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
ROBO1	6091	broad.mit.edu	37	3	78711146	78711146	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:78711146C>G	ENST00000436010.2	-	13	2965	c.1968G>C	c.(1966-1968)tgG>tgC	p.W656C	ROBO1_ENST00000467549.1_Missense_Mutation_p.W659C|ROBO1_ENST00000464233.1_Missense_Mutation_p.W695C|ROBO1_ENST00000495273.1_Missense_Mutation_p.W659C			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	695					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AACTCACTGTCCAGTGCACTT	0.453000													4	10					0	0	0.000248	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820226	50820226	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:50820226C>T	ENST00000374115.3	+	1	1880	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	480					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCCCGTTCCGAGCGCGATG	0.657000													13	53					0	0	0.001855	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405210	139405210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:139405210G>A	ENST00000277541.6	-	17	2710	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	879	EGF-like 23; calcium-binding (Potential).		R -> W (in dbSNP:rs11574895).		aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCCGTGCCGGCACGGGCTC	0.701000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	43					0	0	0.001855	0	0
PPFIA3	8541	broad.mit.edu	37	19	49640003	49640003	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:49640003C>T	ENST00000334186.4	+	15	2037	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A563V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	563			A -> S (in dbSNP:rs2303053).			cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCTGCCCCTGCGGGCTCCATA	0.652000													6	8					0	0	0.001168	0	0
OR14C36	127066	broad.mit.edu	37	1	248513012	248513012	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:248513012G>A	ENST00000317861.1	+	1	936	c.936G>A	c.(934-936)gtG>gtA	p.V312V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGAAAATGTGTAAGAAACCC	0.333000													17	73					0	0	0.004990	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488000													52	274					0	0	0.003610	0	0
PCDH19	57526	broad.mit.edu	37	X	99662705	99662705	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:99662705C>A	ENST00000373034.4	-	1	2566	c.891G>T	c.(889-891)ctG>ctT	p.L297L	PCDH19_ENST00000255531.7_Silent_p.L297L|PCDH19_ENST00000420881.2_Silent_p.L297L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	297	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGACAGTGACCAGGCCACTGT	0.597000													43	44					9.39024e-22	1.48799e-21	0.002222	1	0
TTN	7273	broad.mit.edu	37	2	179599567	179599567	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:179599567G>A	ENST00000589042.1	-	51	15308	c.15084C>T	c.(15082-15084)gtC>gtT	p.V5028V	TTN_ENST00000591111.1_Silent_p.V4711V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V3784V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4711	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACATTCGGACTGTGTTAC	0.418000													9	74					0	0	0.006214	0	0
RASA1	5921	broad.mit.edu	37	5	86659245	86659245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:86659245C>T	ENST00000456692.2	+	11	1118	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	RASA1_ENST00000274376.6_Nonsense_Mutation_p.R512*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.R346*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.R345*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	512	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCGAAAAACGAGCTACCAA	0.328000													18	31					0	0	0.007413	0	0
OXER1	165140	broad.mit.edu	37	2	42991037	42991037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:42991037G>C	ENST00000378661.2	-	1	364	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	95					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						ATTGGTGCCAGGAAGGCAGAC	0.637000													8	52					0	0	0.003080	0	0
KIF1B	23095	broad.mit.edu	37	1	10364155	10364155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:10364155C>G	ENST00000377093.4	+	21	3065	c.2912C>G	c.(2911-2913)tCt>tGt	p.S971C	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S971C|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACAGAAACTCTTGGAGTCCT	0.463000													29	104					0	0	0.007291	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900702	22900702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:22900702C>T	ENST00000276431.4	-	2	483	c.199G>A	c.(199-201)Gcg>Acg	p.A67T	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.A67T|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	67			A -> V (in dbSNP:rs1047266).		activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGTGGGGCCGCTCTCTGCTGG	0.572000													5	38					0	0	0.000602	0	0
HECW2	57520	broad.mit.edu	37	2	197184307	197184307	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:197184307C>A	ENST00000260983.2	-	9	1489	c.1307G>T	c.(1306-1308)tGc>tTc	p.C436F	HECW2_ENST00000409111.1_Missense_Mutation_p.C80F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	436					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCTCAGAGCAGGTCGCTGT	0.498000													25	41					5.45024e-15	8.37873e-15	0.003330	1	0
MIR506	574511	broad.mit.edu	37	X	146312270	146312270	+	RNA	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:146312270C>A	ENST00000384998.1	-	0	91					NR_030233.1																						TTGCACATTACTCTACTCAGA	0.433000													45	26					2.215e-12	3.30645e-12	0.002852	1	0
THSD7B	80731	broad.mit.edu	37	2	138208533	138208533	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:138208533G>T	ENST00000409968.1	+	15	3256	c.3078G>T	c.(3076-3078)tgG>tgT	p.W1026C	THSD7B_ENST00000413152.2_Missense_Mutation_p.W995C|THSD7B_ENST00000272643.3_Missense_Mutation_p.W1026C|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCAAATGGCTAAAAGAAA	0.413000													7	33					2.0095e-06	2.65357e-06	0.001984	1	0
ACTL7B	10880	broad.mit.edu	37	9	111617576	111617576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:111617576C>G	ENST00000374667.3	-	1	1663	c.635G>C	c.(634-636)gGc>gCc	p.G212A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	212						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCACGTCGCCCTCGGATAT	0.662000													6	38					0	0	0.003080	0	0
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:72968754G>A	ENST00000264839.7	+	18	2993	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	RIMS1_ENST00000491071.2_Missense_Mutation_p.R998Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R471Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R457Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R997Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R472Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R391Q			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R998Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353000													13	85					0	0	0.001368	0	0
RHO	6010	broad.mit.edu	37	3	129247885	129247885	+	Silent	SNP	C	C	T	rs149615742	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:129247885C>T	ENST00000296271.3	+	1	403	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	103					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGATACTTCGTCTTCGGGC	0.602000													21	148					0	0	0.001523	0	0
GRM1	2911	broad.mit.edu	37	6	146755794	146755794	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:146755794G>A	ENST00000361719.2	+	9	3917	c.3447G>A	c.(3445-3447)tcG>tcA	p.S1149S	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Silent_p.S1149S|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1149	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGCCTCCGTCGCCTTTCCGCG	0.652000													21	77					0	0	0.001882	0	0
FAM83C	128876	broad.mit.edu	37	20	33876323	33876323	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:33876323C>T	ENST00000374408.3	-	3	843	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	249										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAGGGCCTGCCCCGTGAAGC	0.622000													19	463					0	0	0.001523	0	0
TET1	80312	broad.mit.edu	37	10	70451332	70451332	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:70451332C>A	ENST00000373644.4	+	12	6381	c.6172C>A	c.(6172-6174)Caa>Aaa	p.Q2058K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2058					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAATAAGCCCCAACATGGTTT	0.453000													14	56					7.93312e-07	1.07515e-06	0.002450	1	0
