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
CYB5R3	1727	broad.mit.edu	37	22	43032743	43032743	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:43032743G>A	ENST00000361740.4	-	2	229	c.230C>T	c.(229-231)cCg>cTg	p.P77L	CYB5R3_ENST00000407332.1_Missense_Mutation_p.P21L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P21L|CYB5R3_ENST00000407623.3_Missense_Mutation_p.P21L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.P21L|CYB5R3_ENST00000352397.5_Missense_Mutation_p.P44L	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	44	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	GAGCCGCAGCGGGTACTTGAT	0.632000													7	7					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130834176	130834176	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:130834176T>C	ENST00000509018.1	-	12	1584	c.1379A>G	c.(1378-1380)aAa>aGa	p.K460R	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.K460R|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.K175R|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.K460R|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.K460R|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.K510R|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.K460R|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.K460R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	460	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTCCAATAGTTTGATCCCAAC	0.318000													64	23					0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326880	52326880	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:52326880G>T	ENST00000436784.2	+	5	1370	c.1310G>T	c.(1309-1311)tGg>tTg	p.W437L	GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	437					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TTGAGAAGGTGGCCGCTGGGG	0.662000													44	34					1.81118e-26	2.11587e-26	1	1	0
YBX2	51087	broad.mit.edu	37	17	7193038	7193038	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:7193038G>A	ENST00000007699.5	-	7	918	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	285	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCCTGGGGCGGAAAGGCCTAA	0.672000													56	27					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30726012	30726012	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:30726012C>T	ENST00000361762.2	+	1	3976	c.2968C>T	c.(2968-2970)Cct>Tct	p.P990S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P990S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	990					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCCGGCAGTCCTGACCTGGC	0.507000													18	41					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212553312	212553312	+	Missense_Mutation	SNP	C	C	T	rs141387916		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:212553312C>T	ENST00000261455.4	-	5	700	c.563G>A	c.(562-564)cGc>cAc	p.R188H	TMEM206_ENST00000535273.1_Missense_Mutation_p.R249H	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	188						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTTGTTCAGGCGGAACTGGAG	0.522000													22	90					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8110599	8110599	+	Silent	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:8110599C>A	ENST00000223145.5	+	6	1572	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	339										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGCTCATTACCGGAGCAGTAG	0.493000													21	60					2.70639e-06	2.81916e-06	1	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	67					0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359015	103359015	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chrX:103359015C>T	ENST00000537356.3	+	2	1627	c.213C>T	c.(211-213)gtC>gtT	p.V71V	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18								nucleic acid binding|zinc ion binding										TCAATGAGGTCCTGCCAGATT	0.507000													24	7					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78169063	78169063	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:78169063C>T	ENST00000573882.1	+	12	1966	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.A477V|CARD14_ENST00000392434.2_Missense_Mutation_p.A240V|CARD14_ENST00000344227.2_Missense_Mutation_p.A477V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	477					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCAGCCCCGCGCCCCCCAGC	0.657000													10	12					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124104079	124104079	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:124104079C>T	ENST00000238146.4	+	13	1484	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	DDX55_ENST00000538744.1_Silent_p.D447D|DDX55_ENST00000421670.3_Silent_p.D85D|DDX55_ENST00000541259.1_3'UTR	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	478							ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGCCCGTGGACGTTAATACCG	0.443000													21	61					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128925983	128925983	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:128925983C>T	ENST00000280333.6	+	27	2848	c.2739C>T	c.(2737-2739)acC>acT	p.T913T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	913					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCTCCGGACCGTGAACCGAA	0.483000													4	68					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142397093	142397093	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:142397093G>A	ENST00000258042.1	-	3	1005	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	289					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTGAAAGACCGATACATGTAA	0.428000													23	27					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737333	248737333	+	Silent	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:248737333G>C	ENST00000328782.2	-	1	747	c.726C>G	c.(724-726)gcC>gcG	p.A242A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTGGCCAAGGCCTTCCTGC	0.567000													26	140					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652373	69652373	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:69652373G>C	ENST00000435070.2	+	6	808	c.698G>C	c.(697-699)gGa>gCa	p.G233A	CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.G270A|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	233	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTTTTAGCTGGACAGACTCCA	0.458000													22	32					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345804	92345804	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr13:92345804A>T	ENST00000377067.3	+	3	1061	c.689A>T	c.(688-690)aAt>aTt	p.N230I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	230						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGGCACTCAATCTGGGCATT	0.542000													27	6					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147648378	147648378	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:147648378C>T	ENST00000367481.3	+	18	2154	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	STXBP5_ENST00000367480.3_Silent_p.P682P|STXBP5_ENST00000321680.6_Silent_p.P682P|STXBP5_ENST00000179882.6_Silent_p.P353P	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	682					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAGAGAACCCCGATCTCCTC	0.418000													27	23					0	0	1	0	0
