCTCCGCGGGACACTGGA	0.677000													8	18					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527176	6527176	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:6527176C>T	ENST00000263125.5	-	10	1055	c.956G>A	c.(955-957)gGt>gAt	p.G319D	PRKCQ_ENST00000397176.2_Missense_Mutation_p.G319D|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G194D	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	319					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCATGGGAGACCAATTTCAAC	0.498000													95	81					0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10280609	10280609	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:10280609C>T	ENST00000296658.3	-	6	1114	c.694G>A	c.(694-696)Gag>Aag	p.E232K	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	232						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTTCTGGCCTCGTCAATGTAG	0.423000													39	93					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256813	89256813	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:89256813C>T	ENST00000289746.2	+	8	1206	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687000													10	13					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547650	62547650	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:62547650C>T	ENST00000430451.2	+	4	1289	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_3'UTR	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	364	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGCCGCCAGCCAGAAGCTCA	0.537000													11	15					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621593	43621593	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:43621593C>G	ENST00000305641.5	-	1	1210	c.1095G>C	c.(1093-1095)ttG>ttC	p.L365F	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	365					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CGTCTGGGCTCAAGAAGACAG	0.552000													23	40					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227935705	227935705	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:227935705G>C	ENST00000366759.4	+	2	817	c.403G>C	c.(403-405)Gtc>Ctc	p.V135L	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.V135L	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	135						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCGAAATGTGGTCTTCAGCAT	0.577000													28	87					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95414874	95414874	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:95414874C>G	ENST00000287996.3	-	4	549	c.273G>C	c.(271-273)aaG>aaC	p.K91N		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	91					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CAGATTGTATCTTTAAACAAA	0.323000													56	8					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151396573	151396573	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:151396573C>T	ENST00000271715.2	-	9	1689	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000392723.1_Missense_Mutation_p.D406N|POGZ_ENST00000368863.2_Missense_Mutation_p.D364N|POGZ_ENST00000409503.1_Missense_Mutation_p.D450N|POGZ_ENST00000361398.3_Missense_Mutation_p.D406N|POGZ_ENST00000491586.1_Missense_Mutation_p.D406N|POGZ_ENST00000531094.1_Missense_Mutation_p.D397N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	459					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGACGGCATCGCCCACGTTC	0.507000													84	62					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174241	112174241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:112174241G>T	ENST00000457016.1	+	16	3330	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	APC_ENST00000508376.2_Nonsense_Mutation_p.E984*|APC_ENST00000257430.4_Nonsense_Mutation_p.E984*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	984	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E984*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCCTCGATTGAATCCTATTC	0.343000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			39	9					5.43694e-19	5.61552e-19	1	1	0
NPRL2	10641	broad.mit.edu	37	3	50388031	50388031	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:50388031G>C	ENST00000232501.3	-	1	491	c.53C>G	c.(52-54)aCg>aGg	p.T18R		NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	18	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GGGTCCCAGCGTGGGGTGGAA	0.637000													7	18					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142082	78142082	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:78142082C>T	ENST00000216489.3	-	5	672	c.657G>A	c.(655-657)ctG>ctA	p.L219L		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	219	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGTAGTAATTCAGGATCCCTG	0.512000													47	46					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27763055	27763055	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:27763055G>C	ENST00000261588.4	+	17	3381	c.3362G>C	c.(3361-3363)gGa>gCa	p.G1121A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1121										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAGCACTTTGGAGACACGATC	0.468000													43	36					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15747921	15747921	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:15747921G>C	ENST00000281171.4	+	26	3927	c.3597G>C	c.(3595-3597)aaG>aaC	p.K1199N	PTPRO_ENST00000544244.1_Missense_Mutation_p.K360N|PTPRO_ENST00000542557.1_Missense_Mutation_p.K360N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K388N|PTPRO_ENST00000445537.2_Missense_Mutation_p.K388N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K1171N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1199						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGATGAAGAAGAAGCAGCAGT	0.433000													23	14					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98600544	98600544	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:98600544C>T	ENST00000326840.6	-	2	635	c.273G>A	c.(271-273)caG>caA	p.Q91Q	DCBLD2_ENST00000469648.1_Intron|DCBLD2_ENST00000326857.9_Silent_p.Q91Q	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	91	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TGGGATAGGTCTGTGGGTAGT	0.403000													53	87					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47894425	47894425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:47894425C>A	ENST00000395734.3	-	18	3350	c.3265G>T	c.(3265-3267)Gag>Tag	p.E1089*	MAP4_ENST00000360240.6_3'UTR|MAP4_ENST00000264724.11_3'UTR|MAP4_ENST00000420772.2_Nonsense_Mutation_p.E782*|MAP4_ENST00000441748.2_Nonsense_Mutation_p.E203*|MAP4_ENST00000426837.2_3'UTR|MAP4_ENST00000383737.4_3'UTR	NM_001134364.1	NP_001127836.1	P27816	MAP4_HUMAN	microtubule-associated protein 4	1089					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CTGTAGGTCTCAATCTGCAGT	0.627000													12	23					6.40141e-05	6.44697e-05	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671171	151671171	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:151671171C>G	ENST00000402676.2	+	4	1885	c.1645C>G	c.(1645-1647)Cag>Gag	p.Q549E	AKAP12_ENST00000359755.5_Missense_Mutation_p.Q444E|AKAP12_ENST00000253332.1_Missense_Mutation_p.Q549E|AKAP12_ENST00000354675.6_Missense_Mutation_p.Q451E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	549	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGCACACTCAGGTTCCAGC	0.527000													35	33					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145749909	145749909	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:145749909G>A	ENST00000529415.2	-	3	471	c.354C>T	c.(352-354)ttC>ttT	p.F118F	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.F118F			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	118						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCAGGCCTACGAAGGCGCCGC	0.736000													32	20					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100346046	100346046	+	RNA	SNP	A	A	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:100346046A>T	ENST00000542585.1	+	0	1350				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGACATAAAAATGGACCCGTC	0.572000													19	30					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46747009	46747009	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:46747009G>C	ENST00000343304.6	-	5	1829	c.1544C>G	c.(1543-1545)tCa>tGa	p.S515*	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	515										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGCCTGGCCTGACAGGGCCCG	0.597000													19	63					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891551	2891551	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr18:2891551C>T	ENST00000254528.3	+	4	1585	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	476					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.R476W(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAAACCCTTCGGGGCGCCAT	0.463000													31	110					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161761287	161761287	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:161761287G>A	ENST00000367942.3	+	5	511	c.444G>A	c.(442-444)ctG>ctA	p.L148L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	148	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CGGAGCCACTGAAGGAAGATA	0.408000													19	54					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209843	30209843	+	RNA	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:30209843C>T	ENST00000518096.1	+	0	455																											GGCCACTACACAGAGGGCGCC	0.557000													88	45					0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64098993	64098993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:64098993C>T	ENST00000539294.1	+	4	737	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	142												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTGGATCTCAGGGACAATC	0.438000													15	57					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657334	42657334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:42657334G>A	ENST00000372572.1	-	11	1302	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.Q297*|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.Q331*|FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.Q331*|FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.Q331*	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	331					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGAGAGTGCTGATAGGTACAT	0.468000													68	54					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137176	40137176	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:40137176C>T	ENST00000278198.2	-	2	2630	c.667G>A	c.(667-669)Gag>Aag	p.E223K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E223K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E223K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E223K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	223					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGATCCAGCTCATCTAGTTTT	0.463000													42	44					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47045000	47045000	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:47045000C>T	ENST00000377604.3	+	20	3068	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W	RBM10_ENST00000345781.6_Missense_Mutation_p.R699W|RBM10_ENST00000329236.7_Missense_Mutation_p.R698W	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	776					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GGCGCTCATCCGGCACCAGCA	0.647000													6	0					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235835	33235835	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:33235835C>T	ENST00000401073.2	+	6	1125	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	KIAA1522_ENST00000373480.1_Missense_Mutation_p.S293L|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S304L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	293	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACCTACCTGTCGAAGTTGATT	0.667000													59	56					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807436	143807436	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:143807436C>T	ENST00000408979.2	+	1	830	c.761C>T	c.