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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KHDRBS2	202559	broad.mit.edu	37	6	62611258	62611258	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:62611258G>A	uc003peg.2	-	4	749	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTTCCTGACGAATTTCATCA	0.403000														39			11		0	0	0.00136819	0	0
UNC13C	440279	broad.mit.edu	37	15	54799360	54799360	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:54799360G>A	uc021smr.1	+	20	5341	c.5341G>A	c.(5341-5343)Gat>Aat	p.D1781N	UNC13C_uc021sms.1_Missense_Mutation_p.D1783N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1783					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1781*(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTATCAAGTGATTTCAGTTC	0.318000														18			5		0	0	0.00116845	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:84117513G>A	uc003pjy.3	-	1	451	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	62					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000														71			18		0	0	0.00121646	0	0
HTR1E	3354	broad.mit.edu	37	6	87725331	87725331	+	Silent	SNP	C	T	T	rs143123336		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:87725331C>T	uc003pli.3	+	1	982	c.279C>T	c.(277-279)ttC>ttT	p.F93F	HTR1E_uc021zcg.1_Silent_p.F93F	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	93					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTGGGTACTTCCTCTGTGAGG	0.562000														56			9		0	0	0.000442599	0	0
KRT6A	3853	broad.mit.edu	37	12	52885512	52885512	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52885512G>A	uc001sam.3	-	1	758	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	183	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTCCAGGAACCGCACCT	0.542000														16			6		0	0	0.00116845	0	0
ERCC1	2067	broad.mit.edu	37	19	45924602	45924602	+	Missense_Mutation	SNP	G	A	A	rs149666093	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:45924602G>A	uc002pbs.2	-	2	301	c.155C>T	c.(154-156)tCg>tTg	p.S52L	ERCC1_uc002pbt.2_Missense_Mutation_p.S52L|ERCC1_uc002pbu.2_Intron|ERCC1_uc002pbv.3_Missense_Mutation_p.S52L	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	52					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CGCCTGGGCCGAGGTGTCCAC	0.637000								Nucleotide excision repair (NER)						20			9		0	0	0.000673444	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751321	19751321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:19751321G>A	uc009zzj.3	-	3	907	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	268					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.F267S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTGGCCAGGGGGAAGTGGATG	0.617000														48			7		0	0	0.000274275	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	T	T	rs61730792	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:10419889C>T	uc002gmo.3	-	2	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R24Q(2)|p.E23D(1)|p.R24*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507000														56			18		0	0	0.00152264	0	0
DUOX2	50506	broad.mit.edu	37	15	45392980	45392980	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:45392980G>A	uc001zun.3	-	22	3181	c.2978C>T	c.(2977-2979)cCt>cTt	p.P993L	DUOX2_uc010bea.3_Missense_Mutation_p.P993L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	993	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTCAGTCCAGGGCCTCCCAG	0.592000														46			6		0	0	0.000157383	0	0
UXS1	80146	broad.mit.edu	37	2	106721260	106721260	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:106721260G>A	uc002tdm.3	-	10	996	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	UXS1_uc002tdl.3_Nonsense_Mutation_p.Q132*|UXS1_uc002tdn.3_Nonsense_Mutation_p.Q305*|UXS1_uc002tdo.3_Nonsense_Mutation_p.Q243*|UXS1_uc010ywh.2_Nonsense_Mutation_p.Q144*	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	300					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTGACGTACTGGAACGCCCTT	0.527000											OREG0014864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			10		0	0	0.000308642	0	0
XIRP2	129446	broad.mit.edu	37	2	168102316	168102316	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:168102316G>A	uc002udx.3	+	8	4503	c.4414G>A	c.(4414-4416)Gaa>Aaa	p.E1472K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1297K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1250K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1297					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTAGAATATGAAAATATCAA	0.378000														31			5		0	0	0.000602214	0	0
KRT75	9119	broad.mit.edu	37	12	52827609	52827609	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52827609G>A	uc001saj.2	-	0	502	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	160	Coil 1A.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGAAGGAGGCGAACTTATTGT	0.562000														46			12		0	0	0.000219431	0	0
RYR2	6262	broad.mit.edu	37	1	237756850	237756850	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:237756850C>T	uc001hyl.1	+	32	4470	c.4350C>T	c.(4348-4350)ttC>ttT	p.F1450F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1450	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCAGATTTCCATCAGTATG	0.408000														46			8		0	0	0.000274275	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988913	66988913	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:66988913C>T	uc003xvs.1	+	3	429	c.138C>T	c.(136-138)caC>caT	p.H46H	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	46	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CCCTGAAACACCATCCAGACA	0.378000														80			18		0	0	0.00121646	0	0
ADAM2	2515	broad.mit.edu	37	8	39694659	39694659	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:39694659G>A	uc003xnj.3	-	1	203	c.128C>T	c.(127-129)tCg>tTg	p.S43L	ADAM2_uc003xnk.3_Missense_Mutation_p.S43L|ADAM2_uc011lck.2_Missense_Mutation_p.S43L|ADAM2_uc003xnl.3_Missense_Mutation_p.S43L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	43					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S43L(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATTACCTGCGATTCAATTCC	0.303000														48			9		0	0	0.000673444	0	0
APOB	338	broad.mit.edu	37	2	21239423	21239424	+	Nonsense_Mutation	DNP	CG	AT	AT	rs72653074		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:21239423_21239424CG>AT	uc002red.3	-	20	3347_3348	c.3219_3220CG>AT	c.(3217-3222)ctcgga>ctATga	p.G1074*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1074					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGATTGTTCCGAGGTCAACAT	0.446000														436			13		0	0	6.4e-05	0	0
MARCO	8685	broad.mit.edu	37	2	119739012	119739012	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:119739012G>A	uc002tln.1	+	8	926	c.794G>A	c.(793-795)gGa>gAa	p.G265E	MARCO_uc010yyf.1_Missense_Mutation_p.G187E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	265	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCATGAAAGGAGATGCAGGG	0.562000														9			5		0	0	8.12818e-05	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702594	27702594	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:27702594G>T	uc001itu.2	-	0	704	c.586C>A	c.(586-588)Cgc>Agc	p.R196S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	196					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCGGAGAAGCGGTAGGAGTCG	0.607000														44			5		0.00116845	0.00647013	0.00116845	1	0
PTPRT	11122	broad.mit.edu	37	20	41076937	41076937	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:41076937C>T	uc002xkg.3	-	8	1667	c.1483G>A	c.(1483-1485)Ggg>Agg	p.G495R	PTPRT_uc010ggj.3_Missense_Mutation_p.G495R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	495	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AAGGGCCCCCCTTGGATGGAT	0.507000														68			11		0	0	0.00185496	0	0
IDE	3416	broad.mit.edu	37	10	94223525	94223526	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:94223525_94223526CC>AA	uc001kia.3	-	20	2799_2800	c.2723_2724GG>TT	c.(2722-2724)tgg>tTT	p.W908F	IDE_uc010qnp.2_Missense_Mutation_p.W353F|IDE_uc001khz.3_Missense_Mutation_p.W353F	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	908					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATTTCTCCCCAGTATTTAGC	0.401000														325			18		0	0	6.4e-05	0	0
OR52E2	119678	broad.mit.edu	37	11	5080816	5080816	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5080816G>A	uc010qyw.2	-	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAACAGGAAGGAGGAGG	0.483000														26			9		0	0	0.000442599	0	0
GJB6	10804	broad.mit.edu	37	13	20797525	20797525	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:20797525C>T	uc001und.4	-	2	482	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	GJB6_uc001umz.4_Missense_Mutation_p.R32Q|GJB6_uc001unb.4_Missense_Mutation_p.R32Q|GJB6_uc001unc.4_Missense_Mutation_p.R32Q|GJB6_uc001una.4_Missense_Mutation_p.R32Q|GJB6_uc021rhb.1_Missense_Mutation_p.R32Q	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	32					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GATCATGACTCGGAAAATAAA	0.532000														50			12		0	0	0.00185496	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18747486	18747486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:18747486C>T	uc001rdt.3	+	28	4063	c.3947C>T	c.(3946-3948)tCa>tTa	p.S1316L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S1357L|PIK3C2G_uc010sic.2_Missense_Mutation_p.S1135L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1316					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTGAAGAATCATCACCTGTG	0.284000														47			6		0	0	8.12818e-05	0	0
FAM117B	150864	broad.mit.edu	37	2	203589651	203589651	+	Silent	SNP	A	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:203589651A>C	uc010zhx.2	+	2	775	c.765A>C	c.(763-765)gcA>gcC	p.A255A	FAM117B_uc010zhw.2_Silent_p.A255A	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	255										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CAGAGAGTGCATGGGCTGAAG	0.368000														114			30		0	0	0.000491102	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114181	117114181	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:117114181C>T	uc003pxj.1	-	5	1927	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V	GPRC6A_uc003pxk.1_Silent_p.V460V|GPRC6A_uc003pxl.1_Silent_p.V564V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	635					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGAGAAGGATCACATAGCAGA	0.408000														39			9		0	0	0.000274275	0	0
NPAS4	266743	broad.mit.edu	37	11	66190353	66190353	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:66190353C>T	uc001ohx.1	+	3	815	c.639C>T	c.(637-639)ttC>ttT	p.F213F	NPAS4_uc010rpc.1_Missense_Mutation_p.S40F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	213	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTCGCTCTTCCTGGCCATGT	0.612000														22			9		0	0	0.000442599	0	0
ACAN	176	broad.mit.edu	37	15	89400917	89400917	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:89400917G>A	uc010upo.1	+	11	5475	c.5101G>A	c.(5101-5103)Gac>Aac	p.D1701N	ACAN_uc010upp.1_Missense_Mutation_p.D1701N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1701					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGAGCTGGACATTAGTGG	0.542000														82			23		0	0	0.000295444	0	0
CD163	9332	broad.mit.edu	37	12	7639216	7639216	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:7639216C>T	uc001qsz.3	-	9	2465	c.2337G>A	c.(2335-2337)ggG>ggA	p.G779G	CD163_uc001qta.3_Silent_p.G779G|CD163_uc009zfw.2_Silent_p.G812G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	779	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCAGATGGGCCCTGTTCCTT	0.547000														109			26		0	0	0.000339439	0	0
ITGAE	3682	broad.mit.edu	37	17	3657180	3657180	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:3657180G>A	uc002fwo.4	-	12	1523	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	475					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.S475S(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CGCGATGTAGGAGAGGCTGCA	0.627000														25			7		0	0	8.12818e-05	0	0
FCRL6	343413	broad.mit.edu	37	1	159779934	159779934	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:159779934C>T	uc001fud.4	+	5	979	c.937C>T	c.(937-939)Cct>Tct	p.P313S	FCRL6_uc001fuc.2_Missense_Mutation_p.P320S|FCRL6_uc009wsz.1_Missense_Mutation_p.P218S|FCRL6_uc009wta.3_Missense_Mutation_p.P313S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	313						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TCCTTGGCTTCCTGCGAGCCT	0.517000														77			19		0	0	0.000958276	0	0
TRPV5	56302	broad.mit.edu	37	7	142612698	142612698	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:142612698C>T	uc003wby.1	-	8	1427	c.1163G>A	c.(1162-1164)gGg>gAg	p.G388E		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	388					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G388E(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACCAGCTCCCCCACCAGCCT	0.542000														6			3		0	0	0.00024832	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847231	60847231	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:60847231C>T	uc002yck.1	+	4	511	c.309C>T	c.(307-309)ttC>ttT	p.F103F	OSBPL2_uc002ycl.1_Silent_p.F91F|OSBPL2_uc011aah.1_Silent_p.F11F	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	103					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CTCTGAGCTTCTTGCAGCGGA	0.602000														33			7		0	0	0.000157383	0	0
MXRA5	25878	broad.mit.edu	37	X	3240995	3240995	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:3240995G>A	uc004crg.4	-	4	2888	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	911						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATAAGTGTAGGGGCTGCTGTC	0.483000														25			9		0	0	0.000442599	0	0
ENC1	8507	broad.mit.edu	37	5	73931223	73931223	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:73931223G>A	uc003kdc.4	-	1	2219	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	ENC1_uc011css.2_Missense_Mutation_p.T290I|ENC1_uc021yao.1_Missense_Mutation_p.T363I	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	363					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCGTGCAGGGTATCATAAAC	0.547000														27			8		0	0	0.000157383	0	0
MTMR14	64419	broad.mit.edu	37	3	9719742	9719742	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:9719742G>A	uc003brz.3	+	9	1048	c.897_splice	c.e9+1	p.Q299_splice	MTMR14_uc003bsa.3_Splice_Site_p.Q299_splice|MTMR14_uc003bsb.3_Splice_Site_p.Q299_splice|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Splice_Site	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	299						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCCAGTATCAGGTGAGGGGCC	0.552000														33			7		0	0	0.000274275	0	0
FLT1	2321	broad.mit.edu	37	13	29004206	29004206	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:29004206G>A	uc001usb.3	-	7	1372	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	FLT1_uc010aar.1_Missense_Mutation_p.P363S|FLT1_uc001usc.3_Missense_Mutation_p.P363S|FLT1_uc010tdp.1_Missense_Mutation_p.P363S	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	363	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCCGGCGAGGGAAATGCCTTC	0.448000														59			21		0	0	0.00047179	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471774	47471774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:47471774C>T	uc001rpm.3	-	2	1667	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.E338K|AMIGO2_uc001rpl.3_Missense_Mutation_p.E338K|AMIGO2_uc021qxg.1_Missense_Mutation_p.E338K	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	338	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TAAAAGTTTTCCATCTCTTTA	0.438000														77			20		0	0	0.000958276	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736566	26736566	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:26736566G>A	uc003acb.3	+	9	2376	c.2180G>A	c.(2179-2181)gGa>gAa	p.G727E	SEZ6L_uc003acd.3_Missense_Mutation_p.G727E|SEZ6L_uc011akd.2_Missense_Mutation_p.G727E|SEZ6L_uc003ace.3_Missense_Mutation_p.G727E|SEZ6L_uc011akc.2_Missense_Mutation_p.G727E|SEZ6L_uc003acc.3_Missense_Mutation_p.G727E|SEZ6L_uc003acf.1_Missense_Mutation_p.G500E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G500E	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	727	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCATCTTTGGAAAGGGCCAG	0.468000														32			10		0	0	0.00185496	0	0
PLK1	5347	broad.mit.edu	37	16	23695351	23695351	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:23695351C>T	uc002dlz.1	+	4	1030	c.977C>T	c.(976-978)tCg>tTg	p.S326L		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	326					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding	p.S326L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAAGGTTTTCGATTGCTCCC	0.547000														77			24		0	0	0.00178596	0	0
CD207	50489	broad.mit.edu	37	2	71058321	71058321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:71058321G>A	uc002shg.3	-	5	894	c.847C>T	c.(847-849)Cca>Tca	p.P283S		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	283	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GGCTCACCTGGAATCCAGAAC	0.433000														34			14		0	0	0.000219431	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024755	203024755	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:203024755C>T	uc009xaj.3	+	20	2400	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PPFIA4_uc010pqf.2_Silent_p.S382S|PPFIA4_uc001gyz.3_Silent_p.S169S|PPFIA4_uc001gza.3_Silent_p.S169S|PPFIA4_uc001gzb.1_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	169					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCTCACCTCCCGCAGTGCTG	0.682000														36			5		0	0	0.000602214	0	0
C9orf131	138724	broad.mit.edu	37	9	35043926	35043926	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:35043926A>G	uc003zvw.3	+	1	1329	c.1300A>G	c.(1300-1302)Aac>Gac	p.N434D	C9orf131_uc003zvu.3_Missense_Mutation_p.N386D|C9orf131_uc003zvv.3_Missense_Mutation_p.N361D|C9orf131_uc003zvx.3_Missense_Mutation_p.N399D	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	434										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTTGGACCTCAACCCAGAGCT	0.507000														35			13		0	0	0.000308642	0	0
CDKL5	6792	broad.mit.edu	37	X	18622217	18622217	+	Silent	SNP	G	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:18622217G>T	uc004cym.3	+	11	1426	c.1173G>T	c.(1171-1173)ggG>ggT	p.G391G	CDKL5_uc004cyn.3_Silent_p.G391G|CDKL5_uc022btn.1_Silent_p.G382G	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	391					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCCAGCCTGGGTCTACCAGCA	0.453000														20			21		4.96729e-08	2.78309e-07	0.00121646	1	0
AJAP1	55966	broad.mit.edu	37	1	4832501	4832501	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:4832501G>A	uc001alm.1	+	3	1460	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	AJAP1_uc001aln.3_Missense_Mutation_p.C360Y	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	360	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCTCACGAGTGCGTCAGGGCA	0.592000														6			6		0	0	0.00116845	0	0