KCTD2	23510	broad.mit.edu	37	17	73055695	73055695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:73055695G>T	ENST00000322444.6	+	4	637	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	KCTD2_ENST00000581589.1_Nonsense_Mutation_p.E12*	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	211						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					CTGGAAATTCGAACAGGTACA	0.537000													13	15					3.27435e-08	3.46859e-08	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207169716	207169716	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:207169716T>C	ENST00000374423.3	+	5	850	c.464T>C	c.(463-465)aTt>aCt	p.I155T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	155							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						GTTCATAAAATTGGGGCCAGT	0.448000													14	10					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14891755	14891755	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:14891755G>A	ENST00000378372.3	+	6	651	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	138					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGATGCAAATGATGTAGTTAT	0.338000													13	87					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516060	51516060	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:51516060C>A	ENST00000328188.1	+	1	779	c.779C>A	c.(778-780)gCa>gAa	p.A260E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAGACCTGCAGCTACTTTA	0.423000													19	49					3.17567e-06	3.28065e-06	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38189554	38189554	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:38189554G>C	ENST00000355202.4	-	5	2073	c.1478C>G	c.(1477-1479)aCt>aGt	p.T493S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.T492S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCGATGTATAGTGAGTTTATG	0.393000													26	99					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113627845	113627845	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:113627845A>C	ENST00000358160.4	+	9	1322	c.830A>C	c.(829-831)aAa>aCa	p.K277T	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K72T|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K110T|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	277						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAACAGACCAAAAAGAGTCTC	0.363000													77	20					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917028	45917028	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:45917028G>T	ENST00000185206.6	-	3	893	c.741C>A	c.(739-741)atC>atA	p.I247I	CLIC5_ENST00000544153.1_Silent_p.I88I|CLIC5_ENST00000339561.6_Silent_p.I88I	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	247					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGAACTCCTCGATCTTATTGA	0.532000													29	73					8.4185e-14	9.39565e-14	1	1	0
ZBTB40	9923	broad.mit.edu	37	1	22838486	22838486	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:22838486A>T	ENST00000404138.1	+	12	2831	c.2320A>T	c.(2320-2322)Acc>Tcc	p.T774S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.T662S|ZBTB40_ENST00000375647.4_Missense_Mutation_p.T774S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	774					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGCAGTGAGACCAAGGATTC	0.537000													21	21					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78444649	78444649	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:78444649G>T	ENST00000306773.4	-	5	1420	c.1263C>A	c.(1261-1263)acC>acA	p.T421T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	421	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			AGGTCCACTTGGTGGCCCCTC	0.642000													37	19					8.16277e-20	9.27588e-20	1	1	0
WDR1	9948	broad.mit.edu	37	4	10079467	10079467	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:10079467G>A	ENST00000382452.2	-	13	1761	c.1479C>T	c.(1477-1479)acC>acT	p.T493T	WDR1_ENST00000502702.1_Silent_p.T353T|WDR1_ENST00000499869.2_Silent_p.T493T|WDR1_ENST00000382451.2_Silent_p.T353T|WDR1_ENST00000515743.1_5'UTR	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	493					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AGGCCACGTCGGTCACGGGGC	0.652000													5	8					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606405	82606405	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:82606405T>G	ENST00000518568.1	-	1	2004	c.803A>C	c.(802-804)cAt>cCt	p.H268P		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	268						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AACAGGAATATGGAATGTACC	0.363000													4	123					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39584376	39584376	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr18:39584376G>T	ENST00000262039.4	+	10	1127	c.1041G>T	c.(1039-1041)caG>caT	p.Q347H	PIK3C3_ENST00000398870.3_Missense_Mutation_p.Q284H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	347					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGGCCAAACAGGCCTTGGAAC	0.413000										TSP Lung(28;0.18)			12	9					0.105934	0.105934	1	1	0
PARP15	165631	broad.mit.edu	37	3	122354758	122354758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:122354758C>A	ENST00000483793.1	+	9	1303	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*	PARP15_ENST00000464300.2_Nonsense_Mutation_p.Y616*|PARP15_ENST00000493645.1_Nonsense_Mutation_p.Y313*|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Nonsense_Mutation_p.Y382*			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	594	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AGCACATGTACGTTGTGCGAG	0.483000													19	65					1.33834e-09	1.42985e-09	1	1	0