(760-762)gCc>gTc	p.A254V		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTTGGCATAGCCATGGTGGTT	0.522000													148	128					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847485	28847485	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:28847485G>A	ENST00000336783.4	+	22	3294	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	ATXN2L_ENST00000325215.6_Missense_Mutation_p.D1043N|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000570200.1_Missense_Mutation_p.D1043N|ATXN2L_ENST00000395547.2_Missense_Mutation_p.D1043N|ATXN2L_ENST00000564304.1_Missense_Mutation_p.D1049N|ATXN2L_ENST00000340394.8_Intron|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1043						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGAGGAGCCGATGACAGGAT	0.617000													67	58					0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49571809	49571809	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:49571809C>T	ENST00000371582.4	-	2	206	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	DPM1_ENST00000371583.5_Missense_Mutation_p.E59K|DPM1_ENST00000371588.5_Missense_Mutation_p.E59K|DPM1_ENST00000466152.1_5'UTR			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	59					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATTATAATTTCATAGTTGATT	0.289000													33	38					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842809	128842809	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:128842809C>T	ENST00000310343.9	-	21	3549	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E835K|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E835K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1184					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GACTGGTCTTCAGGGAAACTT	0.468000													55	39					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36715631	36715631	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr22:36715631G>A	ENST00000216181.5	-	10	1292	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	354	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTTCTTGAAGACGATGT	0.572000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				23	47					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223085954	223085954	+	Silent	SNP	T	T	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:223085954T>C	ENST00000350526.4	-	6	1081	c.945A>G	c.(943-945)acA>acG	p.T315T	PAX3_ENST00000336840.6_Silent_p.T315T|PAX3_ENST00000392070.2_Silent_p.T315T|PAX3_ENST00000409551.3_Silent_p.T314T|PAX3_ENST00000344493.4_Silent_p.T315T|PAX3_ENST00000392069.2_Silent_p.T315T|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	315			T -> K (in dbSNP:rs2234675).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGAATAGATGTGGGCTGGT	0.498000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						207	174					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8272755	8272755	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:8272755C>G	ENST00000396267.1	-	2	1761	c.930G>C	c.(928-930)caG>caC	p.Q310H	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.Q392H|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	392	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCCTCACCATCTGCATGAATC	0.473000													54	13					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14268693	14268693	+	Splice_Site	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:14268693C>T	ENST00000340736.6	-	14	2848		c.e14+1		CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Splice_Site	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCAGCTTACGATCTCACGG	0.617000													19	27					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3769561	3769561	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:3769561G>A	ENST00000330055.5	+	1	1437	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	410					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CATCTGCCGCGAGGCCTGCCA	0.592000													18	18					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816372	67816372	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:67816372G>C	ENST00000265686.3	+	14	1689	c.1581G>C	c.(1579-1581)ttG>ttC	p.L527F	TCIRG1_ENST00000532635.1_Missense_Mutation_p.L311F	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	527					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCAACCACTTGAGCTTCCTCA	0.617000													37	64					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591224	125591224	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:125591224C>T	ENST00000504087.1	-	4	4245	c.3208G>A	c.(3208-3210)Gat>Aat	p.D1070N	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D891N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1070										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGGTTTGGATCAGCACCATGC	0.418000													32	45					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214820020	214820020	+	Silent	SNP	A	A	G	rs142607504		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:214820020A>G	ENST00000366955.3	+	13	7275	c.7107A>G	c.(7105-7107)ctA>ctG	p.L2369L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2465	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGAGACCCTAAAAGCAAAAA	0.408000													21	48					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56347628	56347628	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:56347628C>T	ENST00000370754.5	-	89	21161	c.21162G>A	c.(21160-21162)ctG>ctA	p.L7054L	DST_ENST00000370769.4_Silent_p.L6876L|DST_ENST00000244364.6_Silent_p.L4462L|DST_ENST00000361203.3_Silent_p.L6765L|DST_ENST00000446842.2_Silent_p.L6550L|DST_ENST00000370788.2_Silent_p.L4679L|DST_ENST00000421834.2_Silent_p.L4788L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6874					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGCGCTTCAGGGCCTGCA	0.483000													22	42					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19449356	19449356	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:19449356C>T	ENST00000375267.2	-	66	9790	c.9787G>A	c.(9787-9789)Gcc>Acc	p.A3263T	UBR4_ENST00000375217.2_Missense_Mutation_p.A3256T|UBR4_ENST00000375226.2_Missense_Mutation_p.A3239T|UBR4_ENST00000375254.3_Missense_Mutation_p.A3263T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3263					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TATTGCAAGGCGGAGCCTGAG	0.567000													11	104					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824498	34824498	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:34824498G>A	ENST00000265109.3	+	15	2838	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K	RAI14_ENST00000428746.2_Missense_Mutation_p.E851K|RAI14_ENST00000503673.1_Missense_Mutation_p.E851K|RAI14_ENST00000506376.1_Missense_Mutation_p.E843K|RAI14_ENST00000397449.1_Missense_Mutation_p.E844K|RAI14_ENST00000512629.1_Missense_Mutation_p.E822K|RAI14_ENST00000515799.1_Missense_Mutation_p.E854K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	851						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGAAGTAAATGAACTTCTGCA	0.383000													49	110					0	0	1	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952399	95952399	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:95952399G>A	ENST00000342697.4	-	3	569	c.162C>T	c.(160-162)atC>atT	p.I54I	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.I54I|TP53INP1_ENST00000378776.4_Silent_p.I54I	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	54	Glu-rich.				apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					ACTCTTCACTGATGTCCTCCT	0.463000													48	39					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51011389	51011389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr22:51011389C>A	ENST00000360719.2	-	11	1404	c.1267G>T	c.(1267-1269)Gag>Tag	p.E423*	CPT1B_ENST00000395650.2_Nonsense_Mutation_p.E423*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.E423*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.E423*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.E389*|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.E220*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	423					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TAGGATTCCTCATCCAGGGCC	0.597000													96	96					2.68325e-40	2.80207e-40	1	1	0
DIRAS1	148252	broad.mit.edu	37	19	2717575	2717575	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:2717575G>C	ENST00000323469.4	-	2	413	c.230C>G	c.(229-231)tCc>tGc	p.S77C	DIRAS1_ENST00000585334.1_Missense_Mutation_p.S77C	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	77					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCCTTGGAGATGGACAG	0.622000													15	38					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54012300	54012300	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:54012300T>C	ENST00000338154.6	-	17	2582	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	PHF8_ENST00000322659.8_Intron|PHF8_ENST00000338946.6_Missense_Mutation_p.D592G|PHF8_ENST00000357988.5_Missense_Mutation_p.D729G	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	729					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTTGAGCAGATCAAGAATGCC	0.547000													58	6					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42360937	42360937	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:42360937C>T	ENST00000290472.3	-	20	2527	c.2433G>A	c.(2431-2433)gcG>gcA	p.A811A		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	811	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TTGGAGGCCTCGCCTCTAGAG	0.652000													7	8					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2238900	2238900	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:2238900C>G	ENST00000301364.5	-	3	1405	c.326G>C	c.(325-327)gGa>gCa	p.G109A	TSR1_ENST00000576112.2_Missense_Mutation_p.G109A	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)						ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GTGTACTGTTCCAGTGTCCCT	0.537000													49	10					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30132933	30132933	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:30132933G>C	ENST00000331968.5	-	4	897	c.668C>G	c.(667-669)tCt>tGt	p.S223C	PRKD1_ENST00000415220.2_Missense_Mutation_p.S223C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	223					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGCACTTGTAGAGAGTTCAGC	0.493000													100	95					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55034708	55034708	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:55034708C>G	ENST00000251091.5	+	1	379	c.74C>G	c.(73-75)gCg>gGg	p.A25G	SAMD4A_ENST00000392067.3_Missense_Mutation_p.A25G|SAMD4A_ENST00000554335.1_Missense_Mutation_p.A25G|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.A24G	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	25					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGACTGTTGCGCTGCTGTCG	0.667000													44	48					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48585361	48585361	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:48585361C>T	ENST00000262384.3	-	4	2289	c.2053G>A	c.(2053-2055)Gga>Aga	p.G685R		NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	685					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GATAATATTCCGAGCTCCTGG	0.413000													52	71					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334284	35334284	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:35334284G>A	ENST00000373347.1	-	9	2675	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R803W			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	803					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ACCTCTGCCCGCAGCATCTTG	0.642000													13	57					0	0	1	0	0