TUBAL3	79861	broad.mit.edu	37	10	5442975	5442975	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:5442975C>T	uc001ihy.3	-	1	117	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	TUBAL3_uc001ihz.3_Intron	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	27					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ATTCCATGTTCCAGGCAATAG	0.473000														30			22		0	0	0.00152264	0	0
KRT74	121391	broad.mit.edu	37	12	52967381	52967381	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52967381A>G	uc001sap.1	-	0	229	c.181T>C	c.(181-183)Ttc>Ctc	p.F61L		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	61	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCACATTGAAAGAAATACGC	0.612000														18			4		0	0	0.00024832	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282763	47282763	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:47282763G>A	uc001cqn.4	+	8	1201	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	CYP4B1_uc001cqm.4_Missense_Mutation_p.E372K|CYP4B1_uc009vym.3_Missense_Mutation_p.E358K|CYP4B1_uc010omk.2_Missense_Mutation_p.E209K	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	372					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTGCATCAAGGAGAGCTTCCG	0.552000														45			11		0	0	0.00136819	0	0
TLR5	7100	broad.mit.edu	37	1	223285504	223285504	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:223285504C>T	uc021pjl.1	-	0	870	c.870G>A	c.(868-870)gtG>gtA	p.V290V	TLR5_uc001hnv.2_Silent_p.V290V|TLR5_uc001hnw.2_Silent_p.V290V	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	290					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCAGGTGTCTCACTGAACTTC	0.478000														50			8		0	0	0.000274275	0	0
TAAR5	9038	broad.mit.edu	37	6	132910798	132910798	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:132910798C>T	uc003qdk.2	-	0	80	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	10					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGGTGCTCTTCAGCACCTTGG	0.493000														19			6		0	0	0.000157383	0	0
ACSM5	54988	broad.mit.edu	37	16	20448487	20448487	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:20448487G>A	uc002dhe.3	+	10	1569	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	474					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACGACGATGTGATCAATTCTT	0.478000														70			19		0	0	0.000720815	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3639001	3639001	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:3639001G>A	uc002lyj.2	-	15	1890	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	PIP5K1C_uc010xhq.2_Missense_Mutation_p.P601S|PIP5K1C_uc010xhr.2_Missense_Mutation_p.P601S	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	601					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCACCGGCCGGGGAAGCCTCC	0.692000														35			5		0	0	8.12818e-05	0	0
CA6	765	broad.mit.edu	37	1	9009336	9009336	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:9009336G>A	uc001apm.3	+	1	118	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	32					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACTGGACGAAGCGCACTG	0.627000														10			6		0	0	0.000157383	0	0
PDE8B	8622	broad.mit.edu	37	5	76633115	76633115	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:76633115G>A	uc003kfa.3	+	5	817	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	PDE8B_uc003kfd.3_Missense_Mutation_p.E258K|PDE8B_uc003kfe.3_Missense_Mutation_p.E258K|PDE8B_uc003kfb.3_Missense_Mutation_p.E238K|PDE8B_uc003kfc.3_Missense_Mutation_p.E258K	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	258					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AGAACATGGGGAAGTTCGCTC	0.333000														187			40		0	0	0.000781405	0	0
C2orf78	388960	broad.mit.edu	37	2	74044065	74044065	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:74044065C>T	uc002sjr.1	+	2	2836	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	905										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCAGTTTTTCATTGAAAGGG	0.443000														10			5		0	0	0.000602214	0	0
MYO16	23026	broad.mit.edu	37	13	109661278	109661278	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:109661278C>T	uc010agk.2	+	21	3098	c.2476C>T	c.(2476-2478)Cac>Tac	p.H826Y	MYO16_uc001vqt.1_Missense_Mutation_p.H804Y|MYO16_uc001vqu.1_Missense_Mutation_p.H604Y|MYO16_uc010tjh.1_Missense_Mutation_p.H316Y	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	804					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAAGATGCACCACTATATCAA	0.403000														29			10		0	0	0.000673444	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535765	43535765	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:43535765G>A	uc002ija.3	-	5	1519	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	PLEKHM1_uc010wjm.2_Missense_Mutation_p.P422L|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.P399L|PLEKHM1_uc002ijc.3_Intron	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	450					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTCCCGGGAAGGCCGGTAGAA	0.483000														18			7		0	0	8.12818e-05	0	0
BTNL8	79908	broad.mit.edu	37	5	180377220	180377220	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:180377220C>T	uc003mmp.3	+	7	1413	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.P268P|BTNL8_uc010jlm.3_Silent_p.P277P|BTNL8_uc011dhh.2_Silent_p.P209P	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	393	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATTAAATCCCCGTTTTATCA	0.468000														14			11		0	0	0.000673444	0	0
ZHX2	22882	broad.mit.edu	37	8	123965415	123965415	+	Silent	SNP	C	T	T	rs145887684	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:123965415C>T	uc022bag.1	+	0	1665	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	ZHX2_uc003ypk.1_Silent_p.T555T	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	555						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTTTCCTACCCAAGCAGAAC	0.498000														33			9		0	0	0.000673444	0	0
NOS1	4842	broad.mit.edu	37	12	117660592	117660592	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:117660592G>A	uc001twn.2	-	26	4716	c.4005C>T	c.(4003-4005)acC>acT	p.T1335T	NOS1_uc021ren.1_Silent_p.T965T|NOS1_uc021reo.1_Silent_p.T965T|NOS1_uc001twm.2_Silent_p.T1301T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1301					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGCCTGCAGGGTCTCTTCCC	0.577000														43			22		0	0	0.000375601	0	0
MIA3	375056	broad.mit.edu	37	1	222803275	222803275	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:222803275C>T	uc001hnl.3	+	3	2722	c.2713C>T	c.(2713-2715)Cac>Tac	p.H905Y	MIA3_uc009xea.1_Missense_Mutation_p.H741Y	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	905					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGACTCGTTCCACTGGACTCC	0.483000														229			38		0	0	0.00128727	0	0
MNDA	4332	broad.mit.edu	37	1	158815426	158815426	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:158815426C>T	uc001fsz.1	+	4	820	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	207	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.P207S(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGAAATGTTCCCCAAAACGAC	0.468000														21			7		0	0	8.12818e-05	0	0
ACSM4	341392	broad.mit.edu	37	12	7476100	7476100	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:7476100G>A	uc001qsx.1	+	8	1252	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	418					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAAAGAAGGGGAAATTGCCCT	0.373000														42			14		0	0	0.000308642	0	0
SLC43A1	8501	broad.mit.edu	37	11	57254631	57254631	+	Silent	SNP	G	A	A	rs142620907	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:57254631G>A	uc001nkk.3	-	13	1588	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	SLC43A1_uc001nkl.3_Silent_p.F490F	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	490					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGCAAGGCGAACACAGCAC	0.612000														16			7		0	0	0.000274275	0	0
CD1A	909	broad.mit.edu	37	1	158226832	158226833	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:158226832_158226833CC>TT	uc001frt.3	+	3	1394_1395	c.861_862CC>TT	c.(859-864)ggccag>ggTTag	p.Q288*	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	288	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.G287V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTCTAGAGGGCCAGGACATCGT	0.584000														33			6		0	0	6.4e-05	0	0
SELE	6401	broad.mit.edu	37	1	169697037	169697037	+	Silent	SNP	C	T	T	rs144324234	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:169697037C>T	uc001ggm.4	-	8	1468	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	437	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCAAACCCTTCGGGGGCTGGT	0.488000														45			12		0	0	0.000978159	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402628	136402628	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:136402628G>A	uc011mdl.2	+	2	749	c.192G>A	c.(190-192)ggG>ggA	p.G64G	ADAMTSL2_uc004cei.3_Silent_p.G64G	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	64	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGTTGCGGGGGTGGGGTGA	0.677000														28			12		0	0	0.00185496	0	0
GJD2	57369	broad.mit.edu	37	15	35044924	35044924	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:35044924C>T	uc001zis.1	-	1	721	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	241					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ACATAACATTCCACCTCCTTG	0.483000														19			5		0	0	0.000602214	0	0
F13B	2165	broad.mit.edu	37	1	197029651	197029651	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:197029651C>T	uc001gtt.1	-	4	694	c.650G>A	c.(649-651)aGa>aAa	p.R217K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	217	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCAATTAATCTTAAAGAAGA	0.274000														41			5		0	0	0.00116845	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:22382594G>A	uc001yuc.1	+	6	1103	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000														264			21		0	0	0.00188189	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257039	69257039	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:69257039G>A	uc021rve.1	-	2	529	c.435C>T	c.(433-435)gcC>gcT	p.A145A	ZFP36L1_uc001xki.2_Silent_p.A76A|ZFP36L1_uc001xkh.2_Silent_p.A76A	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	76					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P77fs*67(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCAGAGCGGGGGCTGGCTCAC	0.701000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			5		0	0	0.00116845	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687530	130687530	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:130687530C>T	uc011mao.2	-	8	818	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	PIP5KL1_uc004bsu.3_Missense_Mutation_p.R55Q	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	258	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GAACCAGCTCCGCTGGGGCCC	0.617000														21			7		0	0	8.12818e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9069926	9069926	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:9069926G>A	uc002mkp.3	-	2	17724	c.17520C>T	c.(17518-17520)tcC>tcT	p.S5840S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5842	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						TGGTTTCTGTGGAGATGTAGG	0.473000														58			22		0	0	0.000375601	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921271	12921271	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:12921271C>T	uc001aum.1	+	3	1149	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	354										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGAGACCCTCGTGTTAGAGG	0.537000														62			31		0	0	0.00178596	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324854	150324854	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150324854C>T	uc022apv.1	-	2	1522	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	GIMAP6_uc003whn.3_Missense_Mutation_p.E278K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	278							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCAGATTCCTTCTGGATC	0.572000														36			9		0	0	0.00136819	0	0
KCNH1	3756	broad.mit.edu	37	1	210857430	210857430	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:210857430C>T	uc001hib.2	-	10	2333	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	KCNH1_uc001hic.2_Missense_Mutation_p.M694I	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	721	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTTCGTTTCATGCGTTCTT	0.562000														36			10		0	0	0.00185496	0	0
SGCD	6444	broad.mit.edu	37	5	156184689	156184689	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:156184689C>T	uc003lwc.4	+	7	1192	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SGCD_uc003lwb.3_Silent_p.L225L|SGCD_uc003lwd.4_Silent_p.L224L	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	224					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGACAGAGCTGAGACTGGA	0.522000														98			19		0	0	0.00152264	0	0
MOG	4340	broad.mit.edu	37	6	29627155	29627155	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:29627155G>A	uc003nnf.3	+	1	377	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	MOG_uc003qzk.2_Missense_Mutation_p.E50K|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.E50K|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.E50K|MOG_uc003nng.3_Missense_Mutation_p.E50K|MOG_uc003nni.3_Missense_Mutation_p.E50K|MOG_uc003nnh.3_Missense_Mutation_p.E50K|MOG_uc003nnj.3_Missense_Mutation_p.E50K|MOG_uc003nnk.3_Missense_Mutation_p.E50K	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	50	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGATGAAGTGGAATTGCCATG	0.542000														105			21		0	0	0.00188189	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576270	158576270	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:158576270C>T	uc010pio.2	+	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATTTTGTCTTCCTGGGCTTCT	0.473000														52			13		0	0	0.00185496	0	0
OR2W3	343171	broad.mit.edu	37	1	248059274	248059274	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:248059274C>T	uc010pzb.2	+	0	386	c.386C>T	c.(385-387)cCc>cTc	p.P129L	OR2W3_uc001idp.1_Missense_Mutation_p.P129L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATCTGCAAGCCCCTGCACTAC	0.612000														34			13		0	0	0.00185496	0	0
PRPF40A	55660	broad.mit.edu	37	2	153527837	153527837	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:153527837G>A	uc002tyh.4	-	13	1451	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	PRPF40A_uc002tyg.4_5'Flank|PRPF40A_uc010zcd.1_Missense_Mutation_p.R424C	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	504	FF 2.				RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATTTCAAGACGATCACGTTCT	0.264000														85			20		0	0	0.000720815	0	0
HTR5A	3361	broad.mit.edu	37	7	154876080	154876080	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:154876080G>A	uc003wlu.1	+	1	1021	c.957G>A	c.(955-957)tgG>tgA	p.W319*		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	319						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCGCCATCTGGAAAAGCATCT	0.522000														70			22		0	0	0.000295444	0	0
MLF2	8079	broad.mit.edu	37	12	6859416	6859416	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:6859416G>A	uc010sfi.2	-	5	389	c.326C>T	c.(325-327)tCc>tTc	p.S109F	MLF2_uc001qqp.3_Missense_Mutation_p.S109F|MLF2_uc009zey.1_Missense_Mutation_p.S109F	NM_005439	NP_005430	Q15773	MLF2_HUMAN	Homo sapiens myeloid leukemia factor 2 (MLF2), transcript variant 1, mRNA.	109					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						ATTGGAGTAGGAGATGACAGT	0.587000														63			10		0	0	0.000673444	0	0
GABRE	2564	broad.mit.edu	37	X	151124307	151124307	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:151124307G>A	uc004ffi.3	-	6	864	c.810C>T	c.(808-810)ttC>ttT	p.F270F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	270					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCACATTGAAGAAAATCGTCA	0.473000														18			14		0	0	0.000958276	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945140	22945140	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:22945140G>A	uc001yus.3	+	11	1315	c.1211G>A	c.(1210-1212)tGg>tAg	p.W404*	CYFIP1_uc001yut.3_Nonsense_Mutation_p.W404*|CYFIP1_uc010aya.1_Nonsense_Mutation_p.W432*	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	404					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTGTCGCAGTGGAGCGCGCAC	0.647000														16			5		0	0	0.00116845	0	0
OR8K3	219473	broad.mit.edu	37	11	56086125	56086125	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:56086125C>T	uc010rjf.2	+	0	343	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACTTTTTATTCTCTCAGCCAT	0.388000														57			18		0	0	0.000566183	0	0
COL12A1	1303	broad.mit.edu	37	6	75801104	75801104	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:75801104C>T	uc021zbv.1	-	61	8721	c.8686_splice	c.e61-1	p.G2896_splice	COL12A1_uc021zbw.1_Splice_Site_p.G1732_splice|COL12A1_uc003phs.3_Splice_Site_p.G2896_splice|COL12A1_uc003pht.3_Splice_Site_p.G1732_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2896	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCAATGTCTCCCTTGTTGAA	0.299000														59			9		0	0	0.000442599	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152864	233152864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:233152864G>A	uc001hvl.2	-	26	4877	c.4642C>T	c.(4642-4644)Ctc>Ttc	p.L1548F	PCNXL2_uc001hvk.1_Missense_Mutation_p.L200F|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1548						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATCCAGGAGAGGAGTTTGGGA	0.368000														75			20		0	0	0.00121646	0	0
OR6A2	8590	broad.mit.edu	37	11	6816325	6816325	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:6816325G>A	uc001mes.1	-	0	815	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCCAGGATGAAATCTGTAA	0.493000														55			18		0	0	0.00121646	0	0
DOCK8	81704	broad.mit.edu	37	9	332409	332409	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:332409C>T	uc003zgf.2	+	9	1168	c.1056C>T	c.(1054-1056)gtC>gtT	p.V352V	DOCK8_uc011lls.1_Silent_p.V352V|DOCK8_uc022bcu.1_Silent_p.V284V|DOCK8_uc010mgv.3_Silent_p.V284V|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Silent_p.V284V|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	352	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTGAAAAAGTCCTGCAGCAGG	0.348000														9			5		0	0	0.00116845	0	0
ZNF674	641339	broad.mit.edu	37	X	46359367	46359367	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:46359367A>G	uc004dgr.3	-	5	1884	c.1657T>C	c.(1657-1659)Tat>Cat	p.Y553H	ZNF674_uc011mlg.2_Missense_Mutation_p.Y547H|ZNF674_uc022bvl.1_Missense_Mutation_p.Y548H	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						CTGCATTCATAAGGTTTCTCT	0.398000														6			4		0	0	0.000602214	0	0