POLR3C	10623	broad.mit.edu	37	1	145601614	145601614	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:145601614G>A	ENST00000334163.3	-	7	952	c.792C>T	c.(790-792)agC>agT	p.S264S	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.S264S	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	264					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCACAATCTCGCTGCTTGTCT	0.453000													6	34					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706030	1706030	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:1706030G>T	ENST00000397412.3	+	10	1371	c.1272G>T	c.(1270-1272)gtG>gtT	p.V424V	CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Silent_p.V421V|CRAMP1L_ENST00000293925.5_Silent_p.V424V|LA16c-431H6.6_ENST00000454337.1_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	424						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TCTGCACAGTGCACTGGCAGG	0.667000													11	6					2.27111e-07	2.38562e-07	1	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750610	140750610	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:140750610G>T	ENST00000576222.1	+	1	780	c.649G>T	c.(649-651)Ggg>Tgg	p.G217W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTGGATGGGGGCGAGCC	0.547000													12	28					0.0135373	0.0136465	1	1	0
PCSK2	5126	broad.mit.edu	37	20	17339006	17339006	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr20:17339006G>A	ENST00000262545.2	+	3	632	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	PCSK2_ENST00000377899.1_Missense_Mutation_p.R87Q|PCSK2_ENST00000536609.1_Missense_Mutation_p.R71Q	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	106					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGATTTGACCGAAAAAAGCGA	0.388000													22	52					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103560119	103560119	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:103560119A>T	ENST00000361464.3	-	8	1470	c.1075T>A	c.(1075-1077)Tta>Ata	p.L359I	MGEA5_ENST00000370094.3_Missense_Mutation_p.L359I|MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000439817.1_Intron	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	359					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCATTTTCTAATTTTATCTGG	0.343000													19	45					0	0	1	0	0
COX5A	9377	broad.mit.edu	37	15	75221462	75221462	+	Missense_Mutation	SNP	C	C	T	rs150174803		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr15:75221462C>T	ENST00000322347.6	-	2	365	c.212G>A	c.(211-213)cGt>cAt	p.R71H	COX5A_ENST00000564811.1_Missense_Mutation_p.R71H|COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000568783.1_Missense_Mutation_p.R71H|COX5A_ENST00000562233.1_Missense_Mutation_p.R71H|COX5A_ENST00000567270.1_Intron	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	71					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						ATTACCTTTACGCAATTCCCA	0.413000													48	72					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766952	77766952	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:77766952G>A	ENST00000521891.2	+	10	8243	c.7795G>A	c.(7795-7797)Ggt>Agt	p.G2599S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2554S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2573S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2554S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2554						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGGAATAGCGGTGAAGACCA	0.458000										HNSCC(33;0.089)			12	29					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798859	241798859	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:241798859T>G	ENST00000366553.1	-	1	373	c.210A>C	c.(208-210)gaA>gaC	p.E70D	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	70					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CAGTACTTTCTTCCCCAATGT	0.418000													60	203					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151744	3151744	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:3151744C>T	ENST00000262958.3	+	4	783	c.525C>T	c.(523-525)taC>taT	p.Y175Y	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	175					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGGAGGGCTACGTCCCCACAG	0.642000													41	74					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31150574	31150574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:31150574G>A	ENST00000268281.4	-	15	2511	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	PRSS36_ENST00000418068.2_Missense_Mutation_p.S715F|PRSS36_ENST00000569305.1_Missense_Mutation_p.S813F	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	818					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGTGTGGGGAGCCACTGGG	0.632000													10	61					0	0	1	0	0
GNG4	2786	broad.mit.edu	37	1	235715501	235715501	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:235715501C>T	ENST00000391854.2	-	4	589	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	GNG4_ENST00000450593.1_Missense_Mutation_p.E46K|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366598.4_Missense_Mutation_p.E46K|GNG4_ENST00000366597.1_Missense_Mutation_p.E46K	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	46					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			ACGTGAGCTTCACAGTAGGCC	0.542000													82	69					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39730925	39730925	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:39730925C>A	ENST00000395670.3	-	17	2810	c.2391G>T	c.(2389-2391)caG>caT	p.Q797H	KIF21A_ENST00000361418.5_Missense_Mutation_p.Q797H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q784H|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q784H|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q784H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	797					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTTTTTCAACTGAGCAATCT	0.333000													108	45					2.55716e-62	3.04423e-62	1	1	0
OGG1	4968	broad.mit.edu	37	3	9798767	9798767	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:9798767G>A	ENST00000344629.7	+	7	1314	c.971G>A	c.(970-972)cGc>cAc	p.R324H	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.A330T|OGG1_ENST00000339511.5_3'UTR			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	324					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GCCGACCTGCGCCAATCCCGC	0.602000								Base excision repair (BER), DNA glycosylases					32	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528611	179528611	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:179528611T>G	ENST00000589042.1	-	170	36607	c.36383A>C	c.(36382-36384)gAg>gCg	p.E12128A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10277	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGGATAACCTCTTTGGAAGC	0.418000													30	115					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46318787	46318787	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:46318787C>T	ENST00000465950.1	-	2	3894	c.2685G>A	c.(2683-2685)ccG>ccA	p.P895P	SCAF11_ENST00000419565.2_Silent_p.P1210P|SCAF11_ENST00000369367.3_Silent_p.P1210P|SCAF11_ENST00000549162.1_Silent_p.P1018P			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1210	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATTCATTTGCGGTTGCATCA	0.378000													18	50					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133733	57133733	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:57133733G>A	ENST00000328070.6	+	3	1312	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAGCGAGTGCGGCAAGGCCTT	0.627000													21	98					0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101490988	101490988	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:101490988G>A	ENST00000370109.3	-	2	124	c.12C>T	c.(10-12)ctC>ctT	p.L4L	DPH5_ENST00000488176.1_Silent_p.L4L|DPH5_ENST00000342173.7_Silent_p.L4L|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	4					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CCAACCCGATGAGATAAAGCA	0.488000													15	45					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													4	20					0	0	1	0	0