FAT1	2195	broad.mit.edu	37	4	187521088	187521088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:187521088G>A	ENST00000441802.2	-	22	12276	c.12067C>T	c.(12067-12069)Cag>Tag	p.Q4023*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4023	EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTCCATTCTGGCAAGGGTTG	0.537000										HNSCC(5;0.00058)			9	59					0	0	0.004482	0	0
SBSN	374897	broad.mit.edu	37	19	36017775	36017775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:36017775C>T	ENST00000452271.2	-	1	1437	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	SBSN_ENST00000518157.1_Missense_Mutation_p.G127E	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	127						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCGGCCTGTTC	0.597000													7	20					0	0	0.003080	0	0
AIPL1	23746	broad.mit.edu	37	17	6330371	6330371	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:6330371C>T	ENST00000381129.3	-	4	552	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000570466.1_Missense_Mutation_p.A136T|AIPL1_ENST00000250087.5_Missense_Mutation_p.A95T|AIPL1_ENST00000576776.1_Missense_Mutation_p.A158T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A98T|AIPL1_ENST00000575265.1_Missense_Mutation_p.A158T|AIPL1_ENST00000574506.1_Missense_Mutation_p.A146T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	158					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCACTCGGGGCATCAACCTGG	0.602000													21	82					0	0	0.001882	0	0
HPD	3242	broad.mit.edu	37	12	122294232	122294232	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:122294232G>T	ENST00000543163.1	-	7	650	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	HPD_ENST00000289004.4_Missense_Mutation_p.Q108K|RP11-7M8.2_ENST00000543848.1_RNA	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	108					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTTCTTACCTGCACGATGTAG	0.582000													21	54					3.5997e-14	5.45249e-14	0.002299	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651241	1651241	+	Silent	SNP	A	A	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:1651241A>C	ENST00000399676.2	+	1	209	c.171A>C	c.(169-171)ggA>ggC	p.G57G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	57						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggatgtggctccg	0.682000													5	178					0	0	0.000673	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839920	27839920	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:27839920C>T	ENST00000328488.2	-	1	179	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	58					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCTCGGTCGACTTCTGGT	0.652000													21	134					0	0	0.003330	0	0
POLR2A	5430	broad.mit.edu	37	17	7414779	7414779	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7414779G>C	ENST00000322644.6	+	24	4372	c.3973G>C	c.(3973-3975)Gat>Cat	p.D1325H		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1325					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.I1322_W1334del(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCACGGAGGATGGGGAATT	0.582000													4	34					0	0	0.000248	0	0
FAM155B	27112	broad.mit.edu	37	X	68725656	68725656	+	Silent	SNP	C	C	A	rs142803076	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:68725656C>A	ENST00000252338.4	+	1	573	c.531C>A	c.(529-531)gcC>gcA	p.A177A		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	177						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GTGCCCCGGCCGAGTTCCCCT	0.577000													19	40					0.006122	0.00768984	0.006122	1	0
SFI1	9814	broad.mit.edu	37	22	32003955	32003955	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr22:32003955G>C	ENST00000432498.1	+	21	2490	c.2097G>C	c.(2095-2097)gtG>gtC	p.V699V	SFI1_ENST00000443326.1_Silent_p.V648V|SFI1_ENST00000443011.1_Silent_p.V577V|SFI1_ENST00000540643.1_Silent_p.V675V|SFI1_ENST00000400288.2_Silent_p.V730V|SFI1_ENST00000400289.1_Silent_p.V648V|SFI1_ENST00000414585.1_Silent_p.V577V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	730					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGTGTCAGTGCAGATGTATT	0.592000													7	47					0	0	0.001984	0	0
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423000													32	69					0	0	0.002836	0	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328000													3	45					0	0	0.000248	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:110015235C>T	ENST00000309415.6	+	4	1135	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CACCAAGAAACGCCACTCCTT	0.597000													3	21					0	0	0.000248	0	0
SERPINB8	5271	broad.mit.edu	37	18	61649018	61649018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:61649018G>C	ENST00000397985.2	+	4	626	c.370G>C	c.(370-372)Gac>Cac	p.D124H	SERPINB8_ENST00000353706.2_Missense_Mutation_p.D124H|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D124H|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	124					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTGCTGAAGACACTGAAGA	0.413000													42	71					0	0	0.001951	0	0
LHX1	3975	broad.mit.edu	37	17	35299527	35299527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:35299527C>T	ENST00000254457.5	+	4	2117	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	236					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)				CTCCAAGGAGCGGAGGATGAA	0.741000													4	28					0	0	0.000602	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768679	140768679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:140768679C>T	ENST00000519479.1	+	1	1228	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTAGACCGCGAGCAGAA	0.438000													23	98					0	0	0.005443	0	0
CHL1	10752	broad.mit.edu	37	3	447203	447203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:447203G>T	ENST00000256509.2	+	28	4126	c.3484G>T	c.(3484-3486)Gga>Tga	p.G1162*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.G1146*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1146					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCTCTCAAAGGAAGCCTTCG	0.398000													7	31					2.7689e-08	3.80262e-08	0.001984	1	0
CPAMD8	27151	broad.mit.edu	37	19	17056415	17056415	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:17056415C>T	ENST00000443236.1	-	22	2909	c.2878G>A	c.(2878-2880)Gcc>Acc	p.A960T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	913						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCCTGTCGGCGTGATTCTCC	0.567000													19	92					0	0	0.007413	0	0
LRRK2	120892	broad.mit.edu	37	12	40716168	40716168	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:40716168G>C	ENST00000298910.7	+	37	5423	c.5365G>C	c.(5365-5367)Gaa>Caa	p.E1789Q		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1789					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCTCTCATGGAAGAATGGTT	0.403000													30	171					0	0	0.002445	0	0
CGNL1	84952	broad.mit.edu	37	15	57732649	57732649	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:57732649C>T	ENST00000281282.5	+	3	1755	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	559						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAGATTCTCTACAATTACC	0.443000													5	4					0	0	0.000602	0	0
ZMYND11	10771	broad.mit.edu	37	10	294467	294467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:294467G>C	ENST00000309776.4	+	13	1847	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	ZMYND11_ENST00000397959.3_Missense_Mutation_p.K388N|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K473N|ZMYND11_ENST00000545619.1_Missense_Mutation_p.K353N|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K393N|ZMYND11_ENST00000381607.4_Missense_Mutation_p.K379N|ZMYND11_ENST00000381604.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000397962.3_Missense_Mutation_p.K473N|ZMYND11_ENST00000509513.2_Missense_Mutation_p.K472N|ZMYND11_ENST00000381602.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000535374.1_Missense_Mutation_p.K268N|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K473N|ZMYND11_ENST00000381584.1_Missense_Mutation_p.K456N|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.K442N|ZMYND11_ENST00000602682.1_Missense_Mutation_p.K388N	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	433	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATACACCAAGATCTTCAATG	0.512000													16	67					0	0	0.004007	0	0
