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
ETV3L	440695	broad.mit.edu	37	1	157067666	157067666	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:157067666C>T	ENST00000454449.2	-	4	885	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V201I(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TCACGGTAGACGCTGCTGCTG	0.632													25	202	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212118153	212118153	+	Silent	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:212118153C>T	ENST00000366994.3	-	19	2678	c.2574G>A	c.(2572-2574)ctG>ctA	p.L858L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366993.3_Silent_p.L844L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	858					snRNA processing	integrator complex	protein binding	p.L858L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTTACTCTGCAGTGTGGAAG	0.423													24	160	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146824230	146824230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:146824230G>A	ENST00000508784.1	-	2	408	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*			Q17R98	ZN827_HUMAN	zinc finger protein 827	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q61*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GACTGCTCCTGGATCCGGTCC	0.567													14	79	---	---	---	---
EEF1E1	9521	broad.mit.edu	37	6	8097597	8097597	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:8097597G>A	ENST00000379715.5	-	2	247	c.191C>T	c.(190-192)aCt>aTt	p.T64I	EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	64	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		p.T64I(1)		endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TTCTTCTGCAGTACTCCCCAG	0.428													18	162	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55142195	55142195	+	Silent	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:55142195T>C	ENST00000370862.3	+	5	1116	c.780T>C	c.(778-780)tcT>tcC	p.S260S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	260					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACATCATCTGTAGTTCAGA	0.483													9	75	---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42914260	42914260	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:42914260G>T	ENST00000302279.3	+	2	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D33Y|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	76					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGCTGATATAGATCCGGTGCC	0.398													4	53	---	---	---	---
IL7	3574	broad.mit.edu	37	8	79645969	79645969	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:79645969C>G	ENST00000263851.4	-	6	1113	c.513G>C	c.(511-513)ttG>ttC	p.L171F	IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.L58F	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	171					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323													15	103	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143558817	143558817	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:143558817C>T	ENST00000517894.1	+	6	2188	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	BAI1_ENST00000323289.5_Missense_Mutation_p.R432C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	432	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTTCGGGATCGCACGCGCAC	0.652													6	119	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1081737	1081737	+	Silent	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:1081737C>T	ENST00000441003.2	+	13	1692	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	MUC2_ENST00000359061.5_Silent_p.N555N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	555	VWFD 2.					inner mucus layer|outer mucus layer	protein binding	p.N555N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTTTGCCAACACCTGGAAGG	0.652													13	57	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35313864	35313864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:35313864G>A	ENST00000278379.3	-	7	1343	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	354					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGTGATCCAAGCTTGGAAAAT	0.463													19	419	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418689	55418689	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:55418689T>A	ENST00000312422.2	+	1	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGAGTACATTTCTTTGGTTG	0.428													19	288	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128868319	128868319	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:128868319T>C	ENST00000310343.9	-	11	1047	c.1048A>G	c.(1048-1050)Atg>Gtg	p.M350V	ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	350					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.M1V(2)|p.M350V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGAGACTTCATGAATGTTCGT	0.403													19	128	---	---	---	---
ASUN	55726	broad.mit.edu	37	12	27081791	27081791	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:27081791A>C	ENST00000261191.7	-	4	884	c.348T>G	c.(346-348)gaT>gaG	p.D116E	ASUN_ENST00000539625.1_Missense_Mutation_p.D15E	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	116					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AGCACTCTGGATCTGCCCGAG	0.448													4	74	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49430959	49430959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:49430959G>A	ENST00000301067.7	-	34	10179	c.10180C>T	c.(10180-10182)Cag>Tag	p.Q3394*	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q3394*(1)|p.Q3124*(1)									GCCAATTGCTGCGGCTTCATG	0.537													8	39	---	---	---	---
CSAD	51380	broad.mit.edu	37	12	53567192	53567192	+	Silent	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:53567192G>A	ENST00000267085.4	-	4	377	c.144C>T	c.(142-144)ctC>ctT	p.L48L	CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000444623.1_Silent_p.L21L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	21					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ACACGGCCCGGAGCAAGGCTT	0.562													11	104	---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109181845	109181845	+	Missense_Mutation	SNP	C	C	G	rs146644569		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:109181845C>G	ENST00000326495.5	-	15	3162	c.3069G>C	c.(3067-3069)agG>agC	p.R1023S	SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1023	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R1023S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGCTGGGTCCCTCGGGGTTC	0.572													28	187	---	---	---	---
CLN5	1203	broad.mit.edu	37	13	77570129	77570129	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr13:77570129T>G	ENST00000377453.3	+	3	1871	c.579T>G	c.(577-579)tgT>tgG	p.C193W	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	144					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGCAACTGTACATTTCCCC	0.418													8	195	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9858034	9858034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:9858034C>A	ENST00000396573.2	-	14	3676	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1123					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1123*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCTCCTTCTCACCATCTATA	0.522													18	286	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20554289	20554289	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:20554289G>A	ENST00000329697.6	-	12	1624	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	486					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.P486S(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACAGCAGGGTGCTTCATC	0.562													13	124	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7752710	7752710	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:7752710G>T	ENST00000254846.5	+	11	3493	c.3104G>T	c.(3103-3105)cGg>cTg	p.R1035L	KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1035					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGAAGTCCCGGCCCGATCTT	0.662													3	36	---	---	---	---
BLMH	642	broad.mit.edu	37	17	28616489	28616489	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:28616489T>C	ENST00000261714.6	-	3	397	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	BLMH_ENST00000394819.3_Intron	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	75					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	p.I75V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						CAAGAAAAGATCCAGCATCGC	0.383													7	48	---	---	---	---
CCL7	6354	broad.mit.edu	37	17	32597376	32597376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:32597376G>A	ENST00000378569.2	+	1	137	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	23					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGGGGCTTGCTCAGCCAGG	0.557													9	85	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:47696432A>G	ENST00000393331.3	-	7	861	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			25	212	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55341560	55341560	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr19:55341560G>A	ENST00000391728.4	+	9	1198	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.D389N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.527													68	361	---	---	---	---
EBP	10682	broad.mit.edu	37	X	48386620	48386620	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chrX:48386620A>T	ENST00000495186.1	+	5	1292		c.e5-1		EBP_ENST00000276096.6_Splice_Site	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)						cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						TGCCACCCACAGGCCAGATCT	0.537													3	14	---	---	---	---
FBXO6	26270	broad.mit.edu	37	1	11733821	11733821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:11733821delG	ENST00000376753.4	+	6	930	c.795delG	c.(793-795)cagfs	p.Q265fs		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	265					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAACCAGGCCTCCTCCG	0.617													8	91	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140437911	140437912	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:140437911_140437912insC	ENST00000406427.1	-	6	814_815	c.478_479insG	c.(478-480)gaafs	p.E160fs	PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.E135fs	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	135					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTACAGAACTTCCGATGGCAGG	0.639													7	197	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15256160	15256160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:15256160delC	ENST00000378116.4	-	8	1433	c.1427delG	c.(1426-1428)ggcfs	p.G476fs		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	476						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGACTCGTAGCCTTCTCTTTC	0.483													21	132	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61832387	61832388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:61832387_61832388insT	ENST00000280772.2	-	37	8442_8443	c.8251_8252insA	c.(8251-8253)atafs	p.I2751fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCTCCTGTATTTTTTTAACT	0.401													18	156	---	---	---	---