OSCP1	127700	broad.mit.edu	37	1	36886081	36886081	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:36886081C>G	ENST00000356637.5	-	9	1048	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	OSCP1_ENST00000433045.2_Missense_Mutation_p.E274Q|OSCP1_ENST00000235532.5_Missense_Mutation_p.E319Q|OSCP1_ENST00000315643.9_Splice_Site_p.G329R|OSCP1_ENST00000495222.1_Intron			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	329					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						acatactcctcttcttcaTCG	0.418000											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	197					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44146519	44146519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:44146519C>G	ENST00000395673.3	+	5	1079	c.1023C>G	c.(1021-1023)taC>taG	p.Y341*	EXT2_ENST00000343631.3_Nonsense_Mutation_p.Y308*|EXT2_ENST00000358681.4_Nonsense_Mutation_p.Y308*|EXT2_ENST00000533608.1_Nonsense_Mutation_p.Y308*	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	308					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCTTCGATTACCCACAGGTGC	0.488000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				17	38					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88937354	88937354	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:88937354C>A	ENST00000277141.6	-	15	3205	c.781G>T	c.(781-783)Ggt>Tgt	p.G261C	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G972C|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.G972C|ZCCHC6_ENST00000375960.2_Intron			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	972					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTTAGATGACCCTCTCGTTTG	0.408000													15	36					3.41278e-10	3.74209e-10	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56243996	56243996	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:56243996C>G	ENST00000332836.2	-	2	1228	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	401	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAATTCCCTCTGCAGCCAAA	0.458000													20	143					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74690368	74690368	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:74690368C>T	ENST00000334011.5	+	8	1658	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	480	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGGTCCCTGTCTTCAAGTTTG	0.438000													60	131					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113073	59113073	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr14:59113073G>A	ENST00000395153.3	+	4	1768	c.1621G>A	c.(1621-1623)Gtc>Atc	p.V541I	DACT1_ENST00000556859.1_Missense_Mutation_p.V297I|DACT1_ENST00000541264.2_Missense_Mutation_p.V297I|DACT1_ENST00000335867.4_Missense_Mutation_p.V578I	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	578					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.V578I(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GAACATGGGCGTCGTGAAGAA	0.657000													7	19					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145057980	145057980	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:145057980C>T	ENST00000313028.7	-	8	1872		c.e8-1		PARP10_ENST00000524918.1_Splice_Site|PARP10_ENST00000525773.1_Splice_Site	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10							Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGACCTCCTCTGGGGGCAGG	0.632000													9	35					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:158650498C>G	ENST00000368147.4	-	5	733	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448000													33	58					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719695	111719695	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:111719695C>T	ENST00000393917.2	+	3	809	c.257C>T	c.(256-258)gCt>gTt	p.A86V	TAGLN3_ENST00000486460.1_Missense_Mutation_p.A2V|TAGLN3_ENST00000273368.4_Missense_Mutation_p.A86V|TAGLN3_ENST00000478951.1_Missense_Mutation_p.A86V|TAGLN3_ENST00000455401.2_Missense_Mutation_p.A86V	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	86	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TCAAAGATGGCTTTTAAGCAG	0.488000													60	225					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108972969	108972969	+	Silent	SNP	A	A	G	rs113070894		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:108972969A>G	ENST00000276659.5	-	4	980	c.360T>C	c.(358-360)caT>caC	p.H120H	RSPO2_ENST00000517781.1_Silent_p.H57H|RSPO2_ENST00000378439.2_Silent_p.H57H|RSPO2_ENST00000517939.1_Silent_p.H53H	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	120					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AACGGCCTCTATGCAAATAAA	0.358000													30	46					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248023982	248023982	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:248023982G>A	ENST00000366481.3	+	2	532	c.484G>A	c.(484-486)Gcc>Acc	p.A162T		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	162						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GACTCAGGAGGCCAACGTGGG	0.483000													9	47					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66948291	66948291	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:66948291A>G	ENST00000299752.4	-	7	801	c.608T>C	c.(607-609)cTg>cCg	p.L203P	CDH16_ENST00000565796.1_Missense_Mutation_p.L203P|CDH16_ENST00000570262.1_Missense_Mutation_p.L123P|CDH16_ENST00000394055.3_Missense_Mutation_p.L203P|CDH16_ENST00000568632.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTCCTCTCCAGGGCGTGGTC	0.607000													25	7					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278206	134278206	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:134278206A>G	ENST00000337090.3	+	14	2061	c.1888A>G	c.