ZNF689	115509	broad.mit.edu	37	16	30616194	30616194	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:30616194G>A	ENST00000287461.3	-	3	1231	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TGCGCTGGCGGAAGCGGCGGT	0.677000													16	16					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349330	189349330	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:189349330C>T	ENST00000264731.3	+	1	115	c.26C>T	c.(25-27)gCc>gTc	p.A9V	TP63_ENST00000392460.3_Missense_Mutation_p.A9V|TP63_ENST00000418709.2_Missense_Mutation_p.A9V|TP63_ENST00000320472.5_Missense_Mutation_p.A9V|TP63_ENST00000382063.4_Missense_Mutation_p.A9V|TP63_ENST00000440651.2_Missense_Mutation_p.A9V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	9	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCACGGTGTGCCACCCTACAG	0.363000										HNSCC(45;0.13)			5	191					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140080711	140080711	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:140080711C>T	ENST00000323927.2	-	3	842	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CGCTCGTACTCGCCCCGGCAA	0.642000													23	5					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237549	9237549	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:9237549G>C	ENST00000305444.2	-	1	77	c.78C>G	c.(76-78)atC>atG	p.I26M		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCATGAAGAGGATGGGCTGCA	0.522000													40	52					0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75415234	75415234	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:75415234G>C	ENST00000555567.1	-	4	909	c.368C>G	c.(367-369)tCt>tGt	p.S123C	PGF_ENST00000238607.6_Missense_Mutation_p.S122C|PGF_ENST00000553716.1_Missense_Mutation_p.S123C|PGF_ENST00000405431.2_Missense_Mutation_p.S123C	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	123					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		AACGTGCTGAGAGAACGTCAG	0.607000													19	25					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913425	35913425	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:35913425G>A	ENST00000339208.6	-	14	2540	c.2400C>T	c.(2398-2400)ttC>ttT	p.F800F	SYNRG_ENST00000585472.1_Silent_p.F721F|SYNRG_ENST00000502449.2_Silent_p.F722F|SYNRG_ENST00000591288.1_Silent_p.F639F|SYNRG_ENST00000345615.4_Silent_p.F722F|SYNRG_ENST00000394378.2_Silent_p.F722F|SYNRG_ENST00000346661.4_Silent_p.F800F	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	800					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGTGTGTCTGAAAGCCACTG	0.463000													104	7					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591335	125591335	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:125591335C>G	ENST00000504087.1	-	4	4134	c.3097G>C	c.(3097-3099)Gag>Cag	p.E1033Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E854Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1033										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCACCATGCTCAATCAGAAGC	0.483000													23	36					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182497	100182497	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:100182497G>C	ENST00000554176.1	+	4	1075	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.E193Q|CYP46A1_ENST00000261835.3_Missense_Mutation_p.E290Q			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	290					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCAGGACGACGAGGGTCTGCT	0.522000													20	66					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80726366	80726366	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:80726366G>A	ENST00000355528.4	+	5	636	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.R169H	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	169					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GATTTTTCTCGCCTTGACGGG	0.473000													221	28					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52558023	52558023	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:52558023C>G	ENST00000321725.6	+	67	7608	c.7532C>G	c.(7531-7533)tCt>tGt	p.S2511C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2511					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTTGGCTTCTCTGCCTTCCAG	0.672000													28	42					0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130495542	130495542	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:130495542C>A	ENST00000373281.5	-	3	738	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L	TOR2A_ENST00000373284.5_Intron|TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	0					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GCGGAGGGCACTGGGAAAGCC	0.552000													81	9					6.15735e-50	6.4778e-50	1	1	0
TRIM2	23321	broad.mit.edu	37	4	154249781	154249781	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:154249781G>A	ENST00000338700.5	+	11	2187	c.2122G>A	c.(2122-2124)Gga>Aga	p.G708R	TRIM2_ENST00000437508.2_Missense_Mutation_p.G681R	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	681						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGATTCAAATGGAAACATCAT	0.408000													30	67					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105397280	105397280	+	Splice_Site	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:105397280G>A	ENST00000540372.1	+	7	1131		c.e7+1		PLD4_ENST00000392593.4_Splice_Site			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4						lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CTACTTCTCAGTAAGACGGGT	0.612000													47	59					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121366283	121366283	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:121366283C>T	ENST00000314583.3	-	4	262	c.171G>A	c.(169-171)ctG>ctA	p.L57L	HCLS1_ENST00000428394.2_Silent_p.L57L	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	57	Involved in HAX-1 binding.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTTTGTTCCTCAGCTGGTGGA	0.478000													35	77					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102766522	102766522	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:102766522G>T	ENST00000370220.1	+	4	4670	c.1607G>T	c.(1606-1608)gGa>gTa	p.G536V	LZTS2_ENST00000370223.3_Missense_Mutation_p.G536V			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	536	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGCGGCCGGACTCCGGGAG	0.677000													8	21					0.00307968	0.00307968	1	1	0
RELN	5649	broad.mit.edu	37	7	103338428	103338428	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:103338428A>G	ENST00000428762.1	-	10	1174	c.1015T>C	c.(1015-1017)Tat>Cat	p.Y339H	RELN_ENST00000424685.2_Missense_Mutation_p.Y339H|RELN_ENST00000343529.5_Missense_Mutation_p.Y339H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	339					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGGCTTCATACACTTCACCT	0.463000													118	107					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932874	153932874	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:153932874C>T	ENST00000368623.3	-	3	1434	c.675G>A	c.(673-675)ctG>ctA	p.L225L	SLC39A1_ENST00000537590.1_Silent_p.L123L|SLC39A1_ENST00000356205.4_Silent_p.L225L|SLC39A1_ENST00000368621.1_Silent_p.L225L|SLC39A1_ENST00000310483.6_Silent_p.L225L			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	225						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GCCGCAGGGACAGGCTGACAG	0.647000													44	27					0	0	1	0	0
IL17F	112744	broad.mit.edu	37	6	52101937	52101937	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:52101937G>A	ENST00000336123.4	-	3	391	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	95					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TACAACTTCCGAGGGGTACCG	0.557000													6	24					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19322743	19322743	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:19322743G>A	ENST00000328405.2	+	3	630	c.364G>A	c.(364-366)Gat>Aat	p.D122N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	122	PAC.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGAAAAAGGAGATGTAGTACT	0.348000													48	56					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175196	133175196	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:133175196C>G	ENST00000329321.3	+	1	1050	c.581C>G	c.(580-582)tCc>tGc	p.S194C		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	194						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCAACCGCTCCAGCACCCGC	0.637000													40	56					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21877819	21877819	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrY:21877819C>T	ENST00000541639.1	-	17	2483	c.2196G>A	c.(2194-2196)aaG>aaA	p.K732K	KDM5D_ENST00000382806.2_Silent_p.K644K|KDM5D_ENST00000317961.4_Silent_p.K701K	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	701					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AGCACGTGGTCTTGCACTTGA	0.557000													44	9					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134237736	134237736	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:134237736C>T	ENST00000250160.6	+	4	820	c.714C>T	c.(712-714)atC>atT	p.I238I	WISP1_ENST00000377863.2_Silent_p.I66I|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.I151I|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	238	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCACTCGGATCTCCAATGTTA	0.602000													52	105					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63877654	63877654	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:63877654G>C	ENST00000371108.4	+	9	1043	c.738G>C	c.(736-738)tgG>tgC	p.W246C	ALG6_ENST00000263440.4_Missense_Mutation_p.W248C	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	246					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCTCTGCTGGCTGCCATTCT	0.423000													80	77					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63533001	63533001	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:63533001C>T	ENST00000307078.5	-	7	2206	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	631				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGCTTGGGCTTGCTCTGCC	0.657000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				208	29					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94797470	94797470	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:94797470G>C	ENST00000453321.3	+	12	1210	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	TMEM67_ENST00000409623.3_Missense_Mutation_p.K303N	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	384					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CTATCTCTAAGATCTTAATTG	0.274000													24	243					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223010	25223010	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:25223010C>T	ENST00000444203.2	+	6	1557	c.518C>T	c.