HCN4	10021	broad.mit.edu	37	15	73635796	73635796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:73635796G>A	ENST00000261917.3	-	2	2132	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	380					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGATCTTCGTGAAGCGGAC	0.552000													7	41					0	0	0.001984	0	0
RFX2	5990	broad.mit.edu	37	19	6040054	6040054	+	Silent	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:6040054G>T	ENST00000303657.5	-	5	608	c.459C>A	c.(457-459)atC>atA	p.I153I	RFX2_ENST00000359161.3_Silent_p.I153I|RFX2_ENST00000592546.1_Silent_p.I153I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCCCCCGTGGATGAGATAGG	0.677000													3	21					0.004672	0.00594094	0.004672	1	0
SCN10A	6336	broad.mit.edu	37	3	38739945	38739945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:38739945G>A	ENST00000449082.2	-	27	4765	c.4766C>T	c.(4765-4767)gCg>gTg	p.A1589V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1589					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCCTTGGCCGCTCGGATCAG	0.522000													17	67					0	0	0.004007	0	0
KRT83	3889	broad.mit.edu	37	12	52714887	52714887	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:52714887G>T	ENST00000293670.3	-	1	295	c.233C>A	c.(232-234)cCc>cAc	p.P78H		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	78	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGGGGCTGGGTCCGCACAC	0.701000													48	116					4.64027e-19	7.24163e-19	0.003610	1	0
SEMA4F	10505	broad.mit.edu	37	2	74883756	74883756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:74883756G>A	ENST00000357877.2	+	2	390	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A81T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	81	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTATGTTGGCGCCCGGGACAC	0.577000													23	107					0	0	0.002780	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655170	38655170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:38655170G>A	ENST00000222345.6	+	15	4341	c.3832G>A	c.(3832-3834)Gca>Aca	p.A1278T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1278					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCAGCAACGCATCCAGCAG	0.617000													26	56					0	0	0.005443	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911039	230911039	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:230911039G>T	ENST00000295190.4	-	4	1261	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	268						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCCTGATCGGGGCACTCCTG	0.577000													27	129					1.26454e-06	1.69153e-06	0.005443	1	0
BPIFB2	80341	broad.mit.edu	37	20	31606143	31606143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:31606143C>A	ENST00000170150.3	+	8	851	c.656C>A	c.(655-657)tCc>tAc	p.S219Y		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	219						extracellular region	lipid binding										GACTACATTTCCCTGGAAGTC	0.567000													28	176					7.38237e-10	1.02755e-09	0.006320	1	0
LRRN3	54674	broad.mit.edu	37	7	110763263	110763263	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:110763263C>A	ENST00000451085.1	+	4	1481	c.435C>A	c.(433-435)ctC>ctA	p.L145L	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Silent_p.L145L|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L145L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	145						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACAAGAACTCTATATTAATC	0.373000													5	49					0.00116845	0.00150437	0.001168	1	0
NAV2	89797	broad.mit.edu	37	11	20119140	20119140	+	Silent	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:20119140C>G	ENST00000396085.1	+	32	6400	c.6039C>G	c.(6037-6039)gtC>gtG	p.V2013V	NAV2_ENST00000396087.3_Silent_p.V2069V|NAV2_ENST00000540292.1_Silent_p.V2000V|NAV2_ENST00000533917.1_Silent_p.V1074V|NAV2_ENST00000360655.4_Silent_p.V1946V|NAV2_ENST00000311043.8_Silent_p.V1074V|NAV2_ENST00000527559.2_Silent_p.V1998V|NAV2_ENST00000349880.4_Silent_p.V2010V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2069						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATTCATGTCGACCCAGTGA	0.448000													11	65					0	0	0.000673	0	0
TSGA10	80705	broad.mit.edu	37	2	99695246	99695246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:99695246C>T	ENST00000393483.3	-	12	1602	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	TSGA10_ENST00000410001.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000355053.4_Missense_Mutation_p.R253Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	253					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GATTTCTTCTCGCTGTGCAAT	0.328000													8	29					0	0	0.003080	0	0
FAM47A	158724	broad.mit.edu	37	X	34149633	34149633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:34149633G>A	ENST00000346193.3	-	1	814	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	255										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATCTCCGACGAGTGATGGGA	0.622000													8	17					0	0	0.004482	0	0
NBPF10	100132406	broad.mit.edu	37	1	145365392	145365392	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:145365392C>G	ENST00000342960.5	+	80	10052	c.10017C>G	c.(10015-10017)tgC>tgG	p.C3339W	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3339										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGACTCATGCCAGCCCTACA	0.478000													13	89					0	0	0.002299	0	0
XKR4	114786	broad.mit.edu	37	8	56015652	56015652	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:56015652G>T	ENST00000327381.5	+	1	704	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	202						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGGTCTGCAGCCGGGGAAGG	0.677000													15	38					6.72482e-11	9.75573e-11	0.003163	1	0
CASP3	836	broad.mit.edu	37	4	185553070	185553070	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:185553070C>T	ENST00000308394.4	-	6	594	c.332G>A	c.(331-333)aGg>aAg	p.R111K	CASP3_ENST00000523916.1_Missense_Mutation_p.R111K|CASP3_ENST00000393585.2_Missense_Mutation_p.R111K|CASP3_ENST00000393588.4_Missense_Mutation_p.R111K|CASP3_ENST00000517513.1_Missense_Mutation_p.R111K	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	111					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AAAACTGCTCCTTTTGCTGTG	0.328000													38	86					0	0	0.004878	0	0
SOGA2	23255	broad.mit.edu	37	18	8783718	8783718	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:8783718G>C	ENST00000359865.3	+	6	750	c.608G>C	c.(607-609)cGg>cCg	p.R203P	SOGA2_ENST00000400050.3_Missense_Mutation_p.R203P|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.R203P|SOGA2_ENST00000306329.11_Missense_Mutation_p.R563P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	554																	CCCAGCACCCGGGAGGCCGAG	0.642000													13	19					0	0	0.001368	0	0
SIRT3	23410	broad.mit.edu	37	11	224206	224206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:224206G>A	ENST00000382743.4	-	5	943	c.841C>T	c.(841-843)Ccg>Tcg	p.P281S	SIRT3_ENST00000525319.1_Missense_Mutation_p.P200S|SIRT3_ENST00000524564.1_Missense_Mutation_p.P217S|SIRT3_ENST00000529382.1_Missense_Mutation_p.P139S|SIRT3_ENST00000532956.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	281	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GTGCAGACCGGGCAGCGGGGA	0.557000													9	43					0	0	0.004482	0	0
BEND7	222389	broad.mit.edu	37	10	13489310	13489310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:13489310G>A	ENST00000341083.3	-	8	1333	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	BEND7_ENST00000396900.2_Missense_Mutation_p.A397V|BEND7_ENST00000396898.2_Missense_Mutation_p.A410V|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.A358V	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	397	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATCACTGTCCGCGATCTCTGC	0.388000													13	63					0	0	0.001855	0	0
LRP6	4040	broad.mit.edu	37	12	12303861	12303861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:12303861C>T	ENST00000261349.4	-	13	2979	c.2903G>A	c.(2902-2904)cGg>cAg	p.R968Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R968Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	968	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R968L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCAATGGCCCGGACATTCCG	0.493000													46	104					0	0	0.003610	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	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)			11	9					0	0	0.004007	0	0