(1888-1890)Aat>Gat	p.N630D	CEP63_ENST00000606977.1_Missense_Mutation_p.N630D|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.N630D			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	630					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTAGATACAAATGAAGCCAA	0.403000													21	60					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	53					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492471	71492471	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:71492471G>A	ENST00000296755.7	+	5	3587	c.3289G>A	c.(3289-3291)Gag>Aag	p.E1097K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1097						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCAGAGAGCGAGGCCACCGC	0.522000													8	14					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119752005	119752005	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:119752005C>T	ENST00000541757.1	+	18	1618	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	MARCO_ENST00000327097.4_Missense_Mutation_p.T491M			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	491	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGTCGGGGCACGGAGAGTACC	0.552000													17	60					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112541911	112541911	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:112541911G>T	ENST00000341068.3	-	41	5756	c.4984C>A	c.(4984-4986)Ctt>Att	p.L1662I		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1662					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGCTTTAAAAGATGGAGTTCT	0.438000													21	148					3.80469e-20	4.40358e-20	1	1	0
DCAF6	55827	broad.mit.edu	37	1	167992243	167992243	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:167992243G>C	ENST00000367840.3	+	12	1661	c.1567G>C	c.(1567-1569)Gtt>Ctt	p.V523L	DCAF6_ENST00000367843.3_Missense_Mutation_p.V466L|DCAF6_ENST00000432587.2_Missense_Mutation_p.V492L|DCAF6_ENST00000312263.6_Intron	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	506					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTCTTCTGTGGTTAACAAACA	0.418000													6	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404371	179404371	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:179404371G>A	ENST00000589042.1	-	352	98645	c.98421C>T	c.(98419-98421)gaC>gaT	p.D32807D	TTN_ENST00000359218.5_Silent_p.D23867D|TTN_ENST00000460472.2_Silent_p.D23742D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.D30239D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.D23934D|TTN_ENST00000591111.1_Silent_p.D31166D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31166	Ig-like 145.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTTGGATGTCATCATATT	0.507000													38	56					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99468111	99468111	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:99468111C>G	ENST00000523601.1	-	13	1918	c.1519G>C	c.(1519-1521)Gat>Cat	p.D507H	STK3_ENST00000419617.2_Missense_Mutation_p.D479H	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	479					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCATCGCATCCAGAATGGGC	0.423000													20	25					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580998	40580998	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:40580998C>T	ENST00000450241.2	-	6	1560	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E452K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E452K|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E451K|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E451K			O75290	Z780A_HUMAN	zinc finger protein 780A	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGCCATCTCACATTCCCTA	0.403000													44	167					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147869367	147869367	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:147869367G>A	ENST00000361727.3	+	18	3323	c.2807G>A	c.(2806-2808)tGc>tAc	p.C936Y	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	936	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCTGGGCTGCATCCGCTCC	0.532000										HNSCC(39;0.1)			9	65					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81173269	81173269	+	RNA	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:81173269G>A	ENST00000525539.1	-	0	5465				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCCACCAGGATGCACCACC	0.647000													5	2					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97862830	97862830	+	Silent	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:97862830C>G	ENST00000447648.2	-	11	1874	c.1575G>C	c.(1573-1575)ccG>ccC	p.P525P	TECPR1_ENST00000379795.3_Silent_p.P525P|TECPR1_ENST00000542604.1_Silent_p.P455P			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	525						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCACCCCATACGGCTCCTCCA	0.667000													5	12					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120592	12120592	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:12120592C>T	ENST00000379388.2	+	4	896	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	188					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACTACGTCCCCCTCCTATA	0.448000													31	45					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			51	20					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159254	118159254	+	Missense_Mutation	SNP	C	C	A	rs148043363	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:118159254C>A	ENST00000456015.2	+	2	133	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	SLC30A8_ENST00000521243.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000519688.1_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	45					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACCAGAGGAGCTGGAGTCAGG	0.502000													43	95					4.16155e-14	4.68642e-14	1	1	0
FAM170A	340069	broad.mit.edu	37	5	118969677	118969677	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:118969677C>A	ENST00000515256.1	+	3	406	c.234C>A	c.(232-234)gaC>gaA	p.D78E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	78						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TACATCGAGACAGCCCCCAGC	0.502000													7	35					0.00198382	0.00201608	1	1	0