(517-519)cCa>cTa	p.P173L	SNRPN_ENST00000390687.4_Missense_Mutation_p.P169L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P169L|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400097.1_Missense_Mutation_p.P169L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P169L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P169L|SNRPN_ENST00000554227.2_Missense_Mutation_p.P173L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P169L			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	169					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACACAGTACCCACCAGGACGG	0.592000									Prader-Willi syndrome				11	15					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47894380	47894380	+	Missense_Mutation	SNP	C	C	T	rs149929003	by1000genomes	TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:47894380C>T	ENST00000395734.3	-	18	3395	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	MAP4_ENST00000360240.6_3'UTR|MAP4_ENST00000264724.11_3'UTR|MAP4_ENST00000420772.2_Missense_Mutation_p.D797N|MAP4_ENST00000441748.2_Missense_Mutation_p.D218N|MAP4_ENST00000426837.2_3'UTR|MAP4_ENST00000383737.4_3'UTR	NM_001134364.1	NP_001127836.1	P27816	MAP4_HUMAN	microtubule-associated protein 4	0					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCCCCGTGGTCGGTGCGGGCC	0.667000													6	10					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101597070	101597070	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:101597070T>A	ENST00000284395.5	+	29	4733	c.4333T>A	c.(4333-4335)Ttc>Atc	p.F1445I	LRRK1_ENST00000388948.3_Missense_Mutation_p.F1448I|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1448	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGTAGATATGTTCTCCTATGG	0.592000													4	107					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40529967	40529967	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:40529967G>C	ENST00000372797.3	+	5	924	c.363G>C	c.(361-363)aaG>aaC	p.K121N	CAP1_ENST00000340450.3_Missense_Mutation_p.K120N|CAP1_ENST00000372802.1_Missense_Mutation_p.K120N|CAP1_ENST00000372805.3_Missense_Mutation_p.K121N|CAP1_ENST00000372792.2_Missense_Mutation_p.K121N|CAP1_ENST00000372798.1_Missense_Mutation_p.K120N	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	121					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCGGGAGAAGAACCGAGGCA	0.483000													57	48					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31500615	31500615	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:31500615T>G	ENST00000417556.2	-	8	1484	c.854A>C	c.(853-855)aAg>aCg	p.K285T	DDX39B_ENST00000376177.2_Missense_Mutation_p.K270T|DDX39B_ENST00000458640.1_Missense_Mutation_p.K270T|DDX39B_ENST00000396172.1_Missense_Mutation_p.K270T|DDX39B_ENST00000415382.2_Missense_Mutation_p.K192T|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	270	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTCGTTGTCCTTCAGTTTCAC	0.537000													16	36					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6648201	6648201	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:6648201G>A	ENST00000299441.3	-	14	6480	c.6069C>T	c.(6067-6069)gcC>gcT	p.A2023A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2023	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAGAGCGGGCCACGCGGA	0.577000													19	25					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50718975	50718975	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:50718975G>A	ENST00000008391.3	+	7	1305	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	359	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GATCACCACTGGGATCCTCCA	0.348000													20	30					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811110	123811110	+	Missense_Mutation	SNP	C	C	T	rs141929562		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:123811110C>T	ENST00000307033.2	+	1	861	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGGCCTTTTCGGACATTCCC	0.512000													67	75					0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105478087	105478087	+	Silent	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:105478087G>C	ENST00000336219.3	-	2	335	c.180C>G	c.(178-180)gtC>gtG	p.V60V	CDCA4_ENST00000392590.3_Silent_p.V60V	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	60	SERTA.					nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGGCAATGAGGACTGAGCGGC	0.627000													43	29					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135202958	135202958	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:135202958G>C	ENST00000372169.2	-	10	4209	c.4027C>G	c.(4027-4029)Ctg>Gtg	p.L1343V	SETX_ENST00000224140.5_Missense_Mutation_p.L1343V|SETX_ENST00000393220.1_Missense_Mutation_p.L1343V			Q7Z333	SETX_HUMAN	senataxin	1343					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACTAGTCAGAAGTTTCTTA	0.358000													39	7					0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126710	32126710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:32126710G>A	ENST00000265070.6	-	4	820	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	GOLPH3_ENST00000512668.1_5'UTR	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	169					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTTCTTAACTGATAATGCAAT	0.328000													25	72					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823565	38823565	+	Silent	SNP	C	C	T	rs150693544		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr22:38823565C>T	ENST00000303592.3	-	2	831	c.573G>A	c.(571-573)gcG>gcA	p.A191A		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	191					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCGAAATGACCGCGTGGTGGC	0.637000													44	50					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508702	24508702	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:24508702G>A	ENST00000376454.3	+	2	248	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	KIAA1217_ENST00000376452.3_Missense_Mutation_p.R73Q|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R73Q|KIAA1217_ENST00000376462.1_5'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	73					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGGGGGCCCCGAAGTTCCAAG	0.517000													5	86					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412945	49412945	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:49412945G>C	ENST00000418115.1	-	2	462	c.78C>G	c.(76-78)agC>agG	p.S26R	RHOA_ENST00000422781.1_Missense_Mutation_p.S26R|RHOA_ENST00000454011.2_Missense_Mutation_p.S26R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	26					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACTGGTCCTTGCTGAAGACTA	0.458000													59	49					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153695	2153695	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:2153695G>A	ENST00000262304.4	-	23	8571	c.8363C>T	c.(8362-8364)tCg>tTg	p.S2788L	PKD1_ENST00000561991.1_Intron|PKD1_ENST00000423118.1_Missense_Mutation_p.S2788L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2788	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGCGGGTCCGAGCGCTTGCC	0.701000													17	44					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56488292	56488292	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:56488292C>T	ENST00000267101.3	+	15	2251	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L	ERBB3_ENST00000450146.2_5'UTR|ERBB3_ENST00000415288.2_Missense_Mutation_p.P545L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	604					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACAAGTACCCAGATGTTCAG	0.552000													5	102					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142030405	142030405	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:142030405C>T	ENST00000264951.4	-	42	5186	c.5069G>A	c.(5068-5070)aGa>aAa	p.R1690K	XRN1_ENST00000392981.2_Missense_Mutation_p.R1678K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1690					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTTGATTTTCTTCTTGAAGA	0.358000													65	94					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85657375	85657375	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:85657375G>A	ENST00000322366.6	-	42	7270	c.6863C>T	c.(6862-6864)tCa>tTa	p.S2288L	WDFY3_ENST00000295888.4_Missense_Mutation_p.S2288L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2288						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTCCTTCTTGATCCTGTTAA	0.388000													28	25					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102395690	102395690	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:102395690C>T	ENST00000260227.4	-	4	642	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	197					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATCCGTCCAGCGTTCATCCTC	0.478000													20	40					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6806658	6806658	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:6806658G>A	ENST00000534837.1	-	3	547	c.318C>T	c.(316-318)atC>atT	p.I106I	PIANP_ENST00000540656.1_Silent_p.I106I|PIANP_ENST00000320591.5_Silent_p.I106I	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		GACCCCACACGATAGCCCAGG	0.622000													12	28					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427711	27427711	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:27427711C>G	ENST00000263980.3	-	11	2668	c.2093G>C	c.(2092-2094)cGg>cCg	p.R698P	SLC9A1_ENST00000545949.1_Missense_Mutation_p.R359P	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	698					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GATGCGGGCCCGAGACATGGT	0.637000													25	19					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27614209	27614209	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:27614209C>T	ENST00000319394.3	+	6	871	c.336C>T	c.(334-336)gcC>gcT	p.A112A	WDTC1_ENST00000361771.3_Silent_p.A112A	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	112							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGGGGGCAGCCGACTCTAAGG	0.557000													7	21					0	0	1	0	0