VPS13A	23230	broad.mit.edu	37	9	79938130	79938130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:79938130G>T	ENST00000360280.3	+	45	6238	c.5978G>T	c.(5977-5979)cGc>cTc	p.R1993L	VPS13A_ENST00000376634.4_Missense_Mutation_p.R1993L|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1954L|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1993L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1993					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTCACAATTCGCTCCCCAGTG	0.383000													17	33					3.41278e-10	4.8153e-10	0.004990	1	0
CD247	919	broad.mit.edu	37	1	167409931	167409931	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:167409931G>C	ENST00000392122.3	-	2	276	c.132C>G	c.(130-132)gtC>gtG	p.V44V	CD247_ENST00000362089.5_Silent_p.V44V|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	44					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			CAGTGAGAATGACACCATAGA	0.557000													6	40					0	0	0.003080	0	0
CFI	3426	broad.mit.edu	37	4	110667595	110667595	+	Silent	SNP	A	A	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:110667595A>G	ENST00000394634.2	-	11	1419	c.1212T>C	c.(1210-1212)ctT>ctC	p.L404L	CFI_ENST00000512148.1_Silent_p.L397L|CFI_ENST00000394635.3_Silent_p.L412L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	404	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTATACGTTTAAGGTCGGGGT	0.328000													6	39					0	0	0.001984	0	0
HECW1	23072	broad.mit.edu	37	7	43484716	43484716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:43484716G>A	ENST00000395891.1	+	11	2550	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	HECW1_ENST00000453890.1_Missense_Mutation_p.D649N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	649					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAGGATGGCGACACGCACCC	0.721000													9	17					0	0	0.004482	0	0
MEGF9	1955	broad.mit.edu	37	9	123476176	123476176	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:123476176G>T	ENST00000373930.3	-	1	572	c.461C>A	c.(460-462)cCg>cAg	p.P154Q	MEGF9_ENST00000426959.1_Missense_Mutation_p.P146Q	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	154	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGTCGGCGCCGGGCCAGTGGT	0.741000													6	47					2.74318e-10	3.92427e-10	0.006214	1	0
ATP2B3	492	broad.mit.edu	37	X	152808591	152808591	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:152808591C>G	ENST00000370186.1	+	6	1207	c.881C>G	c.(880-882)gCt>gGt	p.A294G	ATP2B3_ENST00000393842.1_Missense_Mutation_p.A294G|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A294G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A294G|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A294G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A294G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	294					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTGGAGCTGGCGGAGAG	0.572000													26	49					0	0	0.003330	0	0
EHMT2	10919	broad.mit.edu	37	6	31847881	31847881	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:31847881G>A	ENST00000395728.3	-	27	3783	c.3784C>T	c.(3784-3786)Ctg>Ttg	p.L1262L	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.L1171L|EHMT2_ENST00000375528.4_Silent_p.L1228L|EHMT2_ENST00000375537.4_Silent_p.L1205L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1205					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACAGGGGGCAGGGAGCCGAGC	0.657000													20	53					0	0	0.007413	0	0
GPN2	54707	broad.mit.edu	37	1	27216255	27216255	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:27216255G>A	ENST00000374135.4	-	1	533	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	111							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CCTGGCCTGGGCAGTCGAAGA	0.662000													17	88					0	0	0.007413	0	0
NOL4	8715	broad.mit.edu	37	18	31673461	31673461	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:31673461T>C	ENST00000261592.5	-	5	1037	c.740A>G	c.(739-741)cAa>cGa	p.Q247R	NOL4_ENST00000589544.1_Missense_Mutation_p.Q247R|NOL4_ENST00000535475.1_Missense_Mutation_p.Q92R|NOL4_ENST00000269185.4_Missense_Mutation_p.Q133R|NOL4_ENST00000538587.1_Missense_Mutation_p.Q173R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	247						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTGGGGACTTTGCATTCTTTC	0.383000													12	79					0	0	0.002450	0	0
ZNF560	147741	broad.mit.edu	37	19	9583928	9583928	+	Missense_Mutation	SNP	C	C	A	rs138007443		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9583928C>A	ENST00000301480.4	-	5	378	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	55	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTAAAGAGCTGAAATCCTT	0.458000													29	149					4.22769e-11	6.22075e-11	0.006320	1	0
DOPEY1	23033	broad.mit.edu	37	6	83872585	83872585	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:83872585G>A	ENST00000349129.2	+	38	7299	c.7039G>A	c.(7039-7041)Gaa>Aaa	p.E2347K	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E2338K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E2231K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2347					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATCAACGAGAATTTAAACC	0.393000													38	84					0	0	0.005524	0	0
ROBO1	6091	broad.mit.edu	37	3	78711146	78711146	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr3:78711146C>G	ENST00000436010.2	-	13	2965	c.1968G>C	c.(1966-1968)tgG>tgC	p.W656C	ROBO1_ENST00000464233.1_Missense_Mutation_p.W695C|ROBO1_ENST00000467549.1_Missense_Mutation_p.W659C|ROBO1_ENST00000495273.1_Missense_Mutation_p.W659C			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	695					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AACTCACTGTCCAGTGCACTT	0.453000													4	10					0	0	0.000248	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820226	50820226	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr10:50820226C>T	ENST00000374115.3	+	1	1880	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	480					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCCCGTTCCGAGCGCGATG	0.657000													13	53					0	0	0.001855	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405210	139405210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr9:139405210G>A	ENST00000277541.6	-	17	2710	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	879	EGF-like 23; calcium-binding (Potential).		R -> W (in dbSNP:rs11574895).		aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCCGTGCCGGCACGGGCTC	0.701000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	43					0	0	0.001855	0	0
MST1L	11223	broad.mit.edu	37	1	17083776	17083776	+	RNA	SNP	C	C	A	rs56318124		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr1:17083776C>A	ENST00000455405.2	-	0	812																		p.R674L(1)									CACAGAGACACGCGTGAAGAC	0.537000													8	46					5.50884e-06	7.41857e-06	0.001368	1	0
OR14C36	127066	broad.mit.edu	37	1	248513012	248513012	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr1:248513012G>A	ENST00000317861.1	+	1	936	c.936G>A	c.(934-936)gtG>gtA	p.V312V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGAAAATGTGTAAGAAACCC	0.333000													17	73					0	0	0.004990	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488000													52	274					0	0	0.003610	0	0
PCDH19	57526	broad.mit.edu	37	X	99662705	99662705	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrX:99662705C>A	ENST00000373034.4	-	1	2566	c.891G>T	c.(889-891)ctG>ctT	p.L297L	PCDH19_ENST00000420881.2_Silent_p.L297L|PCDH19_ENST00000255531.7_Silent_p.L297L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	297	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGACAGTGACCAGGCCACTGT	0.597000													43	44					9.39024e-22	1.5297e-21	0.002222	1	0
TTN	7273	broad.mit.edu	37	2	179599567	179599567	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:179599567G>A	ENST00000589042.1	-	51	15308	c.15084C>T	c.(15082-15084)gtC>gtT	p.V5028V	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.V3784V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.V4711V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4711	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACATTCGGACTGTGTTAC	0.418000													9	74					0	0	0.006214	0	0