CAMK4	814	broad.mit.edu	37	5	110784840	110784840	+	Silent	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:110784840C>G	ENST00000282356.4	+	7	962	c.564C>G	c.(562-564)ctC>ctG	p.L188L	CAMK4_ENST00000512453.1_Silent_p.L188L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	188	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTTTGGACTCTCTAAAATTG	0.299000													9	29					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97922840	97922840	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:97922840A>G	ENST00000005260.8	-	14	1744	c.1529T>C	c.(1528-1530)aTt>aCt	p.I510T		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	510	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTCATCGAATGATGGGTGC	0.567000													153	90					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	571550	571550	+	Translation_Start_Site	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:571550G>A	ENST00000346916.4	+	1	254	c.3G>A	c.(1-3)atG>atA	p.M1I	AC009005.2_ENST00000590292.1_RNA|AC009005.2_ENST00000588290.1_RNA|BSG_ENST00000545507.2_5'UTR|AC009005.2_ENST00000589457.1_RNA|AC009005.2_ENST00000588908.1_RNA	NM_198591.2	NP_940993.1	P35613	BASI_HUMAN	basigin	0					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cccccacaatgaagcagtcgg	0.617000													17	46					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													6	25					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90262309	90262309	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:90262309G>T	ENST00000469640.2	+	14	1695	c.1320G>T	c.(1318-1320)gtG>gtT	p.V440V	DAPK1_ENST00000472284.1_Silent_p.V440V|DAPK1_ENST00000358077.5_Silent_p.V440V|DAPK1_ENST00000491893.1_Silent_p.V440V|DAPK1_ENST00000408954.3_Silent_p.V440V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	440					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTTTGGATGTGAAAGACAAGG	0.522000									Chronic Lymphocytic Leukemia, Familial Clustering of				15	47					6.94344e-10	7.48216e-10	1	1	0
KIFAP3	22920	broad.mit.edu	37	1	169923248	169923248	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:169923248C>T	ENST00000367765.1	-	19	3558	c.2057G>A	c.(2056-2058)gGa>gAa	p.G686E	KIFAP3_ENST00000540905.1_Missense_Mutation_p.G428E|KIFAP3_ENST00000361580.2_Missense_Mutation_p.G726E|KIFAP3_ENST00000538366.1_Missense_Mutation_p.G648E|KIFAP3_ENST00000367767.1_Missense_Mutation_p.G682E	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	726					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCAATTAATCCATCTAGAAA	0.343000													30	96					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12475606	12475606	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:12475606C>T	ENST00000397026.2	+	9	1797	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y	PPARG_ENST00000397010.2_Missense_Mutation_p.H466Y|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000287820.6_Missense_Mutation_p.H494Y|PPARG_ENST00000397015.2_Missense_Mutation_p.H466Y|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.H466Y|PPARG_ENST00000397012.2_Missense_Mutation_p.H466Y			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	494	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CATGAGTCTTCACCCGCTCCT	0.502000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						29	16					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33091032	33091032	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr15:33091032C>T	ENST00000334528.9	-	15	3433	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	FMN1_ENST00000561249.1_Missense_Mutation_p.R1270Q|FMN1_ENST00000559047.1_Missense_Mutation_p.R1368Q	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1368	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTACTCTCCCGTTTCCAAAT	0.408000													11	14					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887480	196887480	+	Missense_Mutation	SNP	C	C	G	rs80010185	by1000genomes	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:196887480C>G	ENST00000367416.2	+	10	1815	c.1678C>G	c.(1678-1680)Cta>Gta	p.L560V	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.L314V|CFHR4_ENST00000367418.2_Missense_Mutation_p.L314V|CFHR4_ENST00000608469.1_Missense_Mutation_p.L184V	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TACATCAGTTCTATCATTTCA	0.363000													33	241					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449851	149449851	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:149449851T>G	ENST00000286301.3	-	9	1504	c.1213A>C	c.(1213-1215)Agc>Cgc	p.S405R		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	405	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATATGACGCTTACCTCTGGG	0.597000													32	21					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300098	35300098	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:35300098G>A	ENST00000254457.5	+	5	2302	c.891G>A	c.(889-891)ccG>ccA	p.P297P	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	297					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACTTCTTCCCGCAAGGCCCCC	0.731000													6	5					0	0	1	0	0
C19orf48	84798	broad.mit.edu	37	19	51301486	51301486	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:51301486C>T	ENST00000598463.1	-	5	1318	c.220G>A	c.(220-222)Gac>Aac	p.D74N	C19orf48_ENST00000345523.4_Missense_Mutation_p.D74N|C19orf48_ENST00000596655.1_Missense_Mutation_p.D74N|C19orf48_ENST00000391812.1_Missense_Mutation_p.D74N			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	74										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TAGGCCTGGTCACAATAGGGA	0.632000													23	129					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207677	58207677	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr13:58207677G>T	ENST00000377918.3	+	1	1023	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	333	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTATCCCAGCCCACTGCAA	0.627000													21	51					1.64293e-13	1.8174e-13	1	1	0
PRKG2	5593	broad.mit.edu	37	4	82058586	82058586	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:82058586G>T	ENST00000395578.1	-	13	1711	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D	PRKG2_ENST00000418486.2_Missense_Mutation_p.A503D|PRKG2_ENST00000545647.1_Missense_Mutation_p.A112D|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.A532D			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	532	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTAAGCAGGCCTCCAGAAG	0.338000													23	64					4.59853e-10	4.9984e-10	1	1	0
SLC25A40	55972	broad.mit.edu	37	7	87476434	87476434	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:87476434C>A	ENST00000341119.5	-	8	807	c.461G>T	c.(460-462)gGt>gTt	p.G154V		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	154					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AGTTACTGCACCAACTAATAC	0.303000													116	108					5.1993e-48	6.13124e-48	1	1	0