CASR	846	broad.mit.edu	37	3	122002676	122002676	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:122002676C>T	uc003eew.4	+	6	2343	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CASR_uc003eev.4_Silent_p.F625F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	625					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGGCATTTTCCTGACAGCCT	0.552000														32			10		0	0	0.000673444	0	0
FCRL4	83417	broad.mit.edu	37	1	157556060	157556060	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:157556060C>T	uc001fqw.3	-	5	1169	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	345	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCAGGGAGCTCCAGCTCTGCT	0.577000														47			10		0	0	0.000673444	0	0
TRPM2	7226	broad.mit.edu	37	21	45815418	45815418	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:45815418G>A	uc010gpt.1	+	11	2016	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	TRPM2_uc002zet.1_Missense_Mutation_p.G639E|TRPM2_uc002zeu.1_Missense_Mutation_p.G639E|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G639E|TRPM2_uc002zex.1_Missense_Mutation_p.G425E|TRPM2_uc002zey.1_Missense_Mutation_p.G152E	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	639						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGCTGGCAGGAATCATCTGG	0.577000														53			18		0	0	0.000958276	0	0
CNTN3	5067	broad.mit.edu	37	3	74350824	74350824	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:74350824G>A	uc003dpm.1	-	13	1999	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	640	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAACCCACGGAGAAAGGTGT	0.453000														30			7		0	0	0.000157383	0	0
NEB	4703	broad.mit.edu	37	2	152404158	152404158	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:152404158G>A	uc021vrb.1	-	102	15178	c.15149C>T	c.(15148-15150)gCt>gTt	p.A5050V	NEB_uc002txr.3_Missense_Mutation_p.A1516V|NEB_uc002txu.3_Missense_Mutation_p.A6751V|NEB_uc021vrc.1_Missense_Mutation_p.A6751V|NEB_uc010fnx.3_Missense_Mutation_p.A5038V|NEB_uc021vrd.1_Missense_Mutation_p.A5050V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5050					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCACTGACAGCCTCTTGTGT	0.428000														15			5		0	0	8.12818e-05	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492217	85492217	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:85492217C>T	uc001tac.3	+	11	3083	c.2972C>T	c.(2971-2973)cCt>cTt	p.P991L	LRRIQ1_uc021rbo.1_Missense_Mutation_p.P869L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	991										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTGATACACCTACCATTGTA	0.328000														32			11		0	0	0.000978159	0	0
OR4K14	122740	broad.mit.edu	37	14	20483005	20483005	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:20483005C>T	uc010tky.2	-	0	348	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCATGGAAACCAGGAGCACCA	0.463000														37			8		0	0	0.000274275	0	0
SELM	140606	broad.mit.edu	37	22	31501034	31501034	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:31501034G>A	uc021wnx.1	-	4	420	c.360C>T	c.(358-360)ccC>ccT	p.P120P	INPP5J_uc010gwf.3_5'Flank	NM_080430	NP_536355	Q8WWX9	SELM_HUMAN	Homo sapiens selenoprotein M (SELM), mRNA.	120						Golgi apparatus|endoplasmic reticulum|nucleus|perinuclear region of cytoplasm		p.A119T(1)		lung(1)|skin(1)	2						CCTGCGCGTCGGGCGCCGCCT	0.692000														17			8		0	0	0.000157383	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				79			274		0	0	0.000781405	0	0
OR2A25	392138	broad.mit.edu	37	7	143771522	143771522	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:143771522C>T	uc011ktx.2	+	0	210	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCGTCGACATCGCCTGTGCTT	0.572000														24			8		0	0	0.000673444	0	0
TPK1	27010	broad.mit.edu	37	7	144245645	144245645	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:144245645G>A	uc003weq.3	-	7	655	c.552C>T	c.(550-552)ggC>ggT	p.G184G	TPK1_uc003weo.3_Silent_p.G130G|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Silent_p.G135G|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	184					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CAGGAATAAGGCCACACCAAT	0.428000														61			22		0	0	0.000720815	0	0
OR2J3	442186	broad.mit.edu	37	6	29080214	29080214	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:29080214G>A	uc011dll.2	+	0	547	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTTTTTCTGTGAAGTTCCAGC	0.463000														37			12		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179648854	179648854	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:179648854G>A	uc021vsy.1	-	15	2943	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	TTN_uc021vsz.1_Silent_p.I860I|TTN_uc021vta.1_Silent_p.I860I|TTN_uc021vtb.1_Silent_p.I860I|TTN_uc002unb.2_Silent_p.I906I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	906							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)			TGGTGCCAGTGATGCTCACCC	0.552000														51			11		0	0	0.00185496	0	0
DEFB121	245934	broad.mit.edu	37	20	29993947	29993947	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:29993947G>A	uc002wvv.2	-	0	123	c.9C>T	c.(7-9)ctC>ctT	p.L3L	DEFB121_uc021wbq.1_Intron	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Homo sapiens defensin, beta 121 (DEFB121), transcript variant 1, mRNA.	3					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGAAGAAGGAGCTTCATGA	0.488000														27			7		0	0	0.000157383	0	0
RGS22	26166	broad.mit.edu	37	8	101014533	101014533	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:101014533C>T	uc003yjb.1	-	17	2882	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	RGS22_uc003yja.1_Missense_Mutation_p.R715Q|RGS22_uc003yjc.1_Missense_Mutation_p.R884Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R285Q|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	896	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.D895Y(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTTTGATTTCGATCTCTGTA	0.338000														32			5		0	0	0.000602214	0	0
OR52E6	390078	broad.mit.edu	37	11	5862438	5862438	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5862438G>A	uc010qzq.2	-	0	690	c.690C>T	c.(688-690)ccC>ccT	p.P230P	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCAGGAGGGCAGGCAGA	0.433000														25			5		0	0	0.000602214	0	0
KIAA1210	57481	broad.mit.edu	37	X	118239003	118239003	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:118239003C>T	uc004era.4	-	6	1020	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	340										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTGTGGATTCTTAGGTGACT	0.453000														39			31		0	0	0.000491102	0	0
FOLH1	2346	broad.mit.edu	37	11	49179553	49179553	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:49179553C>T	uc001ngy.3	-	13	1744	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	FOLH1_uc009yly.3_Missense_Mutation_p.E480K|FOLH1_uc009ylz.3_Missense_Mutation_p.E480K|FOLH1_uc001ngz.3_Missense_Mutation_p.E495K|FOLH1_uc009yma.3_Missense_Mutation_p.E187K	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	495	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCCAACTTTCATAAAGAGAT	0.348000														50			12		0	0	0.00074312	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968575	21968575	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:21968575T>C	uc002djx.3	+	1	189	c.53T>C	c.(52-54)gTt>gCt	p.V18A		NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	18					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TCCCTCAAAGTTGCCCCCAAA	0.448000														27			8		0	0	0.000442599	0	0
VEGFA	7422	broad.mit.edu	37	6	43746213	43746213	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:43746213C>T	uc003owh.3	+	3	1370	c.872C>T	c.(871-873)cCt>cTt	p.P291L	VEGFA_uc003owd.3_Missense_Mutation_p.P291L|VEGFA_uc010jyx.3_Missense_Mutation_p.P291L|VEGFA_uc003owf.3_Missense_Mutation_p.P291L|VEGFA_uc003owg.3_Missense_Mutation_p.P291L|VEGFA_uc003owe.3_Missense_Mutation_p.P291L|VEGFA_uc021yzu.1_Missense_Mutation_p.P290L|VEGFA_uc003owj.3_Missense_Mutation_p.P291L|VEGFA_uc003owi.3_Missense_Mutation_p.P291L|VEGFA_uc003owk.3_Non-coding_Transcript|VEGFA_uc021yzv.1_Non-coding_Transcript	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	111					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CGGATCAAACCTCACCAAGGC	0.517000														12			4		0	0	0.000602214	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719920	50719920	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:50719920G>A	uc003bkv.4	-	21	3624	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.F162F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1177					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCGAGAGCCGAACTTCACCT	0.687000														23			7		0	0	8.12818e-05	0	0
EYA4	2070	broad.mit.edu	37	6	133834097	133834097	+	Silent	SNP	G	A	A	rs138141986		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:133834097G>A	uc011ecs.2	+	15	1756	c.1440G>A	c.(1438-1440)ggG>ggA	p.G480G	EYA4_uc011ecq.2_Silent_p.G420G|EYA4_uc011ecr.2_Silent_p.G426G|EYA4_uc003qec.4_Silent_p.G474G|EYA4_uc003qed.4_Silent_p.G474G|EYA4_uc003qee.4_Silent_p.G451G|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	474					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAAGAGGAGGGGTTGACTGGA	0.418000														17			4		0	0	0.00024832	0	0
HAUS1	115106	broad.mit.edu	37	18	43685196	43685196	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:43685196C>T	uc002lbu.3	+	1	147	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ATP5A1_uc002lbt.1_5'Flank|HAUS1_uc002lbv.3_5'UTR	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	23					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TGGAGATCATCCTATTCCACA	0.403000														23			6		0	0	8.12818e-05	0	0
CACNA1S	779	broad.mit.edu	37	1	201052414	201052414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:201052414C>T	uc001gvv.3	-	9	1496	c.1269G>A	c.(1267-1269)tgG>tgA	p.W423*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	423					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CATGGCACTTCCAGCGAAAGA	0.557000														55			16		0	0	0.000422831	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975960	7975960	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:7975960C>T	uc002mit.3	+	6	836	c.771C>T	c.(769-771)atC>atT	p.I257I	MAP2K7_uc002miv.2_Silent_p.I257I|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.I132I|MAP2K7_uc010xkb.2_Silent_p.I257I	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	257	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGGGCCAGATCAAGCTCTGCG	0.642000														12			5		0	0	8.12818e-05	0	0
CR2	1380	broad.mit.edu	37	1	207648331	207648331	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:207648331G>A	uc001hfw.3	+	12	2428	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E	CR2_uc001hfv.3_Missense_Mutation_p.G829E|CR2_uc009xch.3_Missense_Mutation_p.G770E	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	770	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AAAGGACATGGATCTTGGAGC	0.438000														73			7		0	0	8.12818e-05	0	0
TF	7018	broad.mit.edu	37	3	133497452	133497452	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:133497452C>T	uc003epu.2	+	21	3813	c.2085C>T	c.(2083-2085)ttC>ttT	p.F695F	TF_uc011blt.2_Silent_p.F568F|TF_uc003epw.2_Silent_p.F134F|TF_uc003epv.2_Silent_p.F695F	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	695					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCTGCACTTTCCGTAGACCTT	0.463000														29			5		0	0	0.000602214	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703815	187703815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:187703815C>T	uc002upu.1	-	3	405	c.365G>A	c.(364-366)gGa>gAa	p.G122E		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	122					apoptosis		zinc ion binding	p.P121Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTCATTTGTTCCTGGTTGGGG	0.403000														99			32		0	0	0.000339439	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108955898	108955898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:108955898C>T	uc001vqr.3	+	4	958	c.691C>T	c.(691-693)Cga>Tga	p.R231*	TNFSF13B_uc010agj.3_Nonsense_Mutation_p.R212*|5S_rRNA_uc021rmm.1_5'Flank	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B), transcript variant 1, mRNA.	231					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GACTTTGTTTCGATGTATTCA	0.383000														52			16		0	0	0.000566183	0	0
GRIK5	2901	broad.mit.edu	37	19	42563645	42563645	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:42563645G>A	uc002osj.1	-	4	578	c.543C>T	c.(541-543)ttC>ttT	p.F181F	GRIK5_uc010eib.1_Silent_p.F100F	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	181						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGGAGATGAGGAAGCCACGCA	0.607000														13			10		0	0	0.000978159	0	0
PMVK	10654	broad.mit.edu	37	1	154901531	154901531	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:154901531T>G	uc001ffq.3	-	2	604	c.281A>C	c.(280-282)aAg>aCg	p.K94T		NM_006556	NP_006547	Q15126	PMVK_HUMAN	Homo sapiens phosphomevalonate kinase (PMVK), mRNA.	94					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACAATCTTCCTGCAAAA	0.562000														57			20		0	0	0.00152264	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296076	233296076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:233296076G>A	uc001hvl.2	-	18	3705	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1157						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AATGGGGTGTGAAATCCACAT	0.443000														45			10		0	0	0.00136819	0	0
FAM13A	10144	broad.mit.edu	37	4	89653209	89653209	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:89653209T>A	uc003hse.1	-	21	2995	c.2787A>T	c.(2785-2787)aaA>aaT	p.K929N	FAM13A_uc011cdp.1_Missense_Mutation_p.K31N|FAM13A_uc003hsa.1_Missense_Mutation_p.K372N|FAM13A_uc003hsb.1_Missense_Mutation_p.K603N|FAM13A_uc003hsd.1_Missense_Mutation_p.K575N|FAM13A_uc003hsc.1_Missense_Mutation_p.K589N|FAM13A_uc011cdq.1_Missense_Mutation_p.K575N|FAM13A_uc003hsf.1_Missense_Mutation_p.K515N|FAM13A_uc003hsg.1_Missense_Mutation_p.K372N	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	929					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTGATGGTATTTTATCATCCA	0.418000														22			12		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82583809	82583809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:82583809G>A	uc003uhx.2	-	4	6749	c.6460C>T	c.(6460-6462)Caa>Taa	p.Q2154*	PCLO_uc003uhv.2_Nonsense_Mutation_p.Q2154*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2085					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTATCTCTTGAATTTCTCTT	0.408000														46			10		0	0	0.000978159	0	0
DSP	1832	broad.mit.edu	37	6	7580074	7580074	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:7580074G>A	uc003mxp.1	+	22	3930	c.3651G>A	c.(3649-3651)acG>acA	p.T1217T	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Silent_p.T1217T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1217	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAACATTACGAAGACCACCA	0.368000														20			4		0	0	0.00024832	0	0
TCRDV2	0	broad.mit.edu	37	14	22933244	22933244	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:22933244G>A	uc010tms.2	+	3	565	c.359G>A	c.(358-360)gGg>gAg	p.G120E	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron|TCRDV2_uc001wdx.4_Missense_Mutation_p.G120E|TCRDV2_uc010aju.1_3'UTR|TCRDV2_uc001wea.4_Missense_Mutation_p.G145E					RecName: Full=T-cell receptor delta chain C region;																		ACAGTGCTTGGGCTACGAATG	0.433000														17			9		0	0	0.00136819	0	0
GRM7	2917	broad.mit.edu	37	3	7721964	7721964	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:7721964G>A	uc003bqm.2	+	8	2954	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E894K|GRM7_uc003bql.2_Missense_Mutation_p.E894K|GRM7_uc003bqn.1_Missense_Mutation_p.E477K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	894					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.E894A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CGAGCTCTGTGAAAACGTAGA	0.527000														20			5		0	0	0.000602214	0	0
GPX6	257202	broad.mit.edu	37	6	28473580	28473580	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:28473580C>T	uc021yrx.1	-	4	410	c.360_splice	c.e4-1	p.K120_splice	GPX6_uc010jrg.1_Intron	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	120					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACACACATACCTGCAGTGAAC	0.423000														34			7		0	0	0.000442599	0	0
GUCY2C	2984	broad.mit.edu	37	12	14772205	14772205	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:14772205G>A	uc001rcd.3	-	23	2952	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	939	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGACAATAACGAGGCATCTTG	0.473000														68			19		0	0	0.000586117	0	0
NACA2	342538	broad.mit.edu	37	17	59668251	59668251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:59668251C>T	uc002izj.2	-	0	313	c.291G>A	c.(289-291)tgG>tgA	p.W97*		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	97	NAC-A/B.				protein transport	cytoplasm|nucleus		p.W97*(2)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTAGATTTCCAGATAGTGA	0.448000														113			29		0	0	0.000814825	0	0
SLC28A1	9154	broad.mit.edu	37	15	85451966	85451966	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:85451966G>A	uc002blg.3	+	8	937	c.735G>A	c.(733-735)acG>acA	p.T245T	SLC28A1_uc010upd.1_Silent_p.T167T|SLC28A1_uc010bnb.3_Silent_p.T245T|SLC28A1_uc010upe.2_Silent_p.T245T|SLC28A1_uc010upf.1_Silent_p.T245T|SLC28A1_uc010upg.1_Silent_p.T245T	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	245					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGCTACACGAAGGCTGGCT	0.552000														71			21		0	0	0.00047179	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032225	46032225	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:46032225C>T	uc002zfo.1	+	0	230	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	70	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						TGCCCCAGCCCCCTGCCTGGC	0.657000														28			4		0	0	0.00024832	0	0
FAM5B	57795	broad.mit.edu	37	1	177250323	177250324	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:177250323_177250324CC>TT	uc001glf.3	+	7	2323_2324	c.2011_2012CC>TT	c.(2011-2013)ccc>TTc	p.P671F	FAM5B_uc001glg.3_Missense_Mutation_p.P566F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	671						extracellular region		p.P671H(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GATGACTGATCCCTCTAAGAAT	0.460000														63			14		0	0	6.4e-05	0	0
FBXO40	51725	broad.mit.edu	37	3	121345715	121345715	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:121345715C>T	uc003eeg.2	+	3	2298	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	696					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGAGCTTAGTCTCCACCTTTA	0.478000														39			6		0	0	8.12818e-05	0	0