RASA1	5921	broad.mit.edu	37	5	86659245	86659245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr5:86659245C>T	ENST00000456692.2	+	11	1118	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.R345*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.R512*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.R346*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	512	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCGAAAAACGAGCTACCAA	0.328000													18	31					0	0	0.007413	0	0
OXER1	165140	broad.mit.edu	37	2	42991037	42991037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:42991037G>C	ENST00000378661.2	-	1	364	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	95					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						ATTGGTGCCAGGAAGGCAGAC	0.637000													8	52					0	0	0.003080	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900702	22900702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr8:22900702C>T	ENST00000276431.4	-	2	483	c.199G>A	c.(199-201)Gcg>Acg	p.A67T	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.A67T	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	67			A -> V (in dbSNP:rs1047266).		activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGTGGGGCCGCTCTCTGCTGG	0.572000													5	38					0	0	0.000602	0	0
HECW2	57520	broad.mit.edu	37	2	197184307	197184307	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:197184307C>A	ENST00000260983.2	-	9	1489	c.1307G>T	c.(1306-1308)tGc>tTc	p.C436F	HECW2_ENST00000409111.1_Missense_Mutation_p.C80F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	436					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCTCAGAGCAGGTCGCTGT	0.498000													25	41					5.45024e-15	8.73769e-15	0.003330	1	0
MIR506	574511	broad.mit.edu	37	X	146312270	146312270	+	RNA	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrX:146312270C>A	ENST00000384998.1	-	0	91					NR_030233.1																						TTGCACATTACTCTACTCAGA	0.433000													45	26					2.215e-12	3.44177e-12	0.002852	1	0
THSD7B	80731	broad.mit.edu	37	2	138208533	138208533	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:138208533G>T	ENST00000409968.1	+	15	3256	c.3078G>T	c.(3076-3078)tgG>tgT	p.W1026C	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.W995C|THSD7B_ENST00000272643.3_Missense_Mutation_p.W1026C					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCAAATGGCTAAAAGAAA	0.413000													7	33					2.0095e-06	2.74269e-06	0.001984	1	0
ACTL7B	10880	broad.mit.edu	37	9	111617576	111617576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr9:111617576C>G	ENST00000374667.3	-	1	1663	c.635G>C	c.(634-636)gGc>gCc	p.G212A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	212						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCACGTCGCCCTCGGATAT	0.662000													6	38					0	0	0.003080	0	0
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr6:72968754G>A	ENST00000264839.7	+	18	2993	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	RIMS1_ENST00000401910.3_Missense_Mutation_p.R471Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R472Q|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R391Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R457Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R998Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R997Q			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R998Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353000													13	85					0	0	0.001368	0	0
RHO	6010	broad.mit.edu	37	3	129247885	129247885	+	Silent	SNP	C	C	T	rs149615742	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr3:129247885C>T	ENST00000296271.3	+	1	403	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	103					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGATACTTCGTCTTCGGGC	0.602000													21	148					0	0	0.001523	0	0
GRM1	2911	broad.mit.edu	37	6	146755794	146755794	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr6:146755794G>A	ENST00000361719.2	+	9	3917	c.3447G>A	c.(3445-3447)tcG>tcA	p.S1149S	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Silent_p.S1149S|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1149	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGCCTCCGTCGCCTTTCCGCG	0.652000													21	77					0	0	0.001882	0	0
FAM83C	128876	broad.mit.edu	37	20	33876323	33876323	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr20:33876323C>T	ENST00000374408.3	-	3	843	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	249										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAGGGCCTGCCCCGTGAAGC	0.622000													19	463					0	0	0.001523	0	0
TET1	80312	broad.mit.edu	37	10	70451332	70451332	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr10:70451332C>A	ENST00000373644.4	+	12	6381	c.6172C>A	c.(6172-6174)Caa>Aaa	p.Q2058K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2058					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAATAAGCCCCAACATGGTTT	0.453000													14	56					7.93312e-07	1.11284e-06	0.002450	1	0
FAT1	2195	broad.mit.edu	37	4	187521088	187521088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr4:187521088G>A	ENST00000441802.2	-	22	12276	c.12067C>T	c.(12067-12069)Cag>Tag	p.Q4023*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4023	EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTCCATTCTGGCAAGGGTTG	0.537000										HNSCC(5;0.00058)			9	59					0	0	0.004482	0	0
SBSN	374897	broad.mit.edu	37	19	36017775	36017775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr19:36017775C>T	ENST00000452271.2	-	1	1437	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	SBSN_ENST00000518157.1_Missense_Mutation_p.G127E	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	127						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCGGCCTGTTC	0.597000													7	20					0	0	0.003080	0	0
AIPL1	23746	broad.mit.edu	37	17	6330371	6330371	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr17:6330371C>T	ENST00000381129.3	-	4	552	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000570466.1_Missense_Mutation_p.A136T|AIPL1_ENST00000576776.1_Missense_Mutation_p.A158T|AIPL1_ENST00000250087.5_Missense_Mutation_p.A95T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A98T|AIPL1_ENST00000575265.1_Missense_Mutation_p.A158T|AIPL1_ENST00000574506.1_Missense_Mutation_p.A146T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	158					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCACTCGGGGCATCAACCTGG	0.602000													21	82					0	0	0.001882	0	0
HPD	3242	broad.mit.edu	37	12	122294232	122294232	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr12:122294232G>T	ENST00000543163.1	-	7	650	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	HPD_ENST00000289004.4_Missense_Mutation_p.Q108K|RP11-7M8.2_ENST00000543848.1_RNA	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	108					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTTCTTACCTGCACGATGTAG	0.582000													21	54					3.5997e-14	5.68078e-14	0.002299	1	0
NAV2	89797	broad.mit.edu	37	11	20119140	20119140	+	Silent	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr11:20119140C>G	ENST00000396085.1	+	32	6400	c.6039C>G	c.(6037-6039)gtC>gtG	p.V2013V	NAV2_ENST00000349880.4_Silent_p.V2010V|NAV2_ENST00000527559.2_Silent_p.V1998V|NAV2_ENST00000540292.1_Silent_p.V2000V|NAV2_ENST00000396087.3_Silent_p.V2069V|NAV2_ENST00000360655.4_Silent_p.V1946V|NAV2_ENST00000533917.1_Silent_p.V1074V|NAV2_ENST00000311043.8_Silent_p.V1074V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2069						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATTCATGTCGACCCAGTGA	0.448000													11	65					0	0	0.000673	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839920	27839920	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr6:27839920C>T	ENST00000328488.2	-	1	179	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	58					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCTCGGTCGACTTCTGGT	0.652000													21	134					0	0	0.003330	0	0
POLR2A	5430	broad.mit.edu	37	17	7414779	7414779	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr17:7414779G>C	ENST00000322644.6	+	24	4372	c.3973G>C	c.(3973-3975)Gat>Cat	p.D1325H		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1325					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.I1322_W1334del(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCACGGAGGATGGGGAATT	0.582000													4	34					0	0	0.000248	0	0