GNG8	94235	broad.mit.edu	37	19	47137868	47137868	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:47137868G>A	ENST00000300873.4	-	1	74	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_033258.1	NP_150283.1	Q9UK08	GBG8_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	24					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		TCATGCGGTCGATGTTCACCT	0.637000													24	33					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547863	62547863	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:62547863C>T	ENST00000430451.2	+	4	1502	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	435	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTGTCCGCTTCCGCCTGTACG	0.567000													16	34					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171062	51171062	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:51171062G>A	ENST00000440970.1	-	3	4076	c.3645C>T	c.(3643-3645)acC>acT	p.T1215T	SALL1_ENST00000541611.1_Silent_p.T135T|SALL1_ENST00000251020.4_Silent_p.T1312T|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1312					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACGAAGCGGGTGAAGCGGA	0.567000													20	37					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													12	22					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197703553	197703553	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:197703553C>T	ENST00000330198.4	+	5	538	c.516C>T	c.(514-516)tgC>tgT	p.C172C	LMLN_ENST00000420910.2_Silent_p.C172C|LMLN_ENST00000332636.5_Silent_p.C120C|LMLN_ENST00000482695.1_Silent_p.C120C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	172					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		ACACAAAGTGCGGCCCCGTTA	0.488000													4	180					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21877845	21877845	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrY:21877845C>T	ENST00000541639.1	-	17	2457	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	KDM5D_ENST00000382806.2_Missense_Mutation_p.D636N|KDM5D_ENST00000317961.4_Missense_Mutation_p.D693N	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	693					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGGCGTTCATCATCTGGGAGC	0.547000													36	7					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10028321	10028321	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:10028321C>T	ENST00000245046.2	-	1	483	c.25G>A	c.(25-27)Gac>Aac	p.D9N	EMC3_ENST00000429759.1_Missense_Mutation_p.D9N	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		ATGTTGGAGTCGAGCAACAGT	0.552000													34	71					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061375	38061375	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:38061375G>A	ENST00000250448.2	-	2	675	c.614C>T	c.(613-615)cCc>cTc	p.P205L	FOXA1_ENST00000540786.1_Missense_Mutation_p.P172L|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	205					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGGTAATAGGGGAAGAGGTC	0.597000													58	67					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155237084	155237084	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:155237084C>T	ENST00000357232.4	-	15	3710	c.3711G>A	c.(3709-3711)ctG>ctA	p.L1237L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGAACAGTCAGAATATGCT	0.378000													10	14					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27056181	27056181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:27056181C>T	ENST00000324856.7	+	2	1548	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q10*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q393*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	393					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q393*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGAGACCTCAGCCATATGG	0.527000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								44	85					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43531696	43531696	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:43531696G>C	ENST00000395891.2	+	18	3862	c.3257G>C	c.(3256-3258)aGa>aCa	p.R1086T	HECW1_ENST00000453890.1_Missense_Mutation_p.R1052T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCTAGAAACAGAGGAGCCTCT	0.398000													12	84					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216258099	216258099	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:216258099T>C	ENST00000366943.2	-	25	5494	c.5108A>G	c.(5107-5109)tAt>tGt	p.Y1703C	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.Y1703C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1703	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAGCTGTTATACACGTTGAT	0.423000										HNSCC(13;0.011)			22	64					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15266882	15266882	+	Silent	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:15266882G>C	ENST00000546332.1	-	7	1227	c.744C>G	c.(742-744)ctC>ctG	p.L248L	ASB9_ENST00000380485.3_Silent_p.L248L|ASB9_ENST00000380483.3_Silent_p.L238L|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Silent_p.L248L	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	248	SOCS box.				intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TCTCCAAGAAGAGCTGGGCCA	0.542000													59	6					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920126	30920126	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:30920126G>C	ENST00000462446.1	+	2	3913	c.3885G>C	c.(3883-3885)gaG>gaC	p.E1295D	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.E137D			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	419						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGGAAACGAGAGCCATCCAT	0.453000													35	70					0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36627450	36627450	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr22:36627450G>A	ENST00000249066.6	-	5	549	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	APOL2_ENST00000358502.5_Silent_p.L25L|APOL2_ENST00000451256.2_Silent_p.L137L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	25					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						AGTTGTAGCAGATTCTCTCTG	0.478000													46	51					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39219929	39219929	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:39219929G>C	ENST00000252699.2	+	21	2669	c.2593G>C	c.(2593-2595)Gag>Cag	p.E865Q	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.E475Q|ACTN4_ENST00000390009.3_Missense_Mutation_p.E646Q	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	865					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATCACAGCTGAGGAGCTGCG	0.687000													17	26					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174538	112174538	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:112174538G>C	ENST00000457016.1	+	16	3627	c.3247G>C	c.(3247-3249)Gat>Cat	p.D1083H	APC_ENST00000508376.2_Missense_Mutation_p.D1083H|APC_ENST00000257430.4_Missense_Mutation_p.D1083H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1083	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAGAGCACTGATGATAAACA	0.408000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			30	13					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141306	33141306	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:33141306G>A	ENST00000341947.2	-	36	2882	c.2655C>T	c.(2653-2655)aaC>aaT	p.N885N	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.N838N|COL11A2_ENST00000361917.1_Silent_p.N778N|COL11A2_ENST00000395197.1_Silent_p.N825N|COL11A2_ENST00000357486.1_Silent_p.N864N|COL11A2_ENST00000374714.1_Silent_p.N859N|COL11A2_ENST00000374712.1_Silent_p.N804N|COL11A2_ENST00000374708.4_Silent_p.N799N	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	885	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGAAACCCGTTGGGACCCT	0.622000													39	69					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150422117	150422117	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:150422117T>G	ENST00000389378.2	-	11	1706	c.1118A>C	c.(1117-1119)aAg>aCg	p.K373T	TNIP1_ENST00000315050.7_Missense_Mutation_p.K373T|TNIP1_ENST00000520931.1_Missense_Mutation_p.K320T|TNIP1_ENST00000524280.1_Missense_Mutation_p.K373T|TNIP1_ENST00000522226.1_Missense_Mutation_p.K373T|TNIP1_ENST00000523200.1_Missense_Mutation_p.K373T|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000518977.1_Missense_Mutation_p.K373T|TNIP1_ENST00000521591.1_Missense_Mutation_p.K373T|TNIP1_ENST00000523338.1_Missense_Mutation_p.K373T	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	373	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTTCAATCTTGGACTTGGC	0.577000													38	10					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65267600	65267600	+	RNA	SNP	A	A	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:65267600A>G	ENST00000534336.1	+	0	2368					NR_002819.2																						ACTTGAAGCTAGAAGGGGAAG	0.353000													3	3					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31131677	31131677	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:31131677G>A	ENST00000543774.2	+	4	639	c.304G>A	c.(304-306)Gag>Aag	p.E102K	KAT8_ENST00000448516.2_Missense_Mutation_p.E102K|KAT8_ENST00000219797.4_Missense_Mutation_p.E102K			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	102	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GCGGCTGGACGAGTGGGTAGA	0.587000													47	50					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	29					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31530066	31530066	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr22:31530066C>T	ENST00000331075.5	+	13	2731	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	INPP5J_ENST00000404453.1_Silent_p.F259F|INPP5J_ENST00000401755.1_Silent_p.F259F|INPP5J_ENST00000402238.1_Silent_p.F233F|INPP5J_ENST00000404390.3_Silent_p.F526F|INPP5J_ENST00000400294.2_Silent_p.F527F|INPP5J_ENST00000405300.1_Silent_p.F527F|INPP5J_ENST00000412277.2_Silent_p.F827F	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	894	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGGCCAGGTTCCCTGGGCTTG	0.687000													6	7					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40441970	40441970	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:40441970G>A	ENST00000280871.4	-	2	649	c.599C>T	c.(598-600)tCa>tTa	p.S200L	SLC2A13_ENST00000380858.1_Missense_Mutation_p.S200L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	200						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATTGGGTGGTGAGACCTCCGC	0.408000										HNSCC(50;0.14)			95	56					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94798572	94798572	+	Silent	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:94798572G>C	ENST00000453321.3	+	13	1468	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	TMEM67_ENST00000409623.3_Silent_p.L389L	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	470					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAATATCACTGAGGTAAACAA	0.358000													8	87					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460584	27460584	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:27460584C>T	ENST00000337929.3	+	9	2070	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	IL21R_ENST00000564089.1_Missense_Mutation_p.P533S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.P533S|IL21R_ENST00000395755.1_Missense_Mutation_p.P533S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	533					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACTTTCGAGCCCTGGACCCCA	0.647000			T	BCL6	NHL								15	28					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47892368	47892368	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:47892368C>G	ENST00000396105.1	-	2	255	c.9G>C	c.(7-9)gaG>gaC	p.E3D	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E3D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E3D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	3							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGTCTTCTCTCCTCCATGT	0.433000													32	64					0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153803904	153803904	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:153803904G>A	ENST00000451320.2	+	7	827	c.663G>A	c.(661-663)caG>caA	p.Q221Q	ARFIP1_ENST00000356064.3_Silent_p.Q189Q|ARFIP1_ENST00000429148.2_Silent_p.Q41Q|ARFIP1_ENST00000353617.2_Silent_p.Q221Q|ARFIP1_ENST00000405727.2_Silent_p.Q189Q			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	221	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CCGATACCCAGAAACTGCTGG	0.338000													16	20					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76719769	76719769	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr10:76719769G>A	ENST00000287239.4	+	4	1152	c.663G>A	c.(661-663)ggG>ggA	p.G221G	KAT6B_ENST00000372711.1_Silent_p.G221G|KAT6B_ENST00000372714.1_Silent_p.G221G|KAT6B_ENST00000372725.1_Silent_p.G221G|KAT6B_ENST00000372724.1_Silent_p.G221G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	221					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCTGTTTGGGGACTAAAGAAT	0.358000													11	84					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109072065	109072065	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:109072065C>T	ENST00000261401.3	-	3	473	c.301G>A	c.(301-303)Gag>Aag	p.E101K	CORO1C_ENST00000541050.1_Missense_Mutation_p.E101K|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Missense_Mutation_p.E154K|CORO1C_ENST00000549772.1_Missense_Mutation_p.E107K|CORO1C_ENST00000421578.2_5'UTR	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	101					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GTGCAGTCCTCTGAACCGCTG	0.517000													21	64					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812888	131812888	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:131812888G>A	ENST00000409185.1	-	5	539	c.432C>T	c.(430-432)gtC>gtT	p.V144V	FAM168B_ENST00000389915.3_Silent_p.V144V	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	144										endometrium(3)|lung(2)	5						TGCCCATGGTGACCCCGTTGC	0.632000													58	102					0	0	1	0	0