KLHL13	90293	broad.mit.edu	37	X	117032951	117032951	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:117032951G>A	uc011mtp.2	-	7	2030	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	KLHL13_uc004eqk.3_Missense_Mutation_p.R579C|KLHL13_uc004eql.3_Missense_Mutation_p.R630C|KLHL13_uc011mtn.2_Missense_Mutation_p.R470C|KLHL13_uc011mto.2_Missense_Mutation_p.R624C|KLHL13_uc011mtq.2_Missense_Mutation_p.R614C|KLHL13_uc004eqm.3_Missense_Mutation_p.R588C|KLHL13_uc022cde.1_Missense_Mutation_p.R614C	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	630					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTGCAAGCACGAATGCCACCA	0.418000														19			16		0	0	0.00074312	0	0
IL13RA2	3598	broad.mit.edu	37	X	114239877	114239877	+	Splice_Site	SNP	A	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:114239877A>C	uc004epx.3	-	9	1123	c.998_splice	c.e9-1	p.G333_splice	IL13RA2_uc010nqd.1_Splice_Site_p.G333_splice	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	333	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						ATAGGTCTTCACCTAGGATTA	0.348000														7			10		0	0	0.000673444	0	0
KRT6A	3853	broad.mit.edu	37	12	52886863	52886863	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52886863G>A	uc001sam.3	-	0	319	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	37	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGACACGGAGACGCTGCT	0.662000														39			15		0	0	0.000308642	0	0
SFTPB	6439	broad.mit.edu	37	2	85892448	85892448	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:85892448C>T	uc002sqj.3	-	6	772	c.672G>A	c.(670-672)agG>agA	p.R224R	SFTPB_uc002sqi.3_Silent_p.R224R|SFTPB_uc002sqh.3_Silent_p.R224R	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	212	Saposin B-type 2.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGATCAGAGCCCTGCAGAGCC	0.597000														88			17		0	0	0.00121646	0	0
SLFN13	146857	broad.mit.edu	37	17	33767892	33767892	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:33767892G>A	uc002hjk.1	-	3	2746	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	SLFN13_uc010wch.1_Missense_Mutation_p.P806S|SLFN13_uc002hjl.2_Missense_Mutation_p.P806S|SLFN13_uc002hjm.2_Missense_Mutation_p.P475S|SLFN13_uc010ctt.2_Missense_Mutation_p.P488S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	806						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACATCCTTTGGAGAATAGCCC	0.448000														34			14		0	0	0.000219431	0	0
ABHD5	51099	broad.mit.edu	37	3	43753208	43753208	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:43753208C>T	uc003cmx.3	+	3	624	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	172					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CAGGGTTAATCATCTCATTTT	0.393000														47			7		0	0	8.12818e-05	0	0
ANGPT1	284	broad.mit.edu	37	8	108296931	108296931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:108296931C>T	uc003ymn.3	-	6	1652	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	ANGPT1_uc011lhv.2_Missense_Mutation_p.G195E|ANGPT1_uc003ymo.3_Missense_Mutation_p.G394E|ANGPT1_uc003ymp.4_Missense_Mutation_p.G194E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	395	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTTTCATTTCCTATGTGGAA	0.378000														38			6		0	0	0.000157383	0	0
SYT16	83851	broad.mit.edu	37	14	62547953	62547953	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:62547953G>A	uc001xfu.1	+	3	1592	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_Missense_Mutation_p.M23I	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	465										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAGGGGAAATGAAAGTGACTC	0.498000														24			4		0	0	0.000602214	0	0
IPO5	3843	broad.mit.edu	37	13	98637698	98637698	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:98637698C>T	uc001vne.3	+	5	429	c.249C>T	c.(247-249)ctC>ctT	p.L83L	IPO5_uc001vnf.1_Silent_p.L65L|IPO5_uc010tik.1_Silent_p.L65L|IPO5_uc010til.1_Silent_p.L5L	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	65	Importin N-terminal.				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CCGCCGTTCTCCTAAGACGTC	0.388000														71			23		0	0	0.000720815	0	0
MCHR2	84539	broad.mit.edu	37	6	100390896	100390896	+	Silent	SNP	C	T	T	rs140465249	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:100390896C>T	uc003pqh.1	-	3	831	c.516G>A	c.(514-516)tcG>tcA	p.S172S	MCHR2_uc003pqi.1_Silent_p.S172S	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	172						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y171H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATGACCTTCGAGTAGACCC	0.448000														54			11		0	0	0.000673444	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917697	54917697	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:54917697C>T	uc001sgc.4	+	19	2192	c.2113C>T	c.(2113-2115)Cct>Tct	p.P705S	NCKAP1L_uc010sox.2_Missense_Mutation_p.P247S|NCKAP1L_uc010soy.2_Missense_Mutation_p.P655S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	705					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACTATCTTCCCTTCTGAGTA	0.443000														43			14		0	0	0.000308642	0	0
AK057473	0	broad.mit.edu	37	17	20805643	20805643	+	RNA	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:20805643G>A	uc002gyg.1	+	3		c.827G>A			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		AGACGACGACGAAGTCTCCCA	0.557000														39			9		0	0	0.000274275	0	0
DBC1	1620	broad.mit.edu	37	9	121929936	121929936	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:121929936T>C	uc004bkc.2	-	7	2168	c.1712A>G	c.(1711-1713)cAt>cGt	p.H571R		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	571					cell cycle arrest|cell death	cytoplasm	protein binding	p.H571Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCCCTCCGAATGGCTCCCGCT	0.552000														16			12		0	0	0.00136819	0	0
OR4C12	283093	broad.mit.edu	37	11	50003858	50003858	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:50003858G>A	uc010ria.2	-	0	214	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F60F(2)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTGGGTCAGGAAGAAGTACA	0.408000														40			6		0	0	0.000157383	0	0
NRXN1	9378	broad.mit.edu	37	2	50724774	50724774	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:50724774G>A	uc021vhh.1	-	12	3497	c.2576C>T	c.(2575-2577)tCt>tTt	p.S859F	NRXN1_uc002rxb.4_Missense_Mutation_p.S531F|NRXN1_uc021vhg.1_Missense_Mutation_p.S899F|NRXN1_uc021vhi.1_Missense_Mutation_p.S895F|NRXN1_uc021vhj.1_Missense_Mutation_p.S855F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	859	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGGACAGAAGAAAGATACCG	0.418000														25			8		0	0	0.000274275	0	0
FBN2	2201	broad.mit.edu	37	5	127800563	127800563	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:127800563C>T	uc003kuu.3	-	5	1119	c.680G>A	c.(679-681)gGg>gAg	p.G227E	FBN2_uc003kuv.2_Missense_Mutation_p.G194E|FBN2_uc003kuw.4_Missense_Mutation_p.G227E	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	227	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTCAGCTGCCCTTGGCACAT	0.532000														30			15		0	0	0.000422831	0	0
UBASH3A	53347	broad.mit.edu	37	21	43862599	43862599	+	Silent	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:43862599A>G	uc002zbe.3	+	11	1608	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	UBASH3A_uc002zbf.3_Silent_p.E470E|UBASH3A_uc010gpe.3_Silent_p.E470E|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	508	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TACGAGTGGAACCTGGAATCT	0.413000														72			17		0	0	0.000422831	0	0
CES4A	283848	broad.mit.edu	37	16	67029701	67029701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:67029701G>A	uc002eqv.3	+	1	413	c.298G>A	c.(298-300)Gga>Aga	p.G100R	CES4A_uc010vix.2_Missense_Mutation_p.G77R|CES4A_uc002eqw.3_Missense_Mutation_p.G37R	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	77						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GCCCTGGAAAGGAATCAGAGA	0.587000														33			7		0	0	0.000157383	0	0
XIRP2	129446	broad.mit.edu	37	2	168105599	168105599	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:168105599C>T	uc002udx.3	+	8	7786	c.7697C>T	c.(7696-7698)tCt>tTt	p.S2566F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S2391F|XIRP2_uc010fpq.3_Missense_Mutation_p.S2344F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2391					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGAGAGTTCTTACTACAAC	0.318000														66			21		0	0	0.00188189	0	0
SRCAP	10847	broad.mit.edu	37	16	30731619	30731619	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:30731619C>T	uc002dze.1	+	18	3339	c.2954C>T	c.(2953-2955)cCc>cTc	p.P985L	SRCAP_uc021tgn.1_Missense_Mutation_p.P985L|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P842L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	985	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P984P(3)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GACCCCCCACCCCGGCCCAAG	0.572000														82			27		0	0	0.000491102	0	0
OSMR	9180	broad.mit.edu	37	5	38919026	38919026	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:38919026C>T	uc003jln.2	+	10	1849	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	483	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGTTCAGAGCTCCATTCCAT	0.423000														27			10		0	0	0.000673444	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888793	136888793	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:136888793C>T	uc003qhc.3	-	25	4098	c.3737G>A	c.(3736-3738)gGa>gAa	p.G1246E	MAP3K5_uc011edj.2_Missense_Mutation_p.G493E|MAP3K5_uc011edk.1_Missense_Mutation_p.G1092E	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1246					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCATCCTTCCAAGCTGTAC	0.438000														20			6		0	0	0.00116845	0	0
MUC2	4583	broad.mit.edu	37	11	1087492	1087492	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:1087492C>T	uc001lsx.1	+	23	3270	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1081						inner mucus layer|outer mucus layer	protein binding			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)	ACTCGTGCTCCTGTGACACGG	0.657000														19			6		0	0	8.12818e-05	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410911	59410911	+	Silent	SNP	A	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:59410911A>T	uc003xtm.4	-	1	261	c.198T>A	c.(196-198)gtT>gtA	p.V66V		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	66					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGCAGGTAAAAACATGACCAT	0.388000									Neonatal Giant Cell Hepatitis					65			14		0	0	0.000422831	0	0
LBR	3930	broad.mit.edu	37	1	225591097	225591097	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:225591097G>A	uc001hoy.3	-	13	1930	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_uc001hoz.3_Missense_Mutation_p.R586C	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	586					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TACTCGTCACGAGCTTCTCGG	0.403000														40			15		0	0	0.000308642	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575876	44575876	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:44575876G>A	uc003tlb.3	-	3	1889	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	NPC1L1_uc011kbw.2_Silent_p.F611F|NPC1L1_uc003tlc.3_Silent_p.F611F|NPC1L1_uc003tld.3_Silent_p.F611F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	611					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACGTGACCTGGAACATGCCAG	0.642000														33			10		0	0	0.000978159	0	0
DSTYK	25778	broad.mit.edu	37	1	205138706	205138706	+	Silent	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:205138706A>G	uc001hbw.3	-	2	973	c.909T>C	c.(907-909)ctT>ctC	p.L303L	DSTYK_uc001hbx.3_Silent_p.L303L|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	303						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCTGGCGATAAAGCGGTGATC	0.488000														29			4		0	0	0.000602214	0	0
PRG4	10216	broad.mit.edu	37	1	186276018	186276018	+	Silent	SNP	A	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:186276018A>C	uc001gru.4	+	6	1218	c.1167A>C	c.(1165-1167)gcA>gcC	p.A389A	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.A348A|PRG4_uc009wyl.3_Silent_p.A296A|PRG4_uc009wym.3_Silent_p.A255A|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	389	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAGTCTGCACCCACCACTC	0.637000														33			7		0	0	0.000978159	0	0
SYCP1	6847	broad.mit.edu	37	1	115527431	115527431	+	Missense_Mutation	SNP	G	A	A	rs147186440		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:115527431G>A	uc001efr.3	+	29	2854	c.2645G>A	c.(2644-2646)aGa>aAa	p.R882K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R882K|SYCP1_uc009wgw.3_Missense_Mutation_p.R857K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	882					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.K881fs*21(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAAAAGAGAAAAATGGCC	0.254000														277			14		0	0	0.00074312	0	0
RHOQ	23433	broad.mit.edu	37	2	46770907	46770907	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:46770907G>C	uc002rva.3	+	1	476	c.157G>C	c.(157-159)Ggg>Cgg	p.G53R	AF086285_uc021vgw.1_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	53					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGTCACCGTGGGGGGCAAGCA	0.642000														10			3		0	0	0.00024832	0	0
DSG1	1828	broad.mit.edu	37	18	28934929	28934929	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:28934929G>A	uc002kwp.3	+	14	2982	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	DSG1_uc010xbp.2_Missense_Mutation_p.E283K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	924					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGTAGTGACAGAAAGAGTAAT	0.453000														87			32		0	0	0.001512	0	0
TLL1	7092	broad.mit.edu	37	4	166996152	166996152	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:166996152G>A	uc003irh.2	+	16	2958	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	TLL1_uc011cjn.2_Missense_Mutation_p.E794K|TLL1_uc011cjo.2_Missense_Mutation_p.E595K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	771					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGATTGCAAGGAAGGTATGGA	0.398000														44			14		0	0	0.000566183	0	0
FOXP1	27086	broad.mit.edu	37	3	71037191	71037191	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:71037191G>C	uc003dol.3	-	9	1423	c.1100C>G	c.(1099-1101)aCc>aGc	p.T367S	FOXP1_uc003dom.3_Missense_Mutation_p.T291S|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.T367S|FOXP1_uc003doo.3_Missense_Mutation_p.T367S|FOXP1_uc003dop.3_Missense_Mutation_p.T367S|FOXP1_uc021xao.1_Missense_Mutation_p.T367S|FOXP1_uc003doq.1_Missense_Mutation_p.T366S|FOXP1_uc003doi.3_Missense_Mutation_p.T267S|FOXP1_uc003dok.3_Missense_Mutation_p.T293S|FOXP1_uc003doj.3_Missense_Mutation_p.T369S|FOXP1_uc003dor.1_Missense_Mutation_p.T145S	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	367	Leucine-zipper.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATGCAGGTGGGTCATCATGGC	0.438000			T	PAX5	ALL									172			4		0	0	0.00116845	0	0
DPP3	10072	broad.mit.edu	37	11	66258775	66258775	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:66258775G>C	uc001oig.1	+	6	781	c.719G>C	c.(718-720)cGg>cCg	p.R240P	DPP3_uc001oif.1_Missense_Mutation_p.R240P|DPP3_uc010rpe.1_Missense_Mutation_p.R229P	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	240					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TATGAATTCCGGGGAAGCCCT	0.577000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			16		0	0	0.000308642	0	0
GPR101	83550	broad.mit.edu	37	X	136112884	136112884	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:136112884C>T	uc011mwh.2	-	0	950	c.950G>A	c.(949-951)aGc>aAc	p.S317N		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	317						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACCCTCCATGCTGCCGTCGCT	0.587000														56			36		0	0	0.00148497	0	0
PTPN13	5783	broad.mit.edu	37	4	87696665	87696665	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:87696665C>T	uc003hpz.3	+	34	6231	c.5751C>T	c.(5749-5751)tcC>tcT	p.S1917S	PTPN13_uc003hpy.3_Silent_p.S1922S|PTPN13_uc003hqa.3_Silent_p.S1898S|PTPN13_uc003hqb.3_Silent_p.S1726S|PTPN13_uc003hqc.1_Silent_p.S283S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1917	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCCAAGGTCCGTCGCAGCCA	0.388000														9			6		0	0	0.00116845	0	0
FCRL1	115350	broad.mit.edu	37	1	157771259	157771259	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:157771259C>T	uc001frg.3	-	5	1108	c.995G>A	c.(994-996)aGa>aAa	p.R332K	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.R332K|FCRL1_uc001fri.3_Intron|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	332						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCTATTTTTCTTTTGAGGCC	0.428000														23			7		0	0	0.000157383	0	0
ITIH2	3698	broad.mit.edu	37	10	7751049	7751049	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:7751049C>T	uc001ijs.3	+	3	419	c.257C>T	c.(256-258)gCc>gTc	p.A86V		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	86	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.M85V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTCGGATGGCCACCACCATG	0.428000														31			11		0	0	0.000673444	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:20496630G>A	uc001ytf.1	+	5		c.683G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCATGAAGGGGAAGCCGAGGG	0.438000														75			5		0	0	0.000602214	0	0
PCDH15	65217	broad.mit.edu	37	10	55582378	55582378	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:55582378G>A	uc010qhy.1	-	34	5524	c.5129C>T	c.(5128-5130)tCa>tTa	p.S1710L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1705L|PCDH15_uc021pqz.1_Missense_Mutation_p.S1680L|PCDH15_uc010qhv.1_Missense_Mutation_p.S1700L|PCDH15_uc010qhw.1_Missense_Mutation_p.S1663L|PCDH15_uc010qhx.1_Missense_Mutation_p.S1634L|PCDH15_uc010qhz.1_Missense_Mutation_p.S1705L|PCDH15_uc010qia.1_Missense_Mutation_p.S1683L|PCDH15_uc001jju.1_Missense_Mutation_p.S1703L|PCDH15_uc010qib.1_Missense_Mutation_p.S1680L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1703					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAGGCCTTGAAGGAGAAAG	0.383000										HNSCC(58;0.16)				16			4		0	0	0.000602214	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813566	101813566	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:101813566C>T	uc003knn.3	-	3	789	c.617_splice	c.e3-1	p.D206_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.D206_splice|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	206						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCGCAAATATCTTTTGAAAAT	0.308000														57			17		0	0	0.000422831	0	0
PTH2R	5746	broad.mit.edu	37	2	209309571	209309571	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:209309571C>T	uc010zjb.2	+	6	1131	c.845C>T	c.(844-846)tCg>tTg	p.S282L	PTH2R_uc002vdb.3_Missense_Mutation_p.S271L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	271						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GCTTTCTTTTCGGACACCAAA	0.398000														86			21		0	0	0.000295444	0	0