SFI1	9814	broad.mit.edu	37	22	32003955	32003955	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr22:32003955G>C	ENST00000432498.1	+	21	2490	c.2097G>C	c.(2095-2097)gtG>gtC	p.V699V	SFI1_ENST00000414585.1_Silent_p.V577V|SFI1_ENST00000400288.2_Silent_p.V730V|SFI1_ENST00000400289.1_Silent_p.V648V|SFI1_ENST00000540643.1_Silent_p.V675V|SFI1_ENST00000443326.1_Silent_p.V648V|SFI1_ENST00000443011.1_Silent_p.V577V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	730					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGTGTCAGTGCAGATGTATT	0.592000													7	47					0	0	0.001984	0	0
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423000													32	69					0	0	0.002836	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:110015235C>T	ENST00000309415.6	+	4	1135	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CACCAAGAAACGCCACTCCTT	0.597000													3	21					0	0	0.000248	0	0
SERPINB8	5271	broad.mit.edu	37	18	61649018	61649018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr18:61649018G>C	ENST00000397985.2	+	4	626	c.370G>C	c.(370-372)Gac>Cac	p.D124H	SERPINB8_ENST00000397988.3_Missense_Mutation_p.D124H|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D124H	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	124					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTGCTGAAGACACTGAAGA	0.413000													42	71					0	0	0.001951	0	0
LHX1	3975	broad.mit.edu	37	17	35299527	35299527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr17:35299527C>T	ENST00000254457.5	+	4	2117	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	236					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)				CTCCAAGGAGCGGAGGATGAA	0.741000													4	28					0	0	0.000602	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768679	140768679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr5:140768679C>T	ENST00000519479.1	+	1	1228	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTAGACCGCGAGCAGAA	0.438000													23	98					0	0	0.005443	0	0
CHL1	10752	broad.mit.edu	37	3	447203	447203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr3:447203G>T	ENST00000256509.2	+	28	4126	c.3484G>T	c.(3484-3486)Gga>Tga	p.G1162*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.G1146*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1146					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCTCTCAAAGGAAGCCTTCG	0.398000													7	31					2.7689e-08	3.93885e-08	0.001984	1	0
CPAMD8	27151	broad.mit.edu	37	19	17056415	17056415	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr19:17056415C>T	ENST00000443236.1	-	22	2909	c.2878G>A	c.(2878-2880)Gcc>Acc	p.A960T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	913						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCCTGTCGGCGTGATTCTCC	0.567000													19	92					0	0	0.007413	0	0
LRRK2	120892	broad.mit.edu	37	12	40716168	40716168	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr12:40716168G>C	ENST00000298910.7	+	37	5423	c.5365G>C	c.(5365-5367)Gaa>Caa	p.E1789Q		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1789					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCTCTCATGGAAGAATGGTT	0.403000													30	171					0	0	0.002445	0	0
CGNL1	84952	broad.mit.edu	37	15	57732649	57732649	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr15:57732649C>T	ENST00000281282.5	+	3	1755	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	559						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAGATTCTCTACAATTACC	0.443000													5	4					0	0	0.000602	0	0
ZMYND11	10771	broad.mit.edu	37	10	294467	294467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr10:294467G>C	ENST00000309776.4	+	13	1847	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	ZMYND11_ENST00000381607.4_Missense_Mutation_p.K379N|ZMYND11_ENST00000602682.1_Missense_Mutation_p.K388N|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K393N|ZMYND11_ENST00000535374.1_Missense_Mutation_p.K268N|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K473N|ZMYND11_ENST00000381602.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000545619.1_Missense_Mutation_p.K353N|ZMYND11_ENST00000509513.2_Missense_Mutation_p.K472N|ZMYND11_ENST00000381604.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000402736.1_Missense_Mutation_p.K442N|ZMYND11_ENST00000397962.3_Missense_Mutation_p.K473N|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K473N|ZMYND11_ENST00000381584.1_Missense_Mutation_p.K456N|ZMYND11_ENST00000397959.3_Missense_Mutation_p.K388N|ZMYND11_ENST00000473115.1_3'UTR	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	433	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATACACCAAGATCTTCAATG	0.512000													16	67					0	0	0.004007	0	0
HCN4	10021	broad.mit.edu	37	15	73635796	73635796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr15:73635796G>A	ENST00000261917.3	-	2	2132	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	380					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGATCTTCGTGAAGCGGAC	0.552000													7	41					0	0	0.001984	0	0
RFX2	5990	broad.mit.edu	37	19	6040054	6040054	+	Silent	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr19:6040054G>T	ENST00000303657.5	-	5	608	c.459C>A	c.(457-459)atC>atA	p.I153I	RFX2_ENST00000359161.3_Silent_p.I153I|RFX2_ENST00000592546.1_Silent_p.I153I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCCCCCGTGGATGAGATAGG	0.677000													3	21					0.004672	0.0058984	0.004672	1	0
SCN10A	6336	broad.mit.edu	37	3	38739945	38739945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr3:38739945G>A	ENST00000449082.2	-	27	4765	c.4766C>T	c.(4765-4767)gCg>gTg	p.A1589V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1589					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCCTTGGCCGCTCGGATCAG	0.522000													17	67					0	0	0.004007	0	0
FAM155B	27112	broad.mit.edu	37	X	68725656	68725656	+	Silent	SNP	C	C	A	rs142803076	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrX:68725656C>A	ENST00000252338.4	+	1	573	c.531C>A	c.(529-531)gcC>gcA	p.A177A		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	177						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GTGCCCCGGCCGAGTTCCCCT	0.577000													19	40					0.006122	0.00763361	0.006122	1	0
SEMA4F	10505	broad.mit.edu	37	2	74883756	74883756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:74883756G>A	ENST00000357877.2	+	2	390	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A81T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	81	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTATGTTGGCGCCCGGGACAC	0.577000													23	107					0	0	0.002780	0	0
KIF1B	23095	broad.mit.edu	37	1	10364155	10364155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr1:10364155C>G	ENST00000377093.4	+	21	3065	c.2912C>G	c.(2911-2913)tCt>tGt	p.S971C	KIF1B_ENST00000377083.1_Missense_Mutation_p.S971C|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACAGAAACTCTTGGAGTCCT	0.463000													29	104					0	0	0.007291	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911039	230911039	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:230911039G>T	ENST00000295190.4	-	4	1261	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	268						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCCTGATCGGGGCACTCCTG	0.577000													27	129					1.26454e-06	1.74957e-06	0.005443	1	0
BPIFB2	80341	broad.mit.edu	37	20	31606143	31606143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr20:31606143C>A	ENST00000170150.3	+	8	851	c.656C>A	c.(655-657)tCc>tAc	p.S219Y		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	219						extracellular region	lipid binding										GACTACATTTCCCTGGAAGTC	0.567000													28	176					7.38237e-10	1.06517e-09	0.006320	1	0
LRRN3	54674	broad.mit.edu	37	7	110763263	110763263	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr7:110763263C>A	ENST00000451085.1	+	4	1481	c.435C>A	c.(433-435)ctC>ctA	p.L145L	LRRN3_ENST00000422987.3_Silent_p.L145L|LRRN3_ENST00000308478.5_Silent_p.L145L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	145						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACAAGAACTCTATATTAATC	0.373000													5	49					0.00116845	0.00149384	0.001168	1	0
TSGA10	80705	broad.mit.edu	37	2	99695246	99695246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:99695246C>T	ENST00000393483.3	-	12	1602	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	TSGA10_ENST00000539964.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000410001.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000355053.4_Missense_Mutation_p.R253Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.R253Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	253					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GATTTCTTCTCGCTGTGCAAT	0.328000													8	29					0	0	0.003080	0	0