HBBP1	3044	broad.mit.edu	37	11	5264408	5264408	+	RNA	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:5264408G>A	ENST00000454892.1	-	0	88					NR_001589.1																						TGCCTTTGAGGTCATCCGTGA	0.502000													10	9					0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26879452	26879452	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:26879452C>G	ENST00000301032.4	-	1	197	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	UNC119_ENST00000335765.4_Missense_Mutation_p.E42Q	NM_054035.2	NP_473376.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	42					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCGTCCGGCTCCGACTCGGAC	0.746000													4	5					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497792	95497792	+	RNA	SNP	C	C	A	rs28521748		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:95497792C>A	ENST00000432432.2	-	0	1051					NR_040113.1																						CTTTTTCATGCGAAGGTCCAG	0.413000													5	304					0.000602214	0.00060435	1	1	0
MACF1	23499	broad.mit.edu	37	1	39927577	39927577	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:39927577G>C	ENST00000564288.1	+	93	22323	c.21546G>C	c.(21544-21546)gaG>gaC	p.E7182D	MACF1_ENST00000539005.1_Missense_Mutation_p.E4993D|MACF1_ENST00000567887.1_Missense_Mutation_p.E7219D|MACF1_ENST00000361689.2_Missense_Mutation_p.E5123D|MACF1_ENST00000372915.3_Missense_Mutation_p.E7081D|MACF1_ENST00000317713.7_Missense_Mutation_p.E5123D|MACF1_ENST00000289893.4_Missense_Mutation_p.E5625D|MACF1_ENST00000545844.1_Missense_Mutation_p.E5123D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7081	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAAGTTAGAGATGACTGCTG	0.408000													41	101					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187534351	187534351	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:187534351G>A	ENST00000441802.2	-	13	9584	c.9375C>T	c.(9373-9375)ttC>ttT	p.F3125F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3125	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATCGGCAGAGAATTCGGGGG	0.537000										HNSCC(5;0.00058)			31	29					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7217675	7217675	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:7217675G>C	ENST00000380728.2	-	4	552	c.252C>G	c.(250-252)caC>caG	p.H84Q	GPS2_ENST00000391950.3_Missense_Mutation_p.H84Q|GPS2_ENST00000389167.5_Missense_Mutation_p.H84Q|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	84					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGAAAAGCTGGTGCTTCTCTT	0.473000													61	12					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829054	72829054	+	Silent	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:72829054G>C	ENST00000268489.5	-	9	8199	c.7527C>G	c.(7525-7527)ctC>ctG	p.L2509L	ZFHX3_ENST00000397992.5_Silent_p.L1595L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2509					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGAGGGGCTTGAGGGGCAGGT	0.597000													42	43					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585924	20585924	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:20585924C>T	ENST00000202677.7	-	15	1940	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTCAAGGAGTCCATAATGTTG	0.458000													23	52					0	0	1	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911003	62911003	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:62911003C>T	ENST00000417740.1	-	1	690	c.249G>A	c.(247-249)ctG>ctA	p.L83L	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Silent_p.L83L	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						TCTGTGGCCTCAGGTTTGAGT	0.567000													14	28					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159672434	159672434	+	Silent	SNP	C	C	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:159672434C>A	ENST00000297267.9	+	17	5135	c.4935C>A	c.(4933-4935)ccC>ccA	p.P1645P	FNDC1_ENST00000340366.6_Silent_p.P1582P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1645						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAATCATCCCCAATGACCTGA	0.542000													12	28					1.08611e-07	1.09774e-07	1	1	0
HEXDC	284004	broad.mit.edu	37	17	80386488	80386488	+	Silent	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:80386488G>C	ENST00000337014.6	+	4	723	c.249G>C	c.(247-249)gtG>gtC	p.V83V	HEXDC_ENST00000327949.9_Silent_p.V83V|HEXDC_ENST00000577944.1_Silent_p.V83V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	83					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGCTGGAGGTGATTCCCTTGG	0.542000													124	12					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124384	142124384	+	RNA	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:142124384G>A	ENST00000390376.2	-	0	93																											CCTGTCTTCAGGATGTGGAAT	0.527000													43	85					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756762	94756762	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:94756762C>T	ENST00000554723.1	-	2	707	c.289G>A	c.(289-291)Gag>Aag	p.E97K	SERPINA10_ENST00000393096.1_Missense_Mutation_p.E57K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E57K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E57K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	57					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E57K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCCTTCTCCTCGCTGGCCTCC	0.597000													18	22					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9549239	9549239	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr18:9549239C>T	ENST00000400556.3	-	19	2718	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.R865Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	882					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AAGCAGCACTCGCACGTTAGG	0.478000													29	127					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125398321	125398321	+	Splice_Site	SNP	C	C	G	rs11537765		TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:125398321C>G	ENST00000339647.5	-	2	561		c.e2-1		UBC_ENST00000536769.1_5'UTR|UBC_ENST00000546120.1_Splice_Site|UBC_ENST00000536661.1_Intron|UBC_ENST00000538617.1_Splice_Site	NM_021009.5	NP_066289.2	P0CG48	UBC_HUMAN	ubiquitin C						activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTGCATTGTCTAACAAAAAA	0.413000													35	87					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822269	129822269	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:129822269G>A	ENST00000422113.2	-	4	1535	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	403						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGGTACTCGACCTGCCACG	0.577000													155	92					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	35					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71891532	71891532	+	Splice_Site	SNP	G	G	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:71891532G>C	ENST00000286648.5	+	5	946		c.e5-1		DCK_ENST00000504730.1_Intron|DCK_ENST00000504952.1_Splice_Site	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase						purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CTTGCTTTTAGACATGCTTAC	0.368000													52	57					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547660	125547660	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:125547660C>G	ENST00000431078.1	+	18	3295	c.2931C>G	c.(2929-2931)caC>caG	p.H977Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	977	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGAGAAGCACAATGGCTACC	0.552000													38	31					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326836	57326836	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:57326836C>T	ENST00000326441.9	-	10	3337	c.2974G>A	c.(2974-2976)Gat>Aat	p.D992N	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D866N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D868N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D992N|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	992					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTCCCTATCATGAATCTTC	0.502000													41	55					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023154	18023154	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:18023154C>T	ENST00000205890.5	+	2	1378	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	347	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GATCCCTATGCGCCGTACGAC	0.597000													4	125					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720479	140720479	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:140720479G>A	ENST00000394576.2	+	1	1941	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCATCCAGGACCACGGCC	0.706000													91	19					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34651890	34651890	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:34651890G>A	ENST00000314891.6	-	13	1476	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	433					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGATGGTGCTGAAGCCGTCTT	0.577000													14	25					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981896	64981896	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:64981896C>T	ENST00000268603.4	-	13	2616	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.G541G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	667					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCCCCACCCCCTTCATCAT	0.433000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			46	44					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569251	53569251	+	Silent	SNP	T	T	C			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:53569251T>C	ENST00000025008.5	-	15	3661	c.3138A>G	c.(3136-3138)ttA>ttG	p.L1046L	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.L1046L|RB1CC1_ENST00000435644.2_Silent_p.L1046L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1046					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCTTGAGTTTTAATTCCTGTA	0.328000													34	86					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407682	1407682	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:1407682C>G	ENST00000381524.3	+	6	560	c.374C>G	c.(373-375)tCc>tGc	p.S125C	CSF2RA_ENST00000355805.2_Missense_Mutation_p.S125C|CSF2RA_ENST00000381500.1_Missense_Mutation_p.S125C|CSF2RA_ENST00000355432.3_Missense_Mutation_p.S125C|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.S125C|CSF2RA_ENST00000381509.3_Missense_Mutation_p.S125C|CSF2RA_ENST00000361536.3_Missense_Mutation_p.S125C|CSF2RA_ENST00000381529.3_Missense_Mutation_p.S125C|CSF2RA_ENST00000432318.2_Missense_Mutation_p.S125C			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	125						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGAATTTCTCCTGTTTCATC	0.488000													99	149					0	0	1	0	0