OR5P2	120065	broad.mit.edu	37	11	7817955	7817955	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:7817955G>A	uc001mfp.1	-	0	535	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGTAAGGGAGCGAAATCA	0.403000														42			7		0	0	8.12818e-05	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5209252	5209252	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:5209252G>A	uc003jdl.3	+	9	1636	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E500K|ADAMTS16_uc003jdj.1_Missense_Mutation_p.E500K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	500	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E500V(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCTGTGAAGGAATACAAGTA	0.468000														69			25		0	0	0.00047179	0	0
CLPX	10845	broad.mit.edu	37	15	65456425	65456425	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:65456425G>A	uc002aom.3	-	4	687	c.615C>T	c.(613-615)atC>atT	p.I205I	CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Silent_p.I205I	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	205					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GATTAGCTGGGATATTATTAT	0.368000														76			34		0	0	0.00170553	0	0
ASPM	259266	broad.mit.edu	37	1	197070021	197070021	+	Missense_Mutation	SNP	A	G	G	rs111685217		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:197070021A>G	uc001gtu.3	-	17	8617	c.8360T>C	c.(8359-8361)gTt>gCt	p.V2787A	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.V635A	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2787					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCACTTTGAACAGCTTCATA	0.393000														82			23		0	0	0.00047179	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551914	58551914	+	Splice_Site	SNP	T	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:58551914T>G	uc002qrc.1	+	4	712	c.465_splice	c.e4+2	p.Q155_splice		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	155					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCATCGCAGGTGAGCCCGGGG	0.617000														16			6		0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9028320	9028320	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:9028320C>T	uc002mkp.3	-	10	36676	c.36472G>A	c.(36472-36474)Gac>Aac	p.D12158N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12160	SEA 1.				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						CGCTCTCTGTCCAGTCCGAGG	0.557000														46			18		0	0	0.00074312	0	0
FCGBP	8857	broad.mit.edu	37	19	40433354	40433354	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:40433354G>A	uc002omp.4	-	1	923	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	305	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGACAGGTAGAGTGGCCAGG	0.557000														17			6		0	0	0.00116845	0	0
KCTD3	51133	broad.mit.edu	37	1	215781439	215781439	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:215781439C>T	uc001hks.3	+	13	1684	c.1390C>T	c.(1390-1392)Cct>Tct	p.P464S	KCTD3_uc001hkt.3_Missense_Mutation_p.P464S|KCTD3_uc010pub.2_Missense_Mutation_p.P362S|KCTD3_uc009xdn.3_Intron	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	464						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGGTTCTACTCCTTTAGCGTC	0.438000														51			12		0	0	0.00136819	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:148080748G>A	uc003weu.2	+	21	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1161	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)				26			10		0	0	0.000978159	0	0
TREML2	79865	broad.mit.edu	37	6	41166074	41166074	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:41166074A>C	uc010jxm.1	-	1	328	c.149T>G	c.(148-150)gTg>gGg	p.V50G		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	50	Ig-like V-type.		V -> M (in dbSNP:rs35512890).		T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGCCCTCCACGCGGTTTTT	0.552000														107			24		0	0	0.000878237	0	0
PTPRK	5796	broad.mit.edu	37	6	128294823	128294823	+	Silent	SNP	C	T	T	rs138416879		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:128294823C>T	uc003qbk.3	-	27	4483	c.4116G>A	c.(4114-4116)acG>acA	p.T1372T	PTPRK_uc010kfc.3_Silent_p.T1379T|PTPRK_uc003qbj.3_Silent_p.T1373T|PTPRK_uc011ebu.2_Silent_p.T1395T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1372	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGTGGATAATCGTCCGGCCTT	0.483000														63			18		0	0	0.00152264	0	0
SCN9A	6335	broad.mit.edu	37	2	167055825	167055825	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:167055825C>T	uc010fpl.3	-	26	5632	c.5291G>A	c.(5290-5292)aGt>aAt	p.S1764N	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1775						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTCATCCTCACTCAGAGGTTC	0.418000														63			15		0	0	0.00074312	0	0
SAMD4A	23034	broad.mit.edu	37	14	55251330	55251330	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:55251330C>T	uc001xbb.3	+	10	2425	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	SAMD4A_uc001xbc.3_Missense_Mutation_p.A619V|SAMD4A_uc001xbg.2_Missense_Mutation_p.A334V	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	707					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.H705H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACCGAACACGCCCTGGGAGGT	0.552000														55			14		0	0	0.000308642	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053991	65053991	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:65053991G>A	uc001xhl.1	+	9	887	c.791G>A	c.(790-792)gGg>gAg	p.G264E	PPP1R36_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	264																	GAAGAAGTAGGGAGACTCTTT	0.418000														30			7		0	0	8.12818e-05	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133664076	133664076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:133664076G>A	uc003eqa.4	-	9	1598	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	SLCO2A1_uc011blv.2_Missense_Mutation_p.P261S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	442	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CGGCAGGCAGGAGACTGCGGA	0.542000														123			24		0	0	0.00047179	0	0
MEGF10	84466	broad.mit.edu	37	5	126755745	126755745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:126755745G>A	uc003kuh.4	+	12	1798	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	MEGF10_uc010jdc.1_Missense_Mutation_p.G479E|MEGF10_uc010jdd.1_Missense_Mutation_p.G479E|MEGF10_uc003kui.4_Missense_Mutation_p.G479E	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	479	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.G479E(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGCTGGCACGGGGTGGACTGC	0.572000														19			7		0	0	0.000157383	0	0
CDSN	1041	broad.mit.edu	37	6	31084733	31084733	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:31084733G>A	uc003nsm.2	-	1	715	c.659C>T	c.(658-660)tCg>tTg	p.S220L	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	220	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGGGATGTCCGAACTACAGGG	0.617000														29			11		0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82784661	82784661	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:82784661C>T	uc003uhx.2	-	1	1585	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	PCLO_uc003uhv.2_Silent_p.K432K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	384	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCAGGTGCCTTAGCTGGAG	0.592000														74			21		0	0	0.000295444	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrGL000205.1:117582C>G	uc002kgk.4	+	0		c.960C>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000														9			6		0	0	0.000157383	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205261	38205261	+	Silent	SNP	C	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:38205261C>A	uc003xli.3	-	1	947	c.429G>T	c.(427-429)gtG>gtT	p.V143V	WHSC1L1_uc011lbm.2_Silent_p.V143V|WHSC1L1_uc010lwe.3_Silent_p.V143V|WHSC1L1_uc003xlj.3_Silent_p.V143V	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	143					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTTTGGAATCACAGTTTGTG	0.413000			T	NUP98	AML									79			16		5.35267e-07	2.9849e-06	0.000958276	1	0
ZNF233	353355	broad.mit.edu	37	19	44770435	44770435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:44770435C>T	uc021uvi.1	+	2	206	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Nonsense_Mutation_p.Q34*	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AAAGCTGTACCAAGATGTGAT	0.522000														40			18		0	0	0.000958276	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661948	8661948	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:8661948G>A	uc002mkj.1	-	7	1237	c.963C>T	c.(961-963)atC>atT	p.I321I	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	321	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTGGTTCACGATGGATTTCT	0.572000														45			18		0	0	0.00152264	0	0
INO80	54617	broad.mit.edu	37	15	41275119	41275119	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:41275119G>A	uc001zni.3	-	34	4607	c.4394C>T	c.(4393-4395)gCc>gTc	p.A1465V	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Intron	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1465	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCAGCCCCGGCTTTGGCTCC	0.622000														51			25		0	0	0.000878237	0	0
PAH	5053	broad.mit.edu	37	12	103245469	103245469	+	Missense_Mutation	SNP	G	A	A	rs62642920		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:103245469G>A	uc001tjq.1	-	7	1381	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	303			S -> P (in PKU; haplotype 5).		L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCTTACCTGGGAAAACTGGGC	0.493000														28			11		0	0	0.000978159	0	0
C6	729	broad.mit.edu	37	5	41186273	41186273	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:41186273G>A	uc003jmk.2	-	5	835	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	C6_uc003jml.1_Missense_Mutation_p.L209F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	209	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAGTTATCAAGGACTTCTCCT	0.388000														29			4		0	0	0.000602214	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828684	13828684	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:13828684C>T	uc001rbt.2	-	3	1299	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	374					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTACCCTTTCCCACTTCCTC	0.418000														63			21		0	0	0.00188189	0	0
FAM131A	131408	broad.mit.edu	37	3	184062315	184062315	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:184062315C>T	uc003foe.3	+	5	801	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	FAM131A_uc003foc.3_Missense_Mutation_p.L135F|FAM131A_uc003fog.3_Missense_Mutation_p.L189F	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	189						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCCGCACCTCCAGGACCT	0.632000														66			14		0	0	0.000422831	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941953	120941953	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:120941953G>A	uc003eec.4	+	10	1200	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	STXBP5L_uc011bji.2_Missense_Mutation_p.D354N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	354					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTTGAAATGGATCATCCTAT	0.333000														46			19		0	0	0.000958276	0	0
ABCC11	85320	broad.mit.edu	37	16	48226507	48226507	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:48226507C>T	uc002eff.1	-	18	2980	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E	ABCC11_uc002efg.1_Missense_Mutation_p.G877E|ABCC11_uc002efh.1_Missense_Mutation_p.G877E|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	877	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGAGCAGACCCCCACACAGAT	0.572000														26			9		0	0	0.000442599	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602712	96602712	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:96602712C>A	uc010qnz.2	+	6	1080	c.1080C>A	c.(1078-1080)gaC>gaA	p.D360E	CYP2C19_uc010qny.2_Missense_Mutation_p.D338E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	360					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GATACATCGACCTCATCCCCA	0.537000														41			18		6.49762e-13	3.64914e-12	0.00074312	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933883	73933883	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:73933883C>T	uc003uaq.3	+	5	1143	c.750C>T	c.(748-750)tcC>tcT	p.S250S	GTF2IRD1_uc010lbq.3_Silent_p.S282S|GTF2IRD1_uc003uap.3_Silent_p.S250S|GTF2IRD1_uc003uar.1_Silent_p.S250S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	250						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCGCCACCTCCTCCTCCATGG	0.672000														17			9		0	0	0.000274275	0	0
COG1	9382	broad.mit.edu	37	17	71197605	71197605	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:71197605G>A	uc002jjg.3	+	6	1675	c.1639G>A	c.(1639-1641)Gtt>Att	p.V547I	COG1_uc002jjf.1_Missense_Mutation_p.V547I|COG1_uc002jjh.3_Missense_Mutation_p.V547I	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	547					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCCAAGGACGTTTCTCCCAC	0.532000														65			20		0	0	0.00152264	0	0
PRSS45	377047	broad.mit.edu	37	3	46784046	46784046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:46784046C>T	uc010hjl.3	-	3	516	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	193	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCTCAACTTCACAAGCCAAT	0.582000														42			10		0	0	0.000978159	0	0
MLKL	197259	broad.mit.edu	37	16	74709293	74709293	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:74709293G>A	uc002fdb.2	-	8	1641	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	MLKL_uc002fdc.2_Missense_Mutation_p.S182L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	400	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCCAGAGGACGATTCCAAAGC	0.478000														37			6		0	0	8.12818e-05	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401369	139401369	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:139401369G>A	uc004chz.3	-	22	3700	c.3700C>T	c.(3700-3702)Cgg>Tgg	p.R1234W	NOTCH1_uc004cia.1_Missense_Mutation_p.R464W	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1234	EGF-like 32; calcium-binding (Potential).				Notch receptor processing|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	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|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)		TTGGGGCTCCGGGACACGGGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				6			3		0	0	6.4e-05	0	0
OTOP3	347741	broad.mit.edu	37	17	72937810	72937810	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:72937810C>T	uc010wrr.2	+	1	396	c.396C>T	c.(394-396)tcC>tcT	p.S132S	OTOP3_uc010wrq.2_Silent_p.S114S	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	132						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGTCCTCTCCCTGCTTTGGC	0.622000														29			4		0	0	0.000602214	0	0
ABCA13	154664	broad.mit.edu	37	7	48259057	48259057	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:48259057G>A	uc003toq.2	+	3	418	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ABCA13_uc003top.2_Missense_Mutation_p.A132T|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	132					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGGACAAGGCAAAAAACTT	0.428000														66			13		0	0	0.000219431	0	0
SSH1	54434	broad.mit.edu	37	12	109201429	109201429	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:109201429G>A	uc001tnm.3	-	7	798	c.711C>T	c.(709-711)tcC>tcT	p.S237S	SSH1_uc001tnl.3_5'Flank|SSH1_uc010sxg.2_Silent_p.S248S|SSH1_uc001tnn.4_Silent_p.S237S|SSH1_uc001tno.1_Silent_p.S141S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	237					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATAGCGCGGGGGAGTCGGGCC	0.622000														45			16		0	0	0.00074312	0	0
LAMC2	3918	broad.mit.edu	37	1	183196718	183196718	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:183196718G>A	uc001gqa.2	+	9	1668	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	LAMC2_uc001gpz.4_Missense_Mutation_p.D452N|LAMC2_uc010poa.2_Missense_Mutation_p.D152N	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	452	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTTCTACAACGATCCGCACGA	0.557000														74			23		0	0	0.000586117	0	0
CYP3A7	1551	broad.mit.edu	37	7	99272200	99272200	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:99272200C>T	uc003urq.3	-	2	276	c.174G>A	c.(172-174)tgG>tgA	p.W58*	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Nonsense_Mutation_p.W48*|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Nonsense_Mutation_p.W58*	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	58					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGTCAAATTTCCAGAGACCCT	0.398000														21			7		0	0	0.000157383	0	0
CCBE1	147372	broad.mit.edu	37	18	57103247	57103247	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:57103247G>A	uc002lib.3	-	10	1184	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	CCBE1_uc010dpq.3_Nonsense_Mutation_p.Q101*|CCBE1_uc002lia.3_Nonsense_Mutation_p.Q225*	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	372					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGAAATTCCTGAGGTAAAGGG	0.527000														78			17		0	0	0.000958276	0	0
PARK2	5071	broad.mit.edu	37	6	161990439	161990439	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:161990439G>A	uc021zhu.1	-	8	1113	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Missense_Mutation_p.P103L|PARK2_uc010kkd.3_Missense_Mutation_p.P103L|PARK2_uc003qtx.4_Missense_Mutation_p.P294L|PARK2_uc021zhs.1_Missense_Mutation_p.P266L|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Missense_Mutation_p.P266L|PARK2_uc003qtz.4_Missense_Mutation_p.P145L|PARK2_uc021zhv.1_Missense_Mutation_p.P215L|PARK2_uc021zhw.1_Missense_Mutation_p.P103L|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Missense_Mutation_p.P294L|PARK2_uc010kke.1_Missense_Mutation_p.P313L|PARK2_uc011egf.2_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	294					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAAGGAGTTGGGACAGCCAGC	0.428000														44			13		0	0	0.000219431	0	0
CRB1	23418	broad.mit.edu	37	1	197398659	197398659	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:197398659G>A	uc001gtz.3	+	7	2966	c.2757G>A	c.(2755-2757)ggG>ggA	p.G919G	CRB1_uc010poz.2_Silent_p.G895G|CRB1_uc009wza.3_Silent_p.G807G|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Silent_p.G400G|CRB1_uc001gub.1_Silent_p.G568G	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	919	EGF-like 13.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCACAAGTGGGAAAGCCTGTG	0.532000														65			11		0	0	0.000978159	0	0
STAB2	55576	broad.mit.edu	37	12	104092978	104092978	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:104092978C>T	uc001tjw.3	+	33	3873	c.3687C>T	c.(3685-3687)ttC>ttT	p.F1229F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1229	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTCCTATTTCCTTAGCTTCT	0.473000														24			4		0	0	0.00024832	0	0