FAM47A	158724	broad.mit.edu	37	X	34149633	34149633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrX:34149633G>A	ENST00000346193.3	-	1	814	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	255										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATCTCCGACGAGTGATGGGA	0.622000													8	17					0	0	0.004482	0	0
NBPF10	100132406	broad.mit.edu	37	1	145365392	145365392	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr1:145365392C>G	ENST00000342960.5	+	80	10052	c.10017C>G	c.(10015-10017)tgC>tgG	p.C3339W	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3339										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGACTCATGCCAGCCCTACA	0.478000													13	89					0	0	0.002299	0	0
XKR4	114786	broad.mit.edu	37	8	56015652	56015652	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr8:56015652G>T	ENST00000327381.5	+	1	704	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	202						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGGTCTGCAGCCGGGGAAGG	0.677000													15	38					6.72482e-11	1.01374e-10	0.003163	1	0
IDH3G	3421	broad.mit.edu	37	X	153059758	153059758	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrX:153059758G>A	ENST00000370092.3	-	1	209	c.24C>T	c.(22-24)gtC>gtT	p.V8V	SSR4_ENST00000370087.1_5'UTR|IDH3G_ENST00000217901.5_Silent_p.V8V|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_5'UTR|SSR4_ENST00000320857.3_5'UTR|IDH3G_ENST00000370093.1_Silent_p.V8V	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	8					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CGCTGCCGGCGACGGTCGCTA	0.687000													3	8					0	0	0.000248	0	0
CASP3	836	broad.mit.edu	37	4	185553070	185553070	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr4:185553070C>T	ENST00000308394.4	-	6	594	c.332G>A	c.(331-333)aGg>aAg	p.R111K	CASP3_ENST00000523916.1_Missense_Mutation_p.R111K|CASP3_ENST00000517513.1_Missense_Mutation_p.R111K|CASP3_ENST00000393585.2_Missense_Mutation_p.R111K|CASP3_ENST00000393588.4_Missense_Mutation_p.R111K	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	111					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AAAACTGCTCCTTTTGCTGTG	0.328000													38	86					0	0	0.004878	0	0
SOGA2	23255	broad.mit.edu	37	18	8783718	8783718	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr18:8783718G>C	ENST00000359865.3	+	6	750	c.608G>C	c.(607-609)cGg>cCg	p.R203P	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.R203P|SOGA2_ENST00000306329.11_Missense_Mutation_p.R563P|SOGA2_ENST00000517570.1_Missense_Mutation_p.R203P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	554																	CCCAGCACCCGGGAGGCCGAG	0.642000													13	19					0	0	0.001368	0	0
SIRT3	23410	broad.mit.edu	37	11	224206	224206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr11:224206G>A	ENST00000382743.4	-	5	943	c.841C>T	c.(841-843)Ccg>Tcg	p.P281S	SIRT3_ENST00000525319.1_Missense_Mutation_p.P200S|SIRT3_ENST00000524564.1_Missense_Mutation_p.P217S|SIRT3_ENST00000529382.1_Missense_Mutation_p.P139S|SIRT3_ENST00000532956.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	281	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GTGCAGACCGGGCAGCGGGGA	0.557000													9	43					0	0	0.004482	0	0
BEND7	222389	broad.mit.edu	37	10	13489310	13489310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr10:13489310G>A	ENST00000341083.3	-	8	1333	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	BEND7_ENST00000378605.3_Missense_Mutation_p.A358V|BEND7_ENST00000396900.2_Missense_Mutation_p.A397V|BEND7_ENST00000396898.2_Missense_Mutation_p.A410V|BEND7_ENST00000486542.1_5'UTR	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	397	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATCACTGTCCGCGATCTCTGC	0.388000													13	63					0	0	0.001855	0	0
LRP6	4040	broad.mit.edu	37	12	12303861	12303861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr12:12303861C>T	ENST00000261349.4	-	13	2979	c.2903G>A	c.(2902-2904)cGg>cAg	p.R968Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R968Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	968	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R968L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCAATGGCCCGGACATTCCG	0.493000													46	104					0	0	0.003610	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|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)			11	9					0	0	0.004007	0	0
VPS13A	23230	broad.mit.edu	37	9	79938130	79938130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr9:79938130G>T	ENST00000360280.3	+	45	6238	c.5978G>T	c.(5977-5979)cGc>cTc	p.R1993L	VPS13A_ENST00000376634.4_Missense_Mutation_p.R1993L|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1954L|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1993L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1993					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTCACAATTCGCTCCCCAGTG	0.383000													17	33					3.41278e-10	4.99552e-10	0.004990	1	0
CD247	919	broad.mit.edu	37	1	167409931	167409931	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr1:167409931G>C	ENST00000392122.3	-	2	276	c.132C>G	c.(130-132)gtC>gtG	p.V44V	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Silent_p.V44V	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	44					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			CAGTGAGAATGACACCATAGA	0.557000													6	40					0	0	0.003080	0	0
CFI	3426	broad.mit.edu	37	4	110667595	110667595	+	Silent	SNP	A	A	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr4:110667595A>G	ENST00000394634.2	-	11	1419	c.1212T>C	c.(1210-1212)ctT>ctC	p.L404L	CFI_ENST00000512148.1_Silent_p.L397L|CFI_ENST00000394635.3_Silent_p.L412L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	404	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTATACGTTTAAGGTCGGGGT	0.328000													6	39					0	0	0.001984	0	0
HECW1	23072	broad.mit.edu	37	7	43484716	43484716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr7:43484716G>A	ENST00000395891.1	+	11	2550	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	HECW1_ENST00000453890.1_Missense_Mutation_p.D649N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	649					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAGGATGGCGACACGCACCC	0.721000													9	17					0	0	0.004482	0	0
MEGF9	1955	broad.mit.edu	37	9	123476176	123476176	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr9:123476176G>T	ENST00000373930.3	-	1	572	c.461C>A	c.(460-462)cCg>cAg	p.P154Q	MEGF9_ENST00000426959.1_Missense_Mutation_p.P146Q	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	154	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGTCGGCGCCGGGCCAGTGGT	0.741000													6	47					2.74318e-10	4.07443e-10	0.006214	1	0
ATP2B3	492	broad.mit.edu	37	X	152808591	152808591	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrX:152808591C>G	ENST00000370186.1	+	6	1207	c.881C>G	c.(880-882)gCt>gGt	p.A294G	ATP2B3_ENST00000349466.2_Missense_Mutation_p.A294G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A294G|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A294G|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A294G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A294G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	294					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTGGAGCTGGCGGAGAG	0.572000													26	49					0	0	0.003330	0	0
EHMT2	10919	broad.mit.edu	37	6	31847881	31847881	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr6:31847881G>A	ENST00000395728.3	-	27	3783	c.3784C>T	c.(3784-3786)Ctg>Ttg	p.L1262L	EHMT2_ENST00000375537.4_Silent_p.L1205L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.L1228L|EHMT2_ENST00000375530.4_Silent_p.L1171L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1205					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACAGGGGGCAGGGAGCCGAGC	0.657000													20	53					0	0	0.007413	0	0
GPN2	54707	broad.mit.edu	37	1	27216255	27216255	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr1:27216255G>A	ENST00000374135.4	-	1	533	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	111							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CCTGGCCTGGGCAGTCGAAGA	0.662000													17	88					0	0	0.007413	0	0