ZNF784	147808	broad.mit.edu	37	19	56133854	56133854	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:56133854C>T	ENST00000325351.4	-	2	274	c.235G>A	c.(235-237)Gag>Aag	p.E79K	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AACAGCAGCTCGGAAACCAGC	0.692000													20	19					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12759137	12759137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:12759137C>G	ENST00000456935.2	-	21	2556	c.2516G>C	c.(2515-2517)cGa>cCa	p.R839P	CTD-2192J16.22_ENST00000597692.1_Silent_p.A25A|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R838P	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	839					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGCGCCCTCGCACCCACGC	0.701000													19	30					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79772117	79772117	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr4:79772117C>G	ENST00000335016.5	+	7	956	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	BMP2K_ENST00000502871.1_Missense_Mutation_p.L264V	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	264	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTCTTCACTCTTCCTTTTGG	0.383000													22	42					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180364958	180364958	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:180364958G>A	ENST00000273654.4	-	17	2307	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	CCDC39_ENST00000442201.2_Missense_Mutation_p.A479V			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	479					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.A479V(1)|p.A563V(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGCTTCAAGCGCTTGTTTTTC	0.343000													23	27					0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616568	91616568	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:91616568G>A	ENST00000375846.3	+	1	5148	c.453G>A	c.(451-453)agG>agA	p.R151R	S1PR3_ENST00000358157.2_Silent_p.R151R			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	151					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CCAACAAGAGGCACCGCGTCT	0.597000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	8					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975242	44975242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:44975242G>A	ENST00000340446.4	-	1	1240	c.949C>T	c.(949-951)Cag>Tag	p.Q317*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	317				Q -> R (in Ref. 1; CAI45927).		cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGTGGAGGCTGAACTTTAACA	0.507000													54	83					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876486	57876486	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:57876486C>G	ENST00000311585.7	+	2	444	c.74C>G	c.(73-75)tCt>tGt	p.S25C	EDN3_ENST00000395654.3_Missense_Mutation_p.S25C|EDN3_ENST00000371028.2_Missense_Mutation_p.S25C|EDN3_ENST00000337938.2_Missense_Mutation_p.S25C|EDN3_ENST00000371025.3_Missense_Mutation_p.S25C	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	25					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TGCTCCCAGTCTGGGGATGCT	0.642000													50	29					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161059	161161059	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:161161059G>A	ENST00000367996.5	-	9	2811	c.2383C>T	c.(2383-2385)Cgc>Tgc	p.R795C		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TATCGGAGGCGTGTGTCCTGG	0.642000													30	62					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155500278	155500278	+	Splice_Site	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:155500278G>A	ENST00000461783.3	+	13	3901		c.e13+1		TIAM2_ENST00000456877.2_Splice_Site|TIAM2_ENST00000318981.5_Splice_Site|TIAM2_ENST00000367174.2_Splice_Site|TIAM2_ENST00000360366.4_Splice_Site|TIAM2_ENST00000529824.2_Splice_Site|TIAM2_ENST00000456144.1_Splice_Site|TIAM2_ENST00000528391.2_Splice_Site			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCAACAACAGGTAAGTGTGCA	0.398000													21	24					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13395906	13395906	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:13395906A>G	ENST00000360228.5	-	21	3667	c.3668T>C	c.(3667-3669)aTg>aCg	p.M1223T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M1224T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1224					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGATGAACATGGAGCTATA	0.607000													48	41					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5473848	5473848	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:5473848G>A	ENST00000296564.7	+	16	6622	c.6400G>A	c.(6400-6402)Gat>Aat	p.D2134N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2134										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGGACGCATGATAACATCAT	0.333000													11	33					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30370105	30370105	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:30370105C>G	ENST00000340513.4	+	12	1744	c.1216C>G	c.(1216-1218)Cct>Gct	p.P406A	TPX2_ENST00000300403.6_Missense_Mutation_p.P370A			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	370					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCCACAGACTCCTGTACTGCA	0.498000													141	138					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558309	140558309	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:140558309G>A	ENST00000239444.2	+	1	939	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		232	Cadherin 2.		E -> G (in dbSNP:rs17096954).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTACATTGAAGTTGTCGA	0.507000													102	268					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169443	207169443	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr2:207169443C>G	ENST00000374423.3	+	5	577	c.191C>G	c.(190-192)tCa>tGa	p.S64*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	64							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGTTTTAGTTCAACACAAGAT	0.358000													16	41					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112987159	112987159	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:112987159C>G	ENST00000495514.1	+	5	1094	c.390C>G	c.(388-390)ttC>ttG	p.F130L	BOC_ENST00000355385.3_Missense_Mutation_p.F130L|BOC_ENST00000273395.4_Missense_Mutation_p.F130L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	130	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCCAGGACTTCAAGTTAGATG	0.537000													9	17					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26609156	26609156	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:26609156G>A	ENST00000314675.7	-	10	995	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	UBXN11_ENST00000357089.4_Silent_p.L393L|UBXN11_ENST00000374223.1_Silent_p.L183L|UBXN11_ENST00000374222.1_Silent_p.L426L|UBXN11_ENST00000374217.2_Silent_p.L393L|UBXN11_ENST00000374221.3_Silent_p.L426L	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	426						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TGCGCTAGCAGAGCTCGCACG	0.647000													36	63					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47512440	47512440	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr6:47512440G>A	ENST00000359314.5	+	4	874	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	140	Interaction with ANLN and localization to the midbody.|SH3 2.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TATTAATGAAGAGGTAAGGAA	0.318000													20	22					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413259	72413259	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:72413259G>A	ENST00000395270.1	+	14	2973	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000434423.2_Silent_p.T909T|POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000257622.4_Silent_p.T644T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCGTGCCAACGGCCACCAGCA	0.627000													6	294					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196088762	196088762	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:196088762C>G	ENST00000296328.4	-	10	1335	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	UBXN7_ENST00000428095.1_Missense_Mutation_p.D259H|UBXN7_ENST00000535858.1_Missense_Mutation_p.D273H	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	421	UBX.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTTTTTCCATCTGGATACCGC	0.403000													22	29					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42540400	42540400	+	RNA	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr22:42540400C>G	ENST00000358097.4	-	0	150				CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						GCCGGTGCATCAGGTCCACCA	0.637000													8	13					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20020001	20020001	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:20020001C>T	ENST00000551509.1	-	1	271	c.220G>A	c.(220-222)Ggg>Agg	p.G74R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	74										endometrium(4)|kidney(1)|lung(4)	9						TTGCCGCTCCCCCTGCACCAG	0.587000													90	881					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43531747	43531747	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:43531747G>A	ENST00000395891.2	+	18	3913	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1069Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTGCTATTCGAAGCCAACAT	0.428000													13	69					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16340310	16340310	+	Silent	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr21:16340310G>A	ENST00000400202.1	-	3	916	c.204C>T	c.(202-204)ctC>ctT	p.L68L	NRIP1_ENST00000400199.1_Silent_p.L68L|NRIP1_ENST00000318948.4_Silent_p.L68L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	68					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TATGTGTATTGAGAACTGGAC	0.468000													9	39					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178411881	178411881	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:178411881G>T	ENST00000448150.3	+	8	1763	c.945G>T	c.(943-945)aaG>aaT	p.K315N	RASAL2_ENST00000462775.1_Missense_Mutation_p.K185N|RASAL2_ENST00000367649.3_Missense_Mutation_p.K333N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	185					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCCTAAAAAGAAATATTTCT	0.413000													24	66					1.66031e-10	1.69627e-10	1	1	0