APOB	338	broad.mit.edu	37	2	21224644	21224645	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:21224644_21224645GG>TT	uc002red.3	-	28	13777_13778	c.13649_13650CC>AA	c.(13648-13650)ccc>cAA	p.P4550Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4550					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTTCATGTAGGGGTTCATGAC	0.356000														451			9		0	0	6.4e-05	0	0
CD163	9332	broad.mit.edu	37	12	7640024	7640024	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:7640024C>T	uc001qsz.3	-	7	2109	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CD163_uc001qta.3_Missense_Mutation_p.D661N|CD163_uc009zfw.2_Missense_Mutation_p.D694N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	661	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGACAATCTCCCATGTGC	0.507000														40			14		0	0	0.000219431	0	0
ECM2	1842	broad.mit.edu	37	9	95277165	95277165	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:95277165C>T	uc011lty.2	-	3	989	c.802G>A	c.(802-804)Gga>Aga	p.G268R	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.G246R|ECM2_uc004asg.3_Missense_Mutation_p.G246R	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	268					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						tcctccCTTCCTTGGCGTTGT	0.587000														83			15		0	0	0.000422831	0	0
SPINK5	11005	broad.mit.edu	37	5	147498040	147498040	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:147498040G>C	uc003lox.2	+	22	2226	c.2153G>C	c.(2152-2154)aGa>aCa	p.R718T	SPINK5_uc010jgs.1_Missense_Mutation_p.R690T|SPINK5_uc010jgr.2_Missense_Mutation_p.R699T|SPINK5_uc003low.2_Missense_Mutation_p.R718T|SPINK5_uc003loy.2_Missense_Mutation_p.R718T	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	718	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATGGAAGACTCAGCTGT	0.408000														50			14		0	0	0.00185496	0	0
EIF2D	1939	broad.mit.edu	37	1	206770521	206770521	+	Silent	SNP	T	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:206770521T>C	uc001heh.2	-	11	1526	c.1317A>G	c.(1315-1317)ctA>ctG	p.L439L	EIF2D_uc009xbw.2_Silent_p.L315L	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	439					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGCAGTCACATAGGATGGGAT	0.448000														27			7		0	0	0.000274275	0	0
KNG1	3827	broad.mit.edu	37	3	186435389	186435389	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:186435389G>A	uc011bsa.2	+	0	292	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	KNG1_uc003fqr.3_Missense_Mutation_p.E20K|KNG1_uc021xil.1_Missense_Mutation_p.E20K	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	20	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTTAACCCAGGAATCACAGTC	0.413000														42			12		0	0	0.00185496	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444230	15444230	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:15444230G>A	uc003gno.3	+	2	957	c.698G>A	c.(697-699)gGa>gAa	p.G233E	C1QTNF7_uc011bxb.2_Missense_Mutation_p.G226E|C1QTNF7_uc003gnp.3_Missense_Mutation_p.G226E	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	226	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GCCAACACAGGAAACCATGAT	0.458000														47			17		0	0	0.00074312	0	0
COL12A1	1303	broad.mit.edu	37	6	75834000	75834000	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:75834000G>A	uc021zbv.1	-	39	6730	c.6695C>T	c.(6694-6696)tCc>tTc	p.S2232F	COL12A1_uc021zbw.1_Missense_Mutation_p.S1068F|COL12A1_uc003phs.3_Missense_Mutation_p.S2232F|COL12A1_uc003pht.3_Missense_Mutation_p.S1068F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2232	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGCCTGTAGGAGGTGGCTGC	0.373000														33			4		0	0	0.00024832	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796684	62796684	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:62796684G>A	uc002jew.4	-	5	1267	c.356C>T	c.(355-357)cCt>cTt	p.P119L	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.P119L					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		GGGTTCCTCAGGCTGGTCTGA	0.682000														28			5		0	0	0.00116845	0	0
VAV3	10451	broad.mit.edu	37	1	108303444	108303444	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:108303444G>A	uc001dvk.1	-	9	1033	c.979C>T	c.(979-981)Cct>Tct	p.P327S	VAV3_uc010ouw.1_Missense_Mutation_p.P327S|VAV3_uc001dvl.1_Missense_Mutation_p.P151S|VAV3_uc010oux.1_Missense_Mutation_p.P327S	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	327	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGTTGCATAGGAACCACAAGC	0.323000														25			4		0	0	0.000602214	0	0
CABP5	56344	broad.mit.edu	37	19	48543898	48543898	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:48543898C>T	uc002phu.2	-	2	334	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	68	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAATCAGTTCCATCTCCGTG	0.537000														28			9		0	0	0.000673444	0	0
SPEG	10290	broad.mit.edu	37	2	220333434	220333434	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:220333434C>T	uc010fwg.3	+	10	3277	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1093	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCCCGCCCCCTGTTGTTAC	0.657000														27			6		0	0	8.12818e-05	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														28			11		0	0	0.000978159	0	0
DACH1	1602	broad.mit.edu	37	13	72147103	72147103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:72147103G>A	uc021rkj.1	-	3	1597	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	442					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGCTGACAGGAATTAGAGGG	0.438000														28			10		0	0	0.000978159	0	0
CPS1	1373	broad.mit.edu	37	2	211525297	211525297	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:211525297T>A	uc010fur.3	+	32	3945	c.3863T>A	c.(3862-3864)gTg>gAg	p.V1288E	CPS1_uc002vee.4_Missense_Mutation_p.V1282E|CPS1_uc010fus.3_Missense_Mutation_p.V831E	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1282					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACCAAGGTGATGATTGGA	0.403000														79			30		0	0	0.00178596	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453419	50453419	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:50453419C>T	uc010ybh.2	-	10	1996	c.1905G>A	c.(1903-1905)ggG>ggA	p.G635G	SIGLEC11_uc010ybi.2_Silent_p.G539G	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	635					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTTCCCCCTTCCCCGGGGTGT	0.662000														5			4		0	0	0.00024832	0	0
AFF4	27125	broad.mit.edu	37	5	132238168	132238168	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:132238168G>A	uc003kyd.3	-	6	1507	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	AFF4_uc011cxk.2_Missense_Mutation_p.P45S|AFF4_uc003kye.1_Missense_Mutation_p.P367S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	367	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.P367H(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTTAGAAGGATTATATCTT	0.289000														30			15		0	0	0.00074312	0	0
ISM2	145501	broad.mit.edu	37	14	77944663	77944663	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:77944663C>T	uc001xtz.3	-	5	1194	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	ISM2_uc001xua.3_Silent_p.L258L|ISM2_uc001xty.3_Missense_Mutation_p.E286K	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	374						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCCTTGTCCTCAGTGCCTTTG	0.627000														29			17		0	0	0.000566183	0	0
BRPF1	7862	broad.mit.edu	37	3	9785987	9785987	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:9785987G>A	uc003bse.3	+	8	3096	c.2697G>A	c.(2695-2697)ccG>ccA	p.P899P	BRPF1_uc003bsf.3_Silent_p.P905P|BRPF1_uc003bsg.3_Silent_p.P898P|BRPF1_uc011ati.2_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	899	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AAAAGAACCCGAAGACAGCTG	0.632000														32			12		0	0	0.000978159	0	0
NISCH	11188	broad.mit.edu	37	3	52526445	52526445	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:52526445C>T	uc003ded.4	+	20	4596	c.4462C>T	c.(4462-4464)Cgc>Tgc	p.R1488C	NISCH_uc003dee.4_Missense_Mutation_p.R977C|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1488					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTGTTGGCTCGCCAGTGGGA	0.667000														37			8		0	0	0.000274275	0	0
INHBA	3624	broad.mit.edu	37	7	41729722	41729722	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:41729722C>T	uc003thq.3	-	1	1042	c.807G>A	c.(805-807)ggG>ggA	p.G269G	INHBA_uc003thr.3_Silent_p.G269G	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	269					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ccttctttttcccttccccct	0.587000										TSP Lung(11;0.080)				13			5		0	0	0.000602214	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220392	130220392	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:130220392G>A	uc004evz.3	+	9	1716	c.1371G>A	c.(1369-1371)agG>agA	p.R457R	ARHGAP36_uc004ewa.3_Silent_p.R445R|ARHGAP36_uc004ewb.3_Silent_p.R426R|ARHGAP36_uc004ewc.3_Silent_p.R321R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	457					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGAACTTGAGGAAGATCCAGT	0.473000														17			12		0	0	0.00185496	0	0
APOL6	80830	broad.mit.edu	37	22	36055516	36055516	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:36055516G>A	uc003aoe.3	+	2	1199	c.905G>A	c.(904-906)gGg>gAg	p.G302E	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	302					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AGGGCCAGAGGGGTGGGGAAG	0.542000														38			8		0	0	0.000274275	0	0
AXL	558	broad.mit.edu	37	19	41744418	41744418	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:41744418G>A	uc010ehj.3	+	7	1228	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	AXL_uc010ehi.1_Silent_p.G346G|AXL_uc010ehk.3_Silent_p.G346G	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	346	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CGCGGAATGGGAGCCAGGCCT	0.667000														19			6		0	0	0.00116845	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573732	86573732	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:86573732C>T	uc022axf.1	-	0	1995	c.1995G>A	c.(1993-1995)cgG>cgA	p.R665R		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	665						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						GAGAGGCGGACCGGTGGCGTG	0.682000														23			5		0	0	8.12818e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223176989	223176990	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:223176989_223176990CG>AT	uc001hnu.2	+	9	2576_2577	c.2250_2251CG>AT	c.(2248-2253)tccgag>tcATag	p.E751*		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	751					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.S750S(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGGAGTTATCCGAGTTCCAGGT	0.460000														605			11		0	0	6.4e-05	0	0
TUBE1	51175	broad.mit.edu	37	6	112393144	112393144	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:112393144C>A	uc003pvq.3	-	10	1344	c.1230G>T	c.(1228-1230)atG>atT	p.M410I		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	410					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTTTCAGTTCCATGAAGGTGG	0.393000														43			17		3.32936e-07	1.86099e-06	0.00074312	1	0
SALL1	6299	broad.mit.edu	37	16	51173738	51173738	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:51173738G>A	uc021tif.1	-	1	2426	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	SALL1_uc021tid.1_Missense_Mutation_p.P702S|SALL1_uc021tie.1_Missense_Mutation_p.P799S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	799					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TAGCTGTCGGGGACTGGGGTG	0.507000														56			17		0	0	0.00121646	0	0
PTPRT	11122	broad.mit.edu	37	20	40730818	40730818	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:40730818G>A	uc002xkg.3	-	25	3844	c.3660C>T	c.(3658-3660)ttC>ttT	p.F1220F	PTPRT_uc010ggj.3_Silent_p.F1239F|PTPRT_uc010ggi.3_Silent_p.F423F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1220	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGAGATAAGGAAGGGCAGGC	0.582000														26			12		0	0	0.000219431	0	0
RNPEP	6051	broad.mit.edu	37	1	201970888	201970888	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:201970888C>T	uc001gxd.3	+	7	1448	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	RNPEP_uc001gxe.3_Silent_p.I174I	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	473					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAGTGGATATCATTCCAGGTA	0.423000														69			15		0	0	0.000219431	0	0
DQ586822	0	broad.mit.edu	37	15	84946643	84946643	+	RNA	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:84946643G>A	uc002bke.2	-	0		c.607C>T								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		CCCCCAGCACGGCCCTCTAAG	0.512000														7			4		0	0	0.000602214	0	0
VPS33A	65082	broad.mit.edu	37	12	122716937	122716937	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:122716937G>A	uc001ucd.3	-	12	1760	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	549					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGCCCCCAAGGAAAAATATCA	0.398000														31			9		0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13814881	13814881	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:13814881C>T	uc003jfd.2	-	42	7105	c.7063G>A	c.(7063-7065)Gat>Aat	p.D2355N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2355	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTTGTTATCATCCAAAACA	0.418000									Kartagener syndrome					38			19		0	0	0.00121646	0	0
DSC1	1823	broad.mit.edu	37	18	28720210	28720210	+	Missense_Mutation	SNP	C	T	T	rs141453659		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:28720210C>T	uc002kwn.3	-	9	1577	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	DSC1_uc002kwm.3_Missense_Mutation_p.E439K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	439	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATTGTGCCTCGTTAATGACA	0.368000														37			13		0	0	0.000219431	0	0
IL7R	3575	broad.mit.edu	37	5	35867477	35867477	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:35867477G>A	uc003jjs.3	+	2	380	c.291G>A	c.(289-291)aaG>aaA	p.K97K	IL7R_uc011coo.2_Silent_p.K97K|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	97					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCGAGACAAAGAAATTCTTAC	0.378000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							31			14		0	0	0.000219431	0	0
DIAPH2	1730	broad.mit.edu	37	X	96136645	96136645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:96136645C>T	uc004efu.4	+	4	911	c.515C>T	c.(514-516)tCg>tTg	p.S172L	DIAPH2_uc004eft.4_Missense_Mutation_p.S172L|DIAPH2_uc004efs.2_Missense_Mutation_p.S179L|RPA4_uc004efv.4_5'Flank	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	172	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding	p.R171Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAATTACGATCGGGTATATCA	0.383000														7			11		0	0	0.000978159	0	0
PTPRN	5798	broad.mit.edu	37	2	220166879	220166879	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:220166879G>A	uc002vkz.3	-	5	1215	c.974C>T	c.(973-975)gCt>gTt	p.A325V	PTPRN_uc010zlc.2_Missense_Mutation_p.A235V|PTPRN_uc002vla.3_Missense_Mutation_p.A325V	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	325					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCTGGGGAAGCAGGCTTCTC	0.612000														21			4		0	0	0.000602214	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529751	5529751	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5529751G>A	uc021qcw.1	-	0	1038	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.L346L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	346										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAATTGCTGGAGATAGTCAT	0.493000														39			19		0	0	0.000958276	0	0
ACACB	32	broad.mit.edu	37	12	109634839	109634839	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:109634839C>T	uc001tob.3	+	16	2627	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F	ACACB_uc001toc.3_Silent_p.F836F	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	836					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGACCATGTTCGTTCTCATCA	0.587000														9			9		0	0	0.000673444	0	0
OR2M7	391196	broad.mit.edu	37	1	248487835	248487835	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:248487835G>A	uc010pzk.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D11N(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGAGGAGGAAGTCAGAGT	0.458000														131			29		0	0	0.000491102	0	0
OR56A3	390083	broad.mit.edu	37	11	5969480	5969480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5969480G>A	uc010qzt.2	+	0	904	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAACCCAAGAAATTAAGCA	0.413000														29			9		0	0	0.000274275	0	0
SALL1	6299	broad.mit.edu	37	16	51173383	51173383	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:51173383G>A	uc021tif.1	-	1	2781	c.2459C>T	c.(2458-2460)cCa>cTa	p.P820L	SALL1_uc021tid.1_Missense_Mutation_p.P820L|SALL1_uc021tie.1_Missense_Mutation_p.P917L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	917					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGAGATGGCTGGGCTGCCAGC	0.552000														25			13		0	0	0.000219431	0	0
FREM2	341640	broad.mit.edu	37	13	39358926	39358926	+	Silent	SNP	C	T	T	rs146568641		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:39358926C>T	uc001uwv.3	+	5	6309	c.6000C>T	c.(5998-6000)atC>atT	p.I2000I	FREM2_uc001uww.3_Silent_p.I86I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2000	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGTTACAATCGTTCCTGACA	0.438000														23			7		0	0	0.000274275	0	0
C19orf21	126353	broad.mit.edu	37	19	757922	757922	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:757922C>T	uc002lpo.3	+	1	1059	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	326										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGAAATCCCCACCAGGCC	0.662000														8			6		0	0	0.00116845	0	0
FLNC	2318	broad.mit.edu	37	7	128482328	128482328	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:128482328G>A	uc003vnz.4	+	13	2374	c.2165G>A	c.(2164-2166)gGc>gAc	p.G722D	FLNC_uc003voa.4_Missense_Mutation_p.G722D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	722					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.N721K(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATCCCCAACGGCGACGGCACC	0.617000											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			5		0	0	0.00116845	0	0
THSD7A	221981	broad.mit.edu	37	7	11676536	11676536	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:11676536C>T	uc021zzo.1	-	1	495	c.243G>A	c.(241-243)acG>acA	p.T81T	THSD7A_uc021zzn.1_Silent_p.T81T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	81	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACAGCCCTCGTTTGGATGC	0.458000										HNSCC(18;0.044)				51			10		0	0	0.00136819	0	0