NOL4	8715	broad.mit.edu	37	18	31673461	31673461	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr18:31673461T>C	ENST00000261592.5	-	5	1037	c.740A>G	c.(739-741)cAa>cGa	p.Q247R	NOL4_ENST00000589544.1_Missense_Mutation_p.Q247R|NOL4_ENST00000538587.1_Missense_Mutation_p.Q173R|NOL4_ENST00000535475.1_Missense_Mutation_p.Q92R|NOL4_ENST00000269185.4_Missense_Mutation_p.Q133R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	247						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTGGGGACTTTGCATTCTTTC	0.383000													12	79					0	0	0.002450	0	0
ZNF560	147741	broad.mit.edu	37	19	9583928	9583928	+	Missense_Mutation	SNP	C	C	A	rs138007443		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr19:9583928C>A	ENST00000301480.4	-	5	378	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	55	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTAAAGAGCTGAAATCCTT	0.458000													29	149					4.22769e-11	6.46965e-11	0.006320	1	0
DOPEY1	23033	broad.mit.edu	37	6	83872585	83872585	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr6:83872585G>A	ENST00000349129.2	+	38	7299	c.7039G>A	c.(7039-7041)Gaa>Aaa	p.E2347K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E2338K|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E2231K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2347					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATCAACGAGAATTTAAACC	0.393000													38	84					0	0	0.005524	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186959	26186960	+	RNA	INS	-	-	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:26186959_26186960insT	ENST00000455431.1	+	0	263																											AAATTTTGTAATTTTTTTTTTT	0.554													2	4	---	---	---	---					
RP11-640M9.2	0	broad.mit.edu	37	1	144597983	144597991	+	RNA	DEL	CAGATAGAC	CAGATAGAC	-	rs111294330		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:144597983_144597991delCAGATAGAC	ENST00000419820.1	+	0	439																											TATACGTGTACAGATAGACCAGATAGACC	0.402													3	6	---	---	---	---					
UXS1	80146	broad.mit.edu	37	2	106774513	106774513	+	Splice_Site	DEL	C	C	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:106774513delC	ENST00000283148.7	-	5	389		c.e5+1		UXS1_ENST00000540130.1_Splice_Site|UXS1_ENST00000479621.1_Splice_Site|UXS1_ENST00000409501.3_Splice_Site|UXS1_ENST00000428048.2_Intron	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGCAAACTTACCAAAATTCTT	0.303													2	4	---	---	---	---					
AMIGO3	386724	broad.mit.edu	37	3	49755604	49755605	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:49755604_49755605delTG	ENST00000535833.1	-	10	4744_4745	c.1294_1295delCA	c.(1294-1296)gfs	p.Q432fs	RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Frame_Shift_Del_p.Q432fs|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	432					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACTGAGGACTGTGCGCTCAGC	0.683													27	108	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													3	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579390	7579393	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7579390_7579393delGGAA	ENST00000420246.2	-	4	426_429	c.294_297delTTCC	c.(292-297)ccfs	p.PS98fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PS98fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PS98fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PS98fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	98	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S99fs*48(3)|p.S99fs*23(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S99F(2)|p.V73fs*9(1)|p.S99P(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S99fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGTTTTCTGGGAAGGGACAGAAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			72	59	---	---	---	---					
MYO1D	4642	broad.mit.edu	37	17	31094740	31094741	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:31094740_31094741delCT	ENST00000318217.5	-	7	1048_1049	c.744_745delAG	c.(742-747)agttfs	p.RV248fs	MYO1D_ENST00000394649.4_Frame_Shift_Del_p.RV160fs|MYO1D_ENST00000579584.1_Frame_Shift_Del_p.RV248fs|MYO1D_ENST00000583621.1_Frame_Shift_Del_p.RV248fs	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	248	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCAGCAACAACTCTGAATTCGG	0.381													18	26	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9061827	9061828	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9061827_9061828delAT	ENST00000397910.4	-	3	25821_25822	c.25618_25619delAT	c.(25618-25620)gfs	p.M8540fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8542	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTCTACTCATAAGAGTGGTC	0.520													16	73	---	---	---	---					
EIF2S2	8894	broad.mit.edu	37	20	32693175	32693175	+	Splice_Site	DEL	T	T	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:32693175delT	ENST00000374980.2	-	2	413	c.193_splice	c.e2+1	p.K64_splice		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	64						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACCACGCACCTTTTTTCCTAG	0.483													7	1120	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													4	3	---	---	---	---					
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													3	6	---	---	---	---					
RP1-125I3.2	0	broad.mit.edu	37	1	26186959	26186960	+	RNA	INS	-	-	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr1:26186959_26186960insT	ENST00000455431.1	+	0	263																											AAATTTTGTAATTTTTTTTTTT	0.554													2	4	---	---	---	---					
UXS1	80146	broad.mit.edu	37	2	106774513	106774513	+	Splice_Site	DEL	C	C	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr2:106774513delC	ENST00000283148.7	-	5	389		c.e5+1		UXS1_ENST00000540130.1_Splice_Site|UXS1_ENST00000409501.3_Splice_Site|UXS1_ENST00000479621.1_Splice_Site|UXS1_ENST00000428048.2_Intron	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGCAAACTTACCAAAATTCTT	0.303													2	4	---	---	---	---					
AMIGO3	386724	broad.mit.edu	37	3	49755604	49755605	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr3:49755604_49755605delTG	ENST00000535833.1	-	10	4744_4745	c.1294_1295delCA	c.(1294-1296)gfs	p.Q432fs	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Frame_Shift_Del_p.Q432fs			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	432					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACTGAGGACTGTGCGCTCAGC	0.683													27	108	---	---	---	---					
MYO1D	4642	broad.mit.edu	37	17	31094740	31094741	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr17:31094740_31094741delCT	ENST00000318217.5	-	7	1048_1049	c.744_745delAG	c.(742-747)agttfs	p.RV248fs	MYO1D_ENST00000583621.1_Frame_Shift_Del_p.RV248fs|MYO1D_ENST00000579584.1_Frame_Shift_Del_p.RV248fs|MYO1D_ENST00000394649.4_Frame_Shift_Del_p.RV160fs	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	248	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCAGCAACAACTCTGAATTCGG	0.381													18	26	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9061827	9061828	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr19:9061827_9061828delAT	ENST00000397910.4	-	3	25821_25822	c.25618_25619delAT	c.(25618-25620)gfs	p.M8540fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8542	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTCTACTCATAAGAGTGGTC	0.520													16	73	---	---	---	---					
EIF2S2	8894	broad.mit.edu	37	20	32693175	32693175	+	Splice_Site	DEL	T	T	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr20:32693175delT	ENST00000374980.2	-	2	413	c.193_splice	c.e2+1	p.K64_splice		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	64						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACCACGCACCTTTTTTCCTAG	0.483													7	1120	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33345721	33345723	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chr20:33345721_33345723delTGC	ENST00000374796.2	-	8	3398_3400	c.828_830delGCA	c.(826-831)caa>ca	p.QQ284del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ284del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	284	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ttgctgttgttgctgctgctgct	0.537													7	197	---	---	---	---					
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													3	6	---	---	---	---