MSL3	10943	broad.mit.edu	37	X	11780321	11780321	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:11780321C>G	ENST00000337339.2	+	6	565	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	MSL3_ENST00000361672.2_Missense_Mutation_p.L31V|MSL3_ENST00000312196.4_Missense_Mutation_p.L180V|MSL3_ENST00000398527.2_Missense_Mutation_p.L168V|MSL3_ENST00000380693.3_Missense_Mutation_p.L14V	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	180					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCCTGAAGTTCTGAAGAAGCA	0.338000													49	11					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101226083	101226083	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr8:101226083C>T	ENST00000388798.2	+	12	1663	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	SPAG1_ENST00000523302.1_Intron|SPAG1_ENST00000251809.3_Missense_Mutation_p.S491L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	491					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATCTTATATTCAAATAGAGCA	0.333000													16	72					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183910614	183910614	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr3:183910614C>T	ENST00000429586.2	+	18	1865	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	ABCF3_ENST00000292808.5_Silent_p.F554F|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	560	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGGCTATTTCAGCCAGCACC	0.547000													18	22					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161761271	161761271	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:161761271C>T	ENST00000367942.3	+	5	495	c.428C>T	c.(427-429)tCt>tTt	p.S143F		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	143	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AATAGTCTCTCTTCAGCGGAG	0.383000													44	26					0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80282743	80282743	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:80282743C>G	ENST00000269389.3	-	3	468	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	SECTM1_ENST00000580437.1_Missense_Mutation_p.E40Q	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	40					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			ACTACCCCCTCTGTGCAGATG	0.622000													39	2					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223027	25223027	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:25223027C>G	ENST00000444203.2	+	6	1574	c.535C>G	c.(535-537)Ccg>Gcg	p.P179A	SNRPN_ENST00000390687.4_Missense_Mutation_p.P175A|SNRPN_ENST00000346403.6_Missense_Mutation_p.P175A|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400097.1_Missense_Mutation_p.P175A|SNRPN_ENST00000400100.1_Missense_Mutation_p.P175A|SNRPN_ENST00000577565.1_Missense_Mutation_p.P175A|SNRPN_ENST00000554227.2_Missense_Mutation_p.P179A|SNRPN_ENST00000400098.1_Missense_Mutation_p.P175A			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	175	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACGGGGCACTCCGCCCCCACC	0.557000									Prader-Willi syndrome				9	12					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747330	19747330	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:19747330C>T	ENST00000507958.1	-	6	1234	c.244G>A	c.(244-246)Gac>Aac	p.D82N	CDH18_ENST00000506372.1_Missense_Mutation_p.D82N|CDH18_ENST00000502796.1_Missense_Mutation_p.D82N|CDH18_ENST00000274170.4_Missense_Mutation_p.D82N|CDH18_ENST00000382275.1_Missense_Mutation_p.D82N|CDH18_ENST00000511273.1_Missense_Mutation_p.D82N			Q13634	CAD18_HUMAN	cadherin 18, type 2	82	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCACCTTTGTCAGAATTGGAG	0.373000													5	128					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937738	33937738	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:33937738G>A	ENST00000330120.3	+	1	1248	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	298						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCCGACCGCCGCGCGGCGGGG	0.662000													10	31					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57265188	57265188	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr16:57265188G>T	ENST00000537866.1	+	13	2359	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y	RSPRY1_ENST00000394420.4_Missense_Mutation_p.D496Y|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	496						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CACTTTTAATGACTACGCCTT	0.363000													23	33					1.10513e-12	1.13316e-12	1	1	0
OR52J3	119679	broad.mit.edu	37	11	5068254	5068254	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:5068254C>T	ENST00000380370.1	+	1	499	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTATCTACCGCCTACCCTT	0.438000													25	49					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222029	55222029	+	RNA	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:55222029C>T	ENST00000413439.1	+	0	1556																											CCATCACCCACTGCGTCTGAG	0.612000													43	62					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64641535	64641535	+	Silent	SNP	C	C	T			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:64641535C>T	ENST00000413366.3	+	5	461	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	145					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AATGCGTCATCAATGTCCCCA	0.512000													71	8					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611217	19611218	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:19611217_19611218delAG	ENST00000361640.4	-	5	1206_1207	c.666_667delCT	c.(664-669)cgcttcfs	p.F224fs		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	224					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCAAAGAAGCGGCCCACGG	0.574													81	83	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201981271	201981272	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr1:201981271_201981272insG	ENST00000359651.3	+	2	3542_3543	c.350_351insG	c.(349-354)ctggggfs	p.LG117fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.LG117fs|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.LG117fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	117	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTTGGGCCTCTGGGGGACCAAC	0.599													26	35	---	---	---	---					
RASA1	5921	broad.mit.edu	37	5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	TTATC	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr5:86627234_86627238delTTATC	ENST00000456692.2	+	2	193_197	c.78_82delTTATC	c.(76-84)agttatcttfs	p.YL27fs	RASA1_ENST00000512763.1_Frame_Shift_Del_p.YL37fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.YL38fs|RASA1_ENST00000274376.6_Frame_Shift_Del_p.YL204fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	204					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTCTGGCAGTTATCTTATAAGAGA	0.415													50	25	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423													2	4	---	---	---	---					
LINC01239	441389	broad.mit.edu	37	9	22823496	22823497	+	RNA	INS	-	-	C	rs146924324	by1000genomes	TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr9:22823496_22823497insC	ENST00000436786.1	+	0	1631_1632					NR_038977.1																						acttgggttttctgttgagatg	0.520													7	0	---	---	---	---					
TCIRG1	10312	broad.mit.edu	37	11	67815128	67815128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr11:67815128delC	ENST00000265686.3	+	12	1428	c.1320delC	c.(1318-1320)ttcfs	p.F441fs	TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.F225fs	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	441					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCAGACTTTCTTCAGGGGCC	0.632													44	77	---	---	---	---					
LACRT	90070	broad.mit.edu	37	12	55027016	55027016	+	Splice_Site	DEL	T	T	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr12:55027016delT	ENST00000257867.4	-	2	113	c.60delA	c.(58-60)gaa>ga	p.E20fs	LACRT_ENST00000547511.1_Splice_Site_p.E20fs	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	20					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						AGGAGGCATCTTCTGCAATGG	0.587													12	214	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36244890	36244896	+	Frame_Shift_Del	DEL	ATAGTAT	ATAGTAT	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr14:36244890_36244896delATAGTAT	ENST00000258840.6	-	2	552_558	c.162_168delATACTAT	c.(160-168)atatactatfs	p.IYY54fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.IYY54fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.IYY54fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.IYY54fs	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	54					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAAGAACACATAGTATATATGTGAAA	0.256													14	27	---	---	---	---					
C15orf27	123591	broad.mit.edu	37	15	76484326	76484327	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr15:76484326_76484327delGC	ENST00000388942.3	+	9	1062_1063	c.786_787delGC	c.(784-789)ctgcgcfs	p.R263fs		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	263						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCGGCAGCTGCGCGCGCACCT	0.718													11	17	---	---	---	---					
CACNG5	27091	broad.mit.edu	37	17	64880634	64880638	+	Splice_Site	DEL	CCTCT	CCTCT	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:64880634_64880638delCCTCT	ENST00000533854.1	+	5	663_667	c.426_430delCCTCT	c.(424-432)ggcctctct>ggct	p.LS143fs	CACNG5_ENST00000169565.3_Splice_Site_p.LS143fs|CACNG5_ENST00000307139.3_Splice_Site_p.LS143fs			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	143					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCCAACCAGGCCTCTCTCTCGTGGT	0.571													18	65	---	---	---	---					
RPTOR	57521	broad.mit.edu	37	17	78935255	78935255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr17:78935255delC	ENST00000306801.3	+	31	4029	c.3667delC	c.(3667-3669)cccfs	p.P1223fs	CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000544334.2_Frame_Shift_Del_p.P1065fs|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1223					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCAGAAGCGTCCCGACGGCCA	0.582													2	4	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													4	4	---	---	---	---					
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542													7	789	---	---	---	---					
CSF2RB	1439	broad.mit.edu	37	22	37334428	37334428	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chr22:37334428delC	ENST00000262825.5	+	14	2813	c.2596delC	c.(2596-2598)cccfs	p.P867fs	CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P867fs|CSF2RB_ENST00000403662.3_Frame_Shift_Del_p.P861fs|CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P808fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	861					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGTCAAGAAGCCCCCAGGCCA	0.622													7	362	---	---	---	---					
AMOT	154796	broad.mit.edu	37	X	112022477	112022479	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A62O-01A-11D-A30E-08	TCGA-FD-A62O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09827916-1be1-4439-80a1-66a32810cf67	b1bcbe70-09b6-46fe-92de-3e64e32249c0	g.chrX:112022477_112022479delCAG	ENST00000371959.3	-	10	2902_2904	c.2903_2905delCTG	c.(2902-2907)gctgtt>gtt	p.A968del	AMOT_ENST00000371962.1_In_Frame_Del_p.A736del|AMOT_ENST00000524145.1_In_Frame_Del_p.A968del|AMOT_ENST00000304758.1_In_Frame_Del_p.A559del	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	968					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCAACCTGAAcagcagcagcagc	0.616													2	4	---	---	---	---					