GRID2	2895	broad.mit.edu	37	4	94344056	94344056	+	Silent	SNP	C	C	T	rs78407646	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:94344056C>T	ENST00000282020.4	+	10	1740	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	GRID2_ENST00000510992.1_Silent_p.H399H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	494					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CACCGGATCACAAATACGGAA	0.398000													19	39					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877711	76877711	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:76877711G>A	ENST00000328299.3	+	3	380	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	78					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACTGGACTGTGACCTTTGTGC	0.413000													47	49					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291375	33291375	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr14:33291375C>T	ENST00000280979.4	+	13	4526	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1452					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATACCCCTGACTGTTTGGGAG	0.363000													24	19					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909178	52909178	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:52909178G>A	ENST00000391788.2	+	5	527	c.4G>A	c.(4-6)Gat>Aat	p.D2N	ZNF528_ENST00000594530.1_Missense_Mutation_p.D12N|ZNF528_ENST00000360465.3_Missense_Mutation_p.D12N|ZNF528_ENST00000598192.1_Missense_Mutation_p.D12N			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458000													39	234					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133729585	133729585	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:133729585T>G	ENST00000318560.5	+	2	595	c.214T>G	c.(214-216)Ttt>Gtt	p.F72V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	72	SH3.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	ACTGTATGATTTTGTGGCCAG	0.488000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								4	89					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942185	52942185	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:52942185A>G	ENST00000332323.6	+	4	1572	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E491G|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CATACTGGAGAGAAGCTTTAC	0.398000													5	28					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19951164	19951164	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:19951164C>T	ENST00000361682.6	+	4	747	c.365C>T	c.(364-366)tCa>tTa	p.S122L	COMT_ENST00000493893.1_3'UTR|COMT_ENST00000403710.1_Missense_Mutation_p.S122L|COMT_ENST00000406520.3_Missense_Mutation_p.S122L|COMT_ENST00000403184.1_Missense_Mutation_p.S122L|COMT_ENST00000407537.1_Missense_Mutation_p.S72L|COMT_ENST00000449653.1_Missense_Mutation_p.S72L	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	122					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	TGTGGCTACTCAGCTGTGCGC	0.647000													33	38					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20859006	20859006	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:20859006T>C	ENST00000381552.1	+	4	763	c.395T>C	c.(394-396)tTc>tCc	p.F132S	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F14S|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.F132S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F132S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.F132S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	132					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCTCAGTTCTTCATGGAGCAG	0.388000													53	76					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28302365	28302365	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr21:28302365C>T	ENST00000284987.5	-	7	2186	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	689	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCCTACATTCAGTGCCATCG	0.478000													38	102					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188871	98188871	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:98188871G>T	ENST00000332650.5	+	1	548	c.451G>T	c.(451-453)Gct>Tct	p.A151S		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCTTCATAGCTGGAAACCT	0.443000													39	76					4.14481e-20	4.75322e-20	1	1	0
EXOC4	60412	broad.mit.edu	37	7	133314839	133314839	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:133314839T>C	ENST00000253861.4	+	10	1488	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	EXOC4_ENST00000539845.1_Missense_Mutation_p.F386L|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.F97L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	487					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGGAACAAAATTTGTCTGCAA	0.343000													104	61					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415660	30415660	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:30415660G>A	ENST00000333027.3	+	17	2340	c.2012G>A	c.(2011-2013)aGa>aAa	p.R671K	CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.R535K|MTMR3_ENST00000401950.2_Missense_Mutation_p.R671K|MTMR3_ENST00000406629.1_Missense_Mutation_p.R671K|MTMR3_ENST00000351488.3_Missense_Mutation_p.R671K	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	671					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGCCCACCAGAGTGCCGGGG	0.622000													53	38					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444932	150444932	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:150444932C>T	ENST00000401000.4	+	10	3495	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1170W			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1170							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATACAAGGAACGGGCACCTCA	0.532000													15	60					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	2					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64029989	64029989	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:64029989G>A	ENST00000540288.1	+	18	2252	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	PLCB3_ENST00000279230.6_Missense_Mutation_p.E717K|PLCB3_ENST00000325234.5_Missense_Mutation_p.E650K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	717	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCTTCACTGAGGTCATCGT	0.647000													17	35					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4133898	4133898	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:4133898C>T	ENST00000465828.1	-	2	293	c.8G>A	c.(7-9)aGa>aAa	p.R3K	ECI2_ENST00000380125.2_Missense_Mutation_p.R3K|ECI2_ENST00000380118.3_Missense_Mutation_p.R33K|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Missense_Mutation_p.R3K			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	33					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CATTGCTGTTCTATTCATGTG	0.413000													48	32					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640936	32640936	+	Silent	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:32640936C>G	ENST00000421745.2	+	10	2711	c.2577C>G	c.(2575-2577)ctC>ctG	p.L859L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	859					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTACCTCGCTCATTTTGCTTC	0.388000													22	26					0	0	1	0	0