UNC45B	146862	broad.mit.edu	37	17	33513548	33513548	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:33513548G>A	uc002hja.3	+	19	2863	c.2766G>A	c.(2764-2766)atG>atA	p.M922I	UNC45B_uc002hjb.3_Missense_Mutation_p.M920I|UNC45B_uc002hjc.3_Missense_Mutation_p.M920I|UNC45B_uc010cto.3_Missense_Mutation_p.M841I	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	922					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCAAGTGCATGGATTATGGTT	0.527000														40			5		0	0	0.000602214	0	0
GPR112	139378	broad.mit.edu	37	X	135498645	135498645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:135498645C>T	uc004ezu.1	+	25	9529	c.9238C>T	c.(9238-9240)Cct>Tct	p.P3080S	GPR112_uc010nsb.1_Missense_Mutation_p.P2875S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	3080					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCCTCTCCTTGATTTGT	0.368000														19			13		0	0	0.000422831	0	0
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:240370352C>T	uc010pye.2	+	5	2477	c.2252C>T	c.(2251-2253)tCc>tTc	p.S751F	FMN2_uc010pyd.2_Missense_Mutation_p.S747F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572000														12			6		0	0	8.12818e-05	0	0
FAM188B	84182	broad.mit.edu	37	7	30961812	30961812	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:30961812C>T	uc003tbv.2	+	1	626	c.516C>T	c.(514-516)atC>atT	p.I172I	FAM188B_uc011kac.1_Silent_p.I232I|FAM188B_uc010kwf.1_Silent_p.I89I|FAM188B_uc010kwh.1_Silent_p.I121I|FAM188B_uc022abh.1_Silent_p.I57I	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTTGCCATCGGCCTCTCTG	0.682000														10			4		0	0	0.00024832	0	0
IKBKB	3551	broad.mit.edu	37	8	42174317	42174317	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:42174317C>T	uc003xow.2	+	10	1206	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	IKBKB_uc003xov.3_Silent_p.I340I|IKBKB_uc010lxh.2_Silent_p.I235I|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Silent_p.I61I|IKBKB_uc010lxj.2_Silent_p.I117I|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Silent_p.I338I|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Silent_p.I281I	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	340					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGGCCAGAATCCAACAGGACA	0.562000														20			6		0	0	0.000274275	0	0
LNX2	222484	broad.mit.edu	37	13	28127488	28127488	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:28127488G>A	uc001url.4	-	7	1944	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	LNX2_uc001urm.1_Silent_p.S545S	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	545	PDZ 3.						zinc ion binding	p.S545F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAACAGCAGGGGACGCGGCAC	0.488000														54			11		0	0	0.00136819	0	0
ITSN2	50618	broad.mit.edu	37	2	24533444	24533444	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:24533444G>A	uc002rfe.2	-	5	728	c.470C>T	c.(469-471)cCc>cTc	p.P157L	ITSN2_uc002rff.2_Missense_Mutation_p.P157L|ITSN2_uc002rfg.3_Missense_Mutation_p.P157L|ITSN2_uc010eyd.2_Missense_Mutation_p.P157L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	157					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCACTAGGGGAGTGGGCAT	0.463000														37			10		0	0	0.00185496	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471800	47471800	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:47471800C>T	uc001rpm.3	-	2	1641	c.986G>A	c.(985-987)aGa>aAa	p.R329K	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.R329K|AMIGO2_uc001rpl.3_Missense_Mutation_p.R329K|AMIGO2_uc021qxg.1_Missense_Mutation_p.R329K	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	329	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CTCTAGCAGTCTGTTATCTGG	0.448000														87			26		0	0	0.000720815	0	0
ISM1	140862	broad.mit.edu	37	20	13279725	13279725	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:13279725C>T	uc010gce.1	+	5	1020	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	338	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCGACATCTTCGACCGCATCA	0.597000														14			4		0	0	0.000602214	0	0
FBXO34	55030	broad.mit.edu	37	14	55818782	55818782	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:55818782C>T	uc021rtk.1	+	0	1674	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Silent_p.F558F|FBXO34_uc010aoo.3_Silent_p.F558F	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	558										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CGCATGACTTCCTGGAGACCA	0.488000														54			15		0	0	0.000308642	0	0
LRP2	4036	broad.mit.edu	37	2	170097627	170097627	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:170097627G>C	uc002ues.3	-	24	4129	c.3916C>G	c.(3916-3918)Cct>Gct	p.P1306A	LRP2_uc010zdf.1_Missense_Mutation_p.P1169A	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1306	LDL-receptor class A 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGAGTAGGGCAGTCCTTC	0.502000														37			17		0	0	0.00074312	0	0
OR4S2	219431	broad.mit.edu	37	11	55418737	55418737	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:55418737C>T	uc001nhs.1	+	0	358	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(2)		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)				GGCCTATGATCGTTATGTGGC	0.428000														33			29		0	0	0.00127121	0	0
COX6A1	1337	broad.mit.edu	37	12	120875936	120875936	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:120875936G>A	uc001tyf.1	+	0	33	c.7G>A	c.(7-9)Gta>Ata	p.V3I		NM_004373	NP_004364	P12074	CX6A1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), nuclear gene encoding mitochondrial protein, mRNA.	3					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAAATGGCGGTAGTTGGTGT	0.612000														13			4		0	0	0.000602214	0	0
SPTSSB	165679	broad.mit.edu	37	3	161063940	161063940	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:161063940G>A	uc003fee.3	-	2	946	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	SPTSSB_uc021xgx.1_Missense_Mutation_p.R58C	NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	Homo sapiens serine palmitoyltransferase, small subunit B (SPTSSB), mRNA.	58					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										CAAGCCAGGCGAATGTGGATT	0.368000														30			6		0	0	8.12818e-05	0	0
A4GNT	51146	broad.mit.edu	37	3	137843566	137843567	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:137843566_137843567CG>AT	uc003ers.2	-	2	764_765	c.562_563CG>AT	c.(562-564)cgg>ATg	p.R188M		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	188					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						ACTAGAGTACCGAGAAGCCTGC	0.495000														332			8		0	0	6.4e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12279645	12279645	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:12279645G>A	uc001rah.4	-	19	4434	c.4292C>T	c.(4291-4293)tCt>tTt	p.S1431F	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.S1386F	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1431					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|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 Wnt receptor signaling pathway involved in dorsal/ventral axis specification|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	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			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)				TCCTGACAAAGAACTTGGGTG	0.453000														166			44		0	0	0.000781405	0	0
UMODL1	89766	broad.mit.edu	37	21	43504239	43504239	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:43504239C>T	uc002zag.1	+	2	365	c.365C>T	c.(364-366)cCc>cTc	p.P122L	UMODL1_uc002zad.1_Missense_Mutation_p.P50L|UMODL1_uc002zae.1_Missense_Mutation_p.P50L|UMODL1_uc002zaf.1_Missense_Mutation_p.P122L|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	122	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGGCCTGCCCCGCAGAGGGG	0.562000														48			17		0	0	0.000422831	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984908	62984908	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:62984908C>T	uc001nwr.1	-	3	708	c.708G>A	c.(706-708)ttG>ttA	p.L236L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.L236L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	236					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CACAAAGTGTCAATGTCAATG	0.433000														20			6		0	0	0.00116845	0	0
ZNF479	90827	broad.mit.edu	37	7	57187780	57187780	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:57187780A>C	uc010kzo.3	-	4	1613	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGAGGATAAGCTAAAGGCT	0.438000														48			4		0	0	0.00024832	0	0
RALB	5899	broad.mit.edu	37	2	121047207	121047207	+	Silent	SNP	C	T	T	rs148143386		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:121047207C>T	uc002tmk.3	+	3	565	c.375C>T	c.(373-375)gtC>gtT	p.V125V	RALB_uc010yys.2_Silent_p.V147V|RALB_uc002tml.3_Silent_p.V146V|RALB_uc010yyt.2_Non-coding_Transcript	NM_002881	NP_002872	P11234	RALB_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA.	125					Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	p.V125V(2)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CACTGCTCGTCGTGGGAAACA	0.502000														72			21		0	0	0.000295444	0	0
GRID2	2895	broad.mit.edu	37	4	94436421	94436421	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:94436421C>T	uc011cdt.2	+	12	2310	c.2052C>T	c.(2050-2052)gaC>gaT	p.D684D	GRID2_uc011cdu.2_Silent_p.D589D	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	684					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D684N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGTCCTAGACTCTGCGGTAT	0.463000														14			5		0	0	0.000602214	0	0
SHANK2	22941	broad.mit.edu	37	11	70331862	70331862	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:70331862G>A	uc001oqc.3	-	20	4450	c.4338C>T	c.(4336-4338)acC>acT	p.T1446T	SHANK2_uc010rqn.2_Silent_p.T922T|SHANK2_uc001opz.3_Silent_p.T917T|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1133	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCTAGACACGGTGGAGATAG	0.577000														28			6		0	0	0.00116845	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389911	150389911	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150389911C>T	uc003who.3	+	2	625	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	179						integral to membrane	GTP binding	p.R178*(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGGCGAATCTGTGCCTTTA	0.483000														34			9		0	0	0.000673444	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	A	A	rs143537709		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:38888526G>A	uc021wvy.1	-	25	5234	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(2)|p.R1679H(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000														43			11		0	0	0.000673444	0	0
C17orf66	256957	broad.mit.edu	37	17	34192270	34192270	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:34192270C>T	uc002hke.1	-	2	418	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.R90Q|C17orf66_uc010wcm.1_Missense_Mutation_p.R56Q	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	90							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTTTCCTCTCGCTGATCATA	0.507000														35			9		0	0	0.000673444	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212336	43212336	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:43212336C>T	uc002lbe.3	+	4	1359	c.543C>T	c.(541-543)ctC>ctT	p.L181L	SLC14A2_uc002lbb.3_Silent_p.L181L|SLC14A2_uc010dnj.3_Silent_p.L181L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	181						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G180*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCAGGACTCCATGGGTACA	0.537000														56			8		0	0	0.000442599	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626960	108626960	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:108626960C>T	uc002tdv.3	+	8	1662	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	SLC5A7_uc010ywm.2_Silent_p.Y215Y|SLC5A7_uc010fjj.3_Silent_p.Y462Y|SLC5A7_uc010ywn.2_Silent_p.Y349Y	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	462					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGATCTTCTACCCTGGCTATT	0.423000														41			9		0	0	0.000673444	0	0
GRIA2	2891	broad.mit.edu	37	4	158242620	158242620	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:158242620C>T	uc003ipm.4	+	5	1210	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	GRIA2_uc011cit.2_Nonsense_Mutation_p.Q204*|GRIA2_uc021xtr.1_Nonsense_Mutation_p.Q251*|GRIA2_uc003ipl.4_Nonsense_Mutation_p.Q251*|GRIA2_uc003ipk.4_Nonsense_Mutation_p.Q204*|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	251					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTAAAAATCCAGTTTGGAGG	0.333000														50			17		0	0	0.00152264	0	0
SULT1A2	6799	broad.mit.edu	37	16	28607162	28607162	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:28607162G>A	uc002dqg.2	-	1	441	c.90C>T	c.(88-90)ccC>ccT	p.P30P	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.P30P	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	30					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCTCTGCAGGGGCCCCAGTG	0.637000														16			8		0	0	0.000673444	0	0
VPS39	23339	broad.mit.edu	37	15	42453930	42453930	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:42453930G>A	uc001zpd.3	-	24	2686	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	VPS39_uc001zpc.3_Silent_p.I834I|VPS39_uc001zpb.3_Silent_p.I180I	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	845					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	p.K845E(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTCTGTGATGATGCACTTCA	0.522000														116			31		0	0	0.00058488	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558403	106558403	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:106558403G>A	uc009yxn.1	-	8	2554	c.2164C>T	c.(2164-2166)Cct>Tct	p.P722S	GUCY1A2_uc001pjg.1_Missense_Mutation_p.P691S|GUCY1A2_uc010rvo.1_Missense_Mutation_p.P712S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	691					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAGATCCCAGGAATTTCCTTT	0.423000														63			24		0	0	0.00047179	0	0
ITGA8	8516	broad.mit.edu	37	10	15639291	15639291	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:15639291C>T	uc001ioc.1	-	20	2126	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	ITGA8_uc010qcb.1_Missense_Mutation_p.R694Q	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	709					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTCAGTGGTCGAAATCCCTA	0.502000														28			10		0	0	0.000978159	0	0
DNAH10	196385	broad.mit.edu	37	12	124285974	124285974	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:124285974C>T	uc001uft.4	+	14	2280	c.2255C>T	c.(2254-2256)tCa>tTa	p.S752L	DNAH10_uc010tav.1_Missense_Mutation_p.S294L|DNAH10_uc010taw.1_Missense_Mutation_p.S237L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	752	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACTGGAACTCACTAGGTAAC	0.378000														39			14		0	0	0.000308642	0	0
DMD	1756	broad.mit.edu	37	X	32509577	32509577	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:32509577G>A	uc004dda.1	-	19	2683	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	DMD_uc004dcz.2_Silent_p.I690I|DMD_uc004dcy.1_Silent_p.I809I|DMD_uc004ddb.1_Silent_p.I805I|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	813					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCAGAATTCGATCCACCGGC	0.403000														10			5		0	0	0.000602214	0	0
CFH	3075	broad.mit.edu	37	1	196887426	196887426	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:196887426G>A	uc001gtp.3	+	9	1764	c.1627G>A	c.(1627-1629)Ggg>Agg	p.G543R	CFH_uc021pgt.1_Missense_Mutation_p.G166R|CFH_uc009wyy.3_Missense_Mutation_p.G542R|CFH_uc001gto.3_Missense_Mutation_p.G296R	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	894	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCAAAAACAGGGGATACCAT	0.318000														56			10		0	0	0.000978159	0	0
ZNF566	84924	broad.mit.edu	37	19	36940898	36940898	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:36940898C>G	uc010xtf.2	-	4	376	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	ZNF566_uc002oea.4_Missense_Mutation_p.E80Q|ZNF566_uc010xte.2_Missense_Mutation_p.E80Q|ZNF566_uc002oeb.4_Missense_Mutation_p.E80Q|ZNF566_uc002oec.4_5'UTR|ZNF566_uc010xtg.2_5'UTR	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATCTTGATTCCAGGACTGAA	0.303000														23			7		0	0	8.12818e-05	0	0
ACTR10	55860	broad.mit.edu	37	14	58701160	58701160	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:58701160G>C	uc001xdf.3	+	12	1248	c.1145G>C	c.(1144-1146)gGc>gCc	p.G382A	C14orf37_uc010tro.2_Intron|ACTR10_uc021rtr.1_Missense_Mutation_p.G184A|ACTR10_uc010trp.2_Non-coding_Transcript|ACTR10_uc010apc.3_Missense_Mutation_p.G172A	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	382						cytoplasm		p.T381T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATCAGACGGGCCGTATACCT	0.393000														46			16		0	0	0.000422831	0	0
ATG2A	23130	broad.mit.edu	37	11	64676602	64676602	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:64676602G>A	uc001obx.3	-	15	2340	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	742							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGGACTGGGGGTTCACAGT	0.672000														19			11		0	0	0.00185496	0	0
PKP2	5318	broad.mit.edu	37	12	33031217	33031217	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:33031217G>A	uc001rlj.4	-	2	712	c.597C>T	c.(595-597)atC>atT	p.I199I	PKP2_uc001rlk.4_Silent_p.I199I|PKP2_uc010skj.2_Silent_p.I199I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	199					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I199I(2)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGACCCCCACGATCTCGGAAC	0.597000														22			6		0	0	0.00116845	0	0
OR4N5	390437	broad.mit.edu	37	14	20612776	20612776	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:20612776G>A	uc010tla.2	+	0	882	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACCAGGAGGTGAAAGCTTCCA	0.403000														51			16		0	0	0.000566183	0	0
ERCC2	2068	broad.mit.edu	37	19	45860600	45860600	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:45860600C>T	uc002pbj.2	-	14	1454	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	ERCC2_uc002pbh.2_Silent_p.K32K|ERCC2_uc002pbi.2_Silent_p.K162K|ERCC2_uc010ejz.2_Silent_p.K391K|ERCC2_uc002pbk.2_Silent_p.K445K	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	469	Mediates interaction with MMS19.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGTCCAGGATCTTGGGGTAGA	0.647000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					10			5		0	0	8.12818e-05	0	0
IGSF9	57549	broad.mit.edu	37	1	159907562	159907562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:159907562C>T	uc001fur.2	-	3	512	c.314G>A	c.(313-315)tGg>tAg	p.W105*	IGSF9_uc001fuq.2_Nonsense_Mutation_p.W105*	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	105	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTCGTACCAGCCCTGGTC	0.592000														32			7		0	0	8.12818e-05	0	0