UPK3B	80761	broad.mit.edu	37	7	76140331	76140331	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:76140331C>T	ENST00000419923.2	+	1	587	c.362C>T	c.(361-363)gCc>gTc	p.A121V	UPK3B_ENST00000257632.5_Missense_Mutation_p.A121V|UPK3B_ENST00000334348.3_Missense_Mutation_p.A66V|UPK3B_ENST00000448265.3_Missense_Mutation_p.A121V|UPK3B_ENST00000394849.1_Missense_Mutation_p.A66V|UPK3B_ENST00000443097.2_Missense_Mutation_p.A66V			Q9BT76	UPK3B_HUMAN	uroplakin 3B	121					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CTTGCCAGCGCCAGCGATACC	0.632000													5	19					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918666	196918666	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:196918666C>T	ENST00000367415.5	+	2	240	c.140C>T	c.(139-141)aCa>aTa	p.T47I	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Missense_Mutation_p.T47I|CFHR2_ENST00000367421.3_Missense_Mutation_p.T47I	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CAAGTTCCTACAGGGGAAGTT	0.358000													11	70					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21365524	21365524	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:21365524G>C	ENST00000311048.7	+	5	562	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATGTGAACATGAGAATTTACA	0.368000													12	34					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22412401	22412401	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:22412401C>T	ENST00000240123.7	+	3	511	c.128C>T	c.(127-129)tCc>tTc	p.S43F	SORBS3_ENST00000523402.1_Missense_Mutation_p.S43F	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	43					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AATGGTGGCTCCAACACCCTT	0.657000													39	57					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154320946	154320946	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:154320946G>A	ENST00000368489.3	+	27	3325	c.3325G>A	c.(3325-3327)Gtc>Atc	p.V1109I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1095					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCACAGTCGTCTGCATCAT	0.607000													11	31					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769638	37769638	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:37769638T>A	ENST00000402918.2	-	3	2722	c.1937A>T	c.(1936-1938)gAc>gTc	p.D646V	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTCGGGCACGTCCAGGCTAAA	0.672000													5	10					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164697153	164697153	+	Silent	SNP	T	T	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:164697153T>A	ENST00000264382.3	-	48	5543	c.5481A>T	c.(5479-5481)tcA>tcT	p.S1827S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1827	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTGATCTTCATGACCAGTTGA	0.318000										HNSCC(35;0.089)			28	117					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563950	8563950	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:8563950C>T	ENST00000423345.4	-	2	1262	c.742G>A	c.(742-744)Gag>Aag	p.E248K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E248K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	296	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGAGCGGCCTCGCTGAACTCA	0.632000													12	20					0	0	1	0	0
AC018890.6	0	broad.mit.edu	37	2	175584493	175584494	+	RNA	INS	-	-	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:175584493_175584494insT	ENST00000442996.1	+	0	217																											GTTGCTTCTGATTTTTTTTTTT	0.535											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2	---	---	---	---					
LINC00504	201853	broad.mit.edu	37	4	14514247	14514247	+	RNA	DEL	G	G	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:14514247delG	ENST00000505089.2	-	0	461																											gccggccatcggaagttgaca	0.478													2	4	---	---	---	---					
CTC-431G16.2	0	broad.mit.edu	37	5	79107143	79107143	+	RNA	DEL	G	G	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:79107143delG	ENST00000421252.2	-	0	71																											AGATATCTGTGGGGGTGACTG	0.562													2	4	---	---	---	---					
LRRC16A	55604	broad.mit.edu	37	6	25551263	25551264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:25551263_25551264insA	ENST00000329474.6	+	27	2822_2823	c.2454_2455insA	c.(2455-2457)aaafs	p.K819fs		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	819					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTTTGTTAAAAATGTCCT	0.381													40	99	---	---	---	---					
BCLAF1	9774	broad.mit.edu	37	6	136582545	136582545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:136582545delC	ENST00000531224.1	-	12	2867	c.2615delG	c.(2614-2616)ggcfs	p.G872fs	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.G821fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.G821fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.G870fs|BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.G90fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.G823fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.G699fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	872					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCGCCCTCTGCCACGTTGAAA	0.428													81	282	---	---	---	---					
ANGPTL5	253935	broad.mit.edu	37	11	101762080	101762080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:101762080delT	ENST00000334289.3	-	9	1692	c.1097delA	c.(1096-1098)aacfs	p.N367fs		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	367	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AGGTGAGTTGTTTTTGGTCCA	0.348													7	1293	---	---	---	---					
MMP20	9313	broad.mit.edu	37	11	102487558	102487558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:102487558delT	ENST00000260228.2	-	2	371	c.359delA	c.(358-360)aatfs	p.N120fs	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	120					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TGTCAAAGTATTTTTTTTCCA	0.398													8	296	---	---	---	---					
MMP1	4312	broad.mit.edu	37	11	102668791	102668793	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:102668791_102668793delCAG	ENST00000315274.6	-	1	98_100	c.31_33delCTG	c.(31-33)ctgdel	p.L11del	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	11					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CACCCCAGAACAGCAGCAGCAGC	0.498													8	339	---	---	---	---					
SSH1	54434	broad.mit.edu	37	12	109194663	109194664	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:109194663_109194664delAT	ENST00000326495.5	-	12	1133_1134	c.1040_1041delAT	c.(1039-1041)aatfs	p.N347fs	SSH1_ENST00000360239.3_Frame_Shift_Del_p.N35fs|SSH1_ENST00000551165.1_Frame_Shift_Del_p.N347fs|SSH1_ENST00000326470.5_Frame_Shift_Del_p.N358fs	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	347	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGAAAAAAATTATCGATTTC	0.351													36	98	---	---	---	---