SHMT2	6472	broad.mit.edu	37	12	57627814	57627814	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:57627814C>T	uc001snf.2	+	10	1514	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	SHMT2_uc001snh.2_Silent_p.F438F|SHMT2_uc009zpk.2_Silent_p.F426F|SHMT2_uc001sng.2_Silent_p.F332F|SHMT2_uc001sni.2_Silent_p.F415F|SHMT2_uc010srg.2_Silent_p.F445F|SHMT2_uc010srh.2_Silent_p.F415F|SHMT2_uc001snj.2_Silent_p.F340F|SHMT2_uc010sri.2_Silent_p.F415F|SHMT2_uc001snk.2_Silent_p.F340F|SHMT2_uc010srj.2_Silent_p.F91F	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	436						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCGACAGTTCCGTGAGGATG	0.557000														34			21		0	0	0.00188189	0	0
NR2E1	7101	broad.mit.edu	37	6	108497842	108497842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:108497842C>T	uc003psg.3	+	3	1150	c.395C>T	c.(394-396)aCc>aTc	p.T132I		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	132					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCCTTCTTCACCGCGGTCACG	0.701000														15			7		0	0	8.12818e-05	0	0
OR2K2	26248	broad.mit.edu	37	9	114089805	114089805	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:114089805C>G	uc011lwp.2	-	0	909	c.909G>C	c.(907-909)ttG>ttC	p.L303F		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	332					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TTTTGCCCAGCAATTTCTTCA	0.413000														28			4		0	0	0.00024832	0	0
DSCAM	1826	broad.mit.edu	37	21	41414514	41414514	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:41414514C>T	uc002yyq.1	-	31	5922	c.5470G>A	c.(5470-5472)Gaa>Aaa	p.E1824K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1824					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTTGCTCTTCCATCTTGGCG	0.537000														33			11		0	0	0.000978159	0	0
GPR176	11245	broad.mit.edu	37	15	40094226	40094226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:40094226C>T	uc001zkj.1	-	2	1521	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	GPR176_uc010uck.1_Missense_Mutation_p.V159M	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	219					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AACACCACCACCACAGGCACA	0.557000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			5		0	0	0.00116845	0	0
CDH8	1006	broad.mit.edu	37	16	61761011	61761011	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:61761011C>T	uc002eog.2	-	8	2478	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	CDH8_uc002eoh.3_Missense_Mutation_p.G277E	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	508	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCGGGTTTTCCATTTTCACA	0.378000														42			10		0	0	0.00136819	0	0
SLC18A1	6570	broad.mit.edu	37	8	20031896	20031896	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:20031896C>T	uc011kyq.2	-	5	1078	c.607G>A	c.(607-609)Gga>Aga	p.G203R	SLC18A1_uc003wzm.3_Missense_Mutation_p.G203R|SLC18A1_uc011kyr.2_Missense_Mutation_p.G203R|SLC18A1_uc003wzn.3_Missense_Mutation_p.G203R|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	203					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	p.G203G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AATGAAGATCCAATGCCTTGA	0.448000														37			4		0	0	0.00116845	0	0
C3	718	broad.mit.edu	37	19	6685030	6685030	+	Nonsense_Mutation	SNP	C	T	T	rs112522704		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:6685030C>T	uc002mfm.3	-	29	4000	c.3938G>A	c.(3937-3939)tGg>tAg	p.W1313*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1313					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGCAGATTCCCAGTGGATACG	0.582000														20			4		0	0	0.00024832	0	0
TESPA1	9840	broad.mit.edu	37	12	55367269	55367269	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:55367269C>T	uc010spd.1	-	2	331	c.198G>A	c.(196-198)caG>caA	p.Q66Q	TESPA1_uc001sgl.3_5'UTR|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_5'UTR|TESPA1_uc001sgn.3_Silent_p.Q66Q	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	66																	ACCCGCAATCCTGCAGCCAGT	0.468000														38			18		0	0	0.00152264	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:12656204G>A	uc002gno.2	+	9	1898	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.W533*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.W437*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.W252*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	533					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACTCACCTGGAAACTCCAGC	0.537000														18			5		0	0	0.00116845	0	0
GPR119	139760	broad.mit.edu	37	X	129518464	129518464	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:129518464C>T	uc011muv.2	-	0	1048	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	320						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CAGGAACTTTCCCTGGGCCTC	0.542000														21			17		0	0	0.00121646	0	0
SCN2A	6326	broad.mit.edu	37	2	166179918	166179919	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:166179918_166179919GG>AA	uc002udc.3	+	11	2214_2215	c.1924_1925GG>AA	c.(1924-1926)ggg>AAg	p.G642K	SCN2A_uc002udd.3_Missense_Mutation_p.G642K|SCN2A_uc002ude.3_Missense_Mutation_p.G642K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	642					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G642R(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCCCATGAATGGGAAGATGCAT	0.619000														17			4		0	0	6.4e-05	0	0
BRDT	676	broad.mit.edu	37	1	92446461	92446461	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:92446461G>A	uc001dol.4	+	10	1894	c.1476G>A	c.(1474-1476)agG>agA	p.R492R	BRDT_uc010osz.2_Silent_p.R496R|BRDT_uc001dok.4_Silent_p.R492R|BRDT_uc009wdf.3_Silent_p.R419R|BRDT_uc010otb.2_Silent_p.R446R|BRDT_uc010ota.2_Silent_p.R446R|BRDT_uc001dom.4_Silent_p.R492R	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAAAGAAAAGGAAACAACAGT	0.308000														27			8		0	0	0.000442599	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321797	79321797	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:79321797A>G	uc010mpk.3	-	7	5517	c.5393T>C	c.(5392-5394)gTt>gCt	p.V1798A	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.V1620A	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1798					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGCCATGCAACATCTCCTGT	0.463000														18			8		0	0	0.000157383	0	0
SYT12	91683	broad.mit.edu	37	11	66807659	66807659	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:66807659C>T	uc009yrl.3	+	3	836	c.606C>T	c.(604-606)atC>atT	p.I202I	SYT12_uc001oju.3_Silent_p.I202I	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	202	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ACGAGCAGATCGTGGGCATTT	0.672000														34			7		0	0	0.000274275	0	0
C19orf45	374877	broad.mit.edu	37	19	7570315	7570316	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:7570315_7570316GG>AA	uc002mgm.2	+	4	1029_1030	c.888_889GG>AA	c.(886-891)agggag>agAAag	p.E297K	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	297										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCTATGCCAGGGAGCCAGGTGA	0.639000														10			8		0	0	6.4e-05	0	0
SYN2	6854	broad.mit.edu	37	3	12183495	12183495	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:12183495C>T	uc003bwm.3	+	6	679	c.515_splice	c.e6+1	p.R172_splice	SYN2_uc003bwl.1_Splice_Site_p.R172_splice	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	176					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AAAGGTTGTCCGGTAAGGGTC	0.493000														182			56		0	0	0.000781405	0	0
CA10	56934	broad.mit.edu	37	17	50008440	50008440	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:50008440C>T	uc002itv.4	-	3	943	c.207G>A	c.(205-207)ggG>ggA	p.G69G	CA10_uc002itw.4_Silent_p.G63G|CA10_uc002itx.4_Silent_p.G63G|CA10_uc002ity.4_Silent_p.G63G|CA10_uc002itz.2_Silent_p.G63G	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	63					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ACTGCCGTTTCCCCACAGAGC	0.493000														62			27		0	0	0.000720815	0	0
MUC6	4588	broad.mit.edu	37	11	1021237	1021237	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:1021237C>T	uc001lsw.2	-	26	3618	c.3567G>A	c.(3565-3567)gaG>gaA	p.E1189E		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1189					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACACCCCCTCCTCGTGGTCGA	0.627000														6			3		0	0	0.00024832	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410904	121410904	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:121410904T>C	uc010hrc.3	-	13	7433	c.7307A>G	c.(7306-7308)aAc>aGc	p.N2436S	GOLGB1_uc003eei.4_Missense_Mutation_p.N2431S|GOLGB1_uc003eej.4_Missense_Mutation_p.N2397S|GOLGB1_uc021xcy.1_Missense_Mutation_p.N2356S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2431					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.D2436H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCCTTTTTGTTCTCCTCTTC	0.383000														71			14		0	0	0.000308642	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814304	106814304	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:106814304G>A	uc003ymd.3	+	7	2017	c.1994G>A	c.(1993-1995)gGa>gAa	p.G665E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G396E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	665					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAATTAATGGAAAACCTGTT	0.433000														18			7		0	0	0.000157383	0	0
CADM2	253559	broad.mit.edu	37	3	86028334	86028334	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:86028334C>T	uc003dql.3	+	7	970	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S	CADM2_uc003dqj.3_Missense_Mutation_p.P322S|CADM2_uc003dqk.3_Intron|CADM2_uc003dqm.2_Missense_Mutation_p.P214S|CADM2_uc021xay.1_Intron|CADM2_uc021xaz.1_Intron|CADM2_uc021xba.1_Missense_Mutation_p.P214S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	322	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CACTTTGCTTCCCACTACTAT	0.403000														88			23		0	0	0.000878237	0	0
CUX2	23316	broad.mit.edu	37	12	111748436	111748436	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:111748436C>T	uc001tsa.2	+	14	2004	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	617						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGTTCCTGTCGGATGAGCAG	0.647000														24			6		0	0	0.000157383	0	0
FAT3	120114	broad.mit.edu	37	11	92531351	92531351	+	Silent	SNP	C	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:92531351C>A	uc001pdj.4	+	8	5189	c.5172C>A	c.(5170-5172)acC>acA	p.T1724T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1724	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGTCATCACCACTCAGAAGG	0.418000										TCGA Ovarian(4;0.039)				404			9		0.000978159	0.00544187	0.000978159	1	0
FASLG	356	broad.mit.edu	37	1	172634797	172634797	+	Missense_Mutation	SNP	G	A	A	rs80358236		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:172634797G>A	uc001gis.3	+	3	644	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	163					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCTGGAATGGGAAGACACCTA	0.408000														27			13		0	0	0.00185496	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359193	102359193	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:102359193C>T	uc001vpb.3	+	8	1439	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	ITGBL1_uc010agb.3_Missense_Mutation_p.T358M|ITGBL1_uc001vpc.4_Missense_Mutation_p.T266M	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	407	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.T407M(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAACATGACGGAAGAACAA	0.517000														70			8		0	0	0.000274275	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811058	69811058	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:69811058C>T	uc003hef.2	-	1	861	c.830G>A	c.(829-831)gGa>gAa	p.G277E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	277						integral to membrane	glucuronosyltransferase activity	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAGTGCAATCCTCCAACAAA	0.363000														28			9		0	0	0.000673444	0	0
OR4K13	390433	broad.mit.edu	37	14	20502702	20502702	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:20502702G>A	uc010tkz.2	-	0	216	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M71I(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAGCCAGGATCATATCAA	0.443000														39			11		0	0	0.000978159	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938278	116938278	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:116938278G>A	uc003pxe.2	+	0	637	c.492G>A	c.(490-492)agG>agA	p.R164R	RSPH4A_uc010kee.2_Silent_p.R164R	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	164					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGACGAAGGGACGTGAGCT	0.468000									Kartagener syndrome					54			19		0	0	0.00188189	0	0
APP	351	broad.mit.edu	37	21	27327992	27327992	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:27327992G>A	uc002ylz.3	-	11	1736	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	APP_uc011acg.2_Silent_p.F20F|APP_uc010glk.3_Silent_p.F488F|APP_uc002yma.3_Silent_p.F493F|APP_uc011ach.2_Silent_p.F456F|APP_uc021whz.1_Silent_p.F512F|APP_uc021wia.1_Silent_p.F493F|APP_uc002ymb.3_Silent_p.F437F|APP_uc010glj.3_Silent_p.F381F|APP_uc021wib.1_Silent_p.F437F|APP_uc011aci.2_Silent_p.F402F	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	512	Heparin-binding.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity	p.F512F(4)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACATGCTCGAAATGCTTTA	0.493000														38			15		0	0	0.000308642	0	0
PCDH18	54510	broad.mit.edu	37	4	138451778	138451778	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:138451778C>T	uc003ihe.4	-	0	1852	c.1465G>A	c.(1465-1467)Gcc>Acc	p.A489T	PCDH18_uc003ihf.4_Missense_Mutation_p.A482T|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.A269T|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	489	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGATCTGTGGCTGTAACAGTG	0.403000														69			20		0	0	0.000958276	0	0
LYZ	4069	broad.mit.edu	37	12	69746962	69746962	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:69746962G>A	uc001suw.2	+	3	465	c.410G>A	c.(409-411)aGa>aAa	p.R137K	LYZ_uc021ral.1_5'Flank	NM_000239	NP_000230	P61626	LYSC_HUMAN	Homo sapiens lysozyme (LYZ), mRNA.	137					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TGTCAAAACAGAGATGTCCGT	0.378000														79			9		0	0	0.000673444	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243335	6243335	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:6243335C>T	uc002kmz.4	-	6	578	c.418G>A	c.(418-420)Gga>Aga	p.G140R	L3MBTL4_uc002kmy.4_Missense_Mutation_p.G140R|L3MBTL4_uc010dkt.3_Missense_Mutation_p.G140R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	140					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCACACCATCCTACTGGATGA	0.393000														44			13		0	0	0.000219431	0	0
IKZF3	22806	broad.mit.edu	37	17	37922110	37922110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:37922110C>T	uc002hsu.3	-	7	1525	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	IKZF3_uc002htd.3_Missense_Mutation_p.R454Q|IKZF3_uc010cwd.3_Missense_Mutation_p.R345Q|IKZF3_uc002hsv.3_Missense_Mutation_p.R415Q|IKZF3_uc010cwe.3_Missense_Mutation_p.R354Q|IKZF3_uc010cwf.3_Missense_Mutation_p.R306Q|IKZF3_uc010cwg.3_Missense_Mutation_p.R267Q|IKZF3_uc002hsw.3_Missense_Mutation_p.R449Q|IKZF3_uc002hsx.3_Missense_Mutation_p.R432Q|IKZF3_uc002hsy.3_Missense_Mutation_p.R449Q|IKZF3_uc002hsz.3_Missense_Mutation_p.R393Q|IKZF3_uc002hta.3_Missense_Mutation_p.R410Q|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.R401Q|IKZF3_uc002htc.3_Missense_Mutation_p.R241Q|IKZF3_uc010wel.2_Missense_Mutation_p.R241Q	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	488					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCATGGCTTCGATATCCACA	0.512000														60			18		0	0	0.000958276	0	0
SYCP2L	221711	broad.mit.edu	37	6	10898272	10898272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:10898272G>A	uc003mzo.3	+	4	661	c.365G>A	c.(364-366)gGa>gAa	p.G122E	SYCP2L_uc011din.1_5'UTR|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	122						nucleus		p.G122E(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAACAACAGGAATTCTGACC	0.418000														35			17		0	0	0.00074312	0	0
KCNK13	56659	broad.mit.edu	37	14	90651108	90651108	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:90651108G>A	uc001xye.1	+	1	1430	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	330						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CATAGAGACAGACGGGGTGGC	0.622000														49			19		0	0	0.000958276	0	0
E2F8	79733	broad.mit.edu	37	11	19246901	19246901	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:19246901G>A	uc001mpm.3	-	11	2810	c.2288C>T	c.(2287-2289)cCa>cTa	p.P763L	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.P763L	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	763					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P763Q(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTATTCTTGGAGACACAGG	0.532000														42			8		0	0	0.000274275	0	0
SYNE1	23345	broad.mit.edu	37	6	152832162	152832162	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:152832162A>T	uc021zhb.1	-	4	609	c.386T>A	c.(385-387)aTt>aAt	p.I129N	SYNE1_uc003qot.4_Missense_Mutation_p.I136N|SYNE1_uc003qou.4_Missense_Mutation_p.I129N|SYNE1_uc010kjb.1_Missense_Mutation_p.I129N|SYNE1_uc003qpa.1_Missense_Mutation_p.I129N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	129	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATATAGAATAATGGTCCACAT	0.383000										HNSCC(10;0.0054)				121			38		0	0	0.000437636	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488801	20488801	+	RNA	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:20488801C>T	uc001ytf.1	+	1		c.284C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		CTCATGAGAACTTTATGTGGA	0.418000														95			5		0	0	8.12818e-05	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607290	160607290	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:160607290G>A	uc001fwl.4	-	1	452	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.L36F	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	36					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCCGGAGAATCTTTGGG	0.473000														14			6		0	0	8.12818e-05	0	0
BAI3	577	broad.mit.edu	37	6	70071226	70071226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:70071226C>T	uc010kak.3	+	27	4337	c.4061C>T	c.(4060-4062)cCt>cTt	p.P1354L	BAI3_uc003pev.4_Missense_Mutation_p.P1354L|BAI3_uc011dxx.2_Missense_Mutation_p.P560L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1354					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGAATCCCCCTGTAATGGAC	0.413000														80			18		0	0	0.00074312	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150501930G>A	uc003whx.1	+	6	760	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000														47			11		0	0	0.00185496	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749032	33749032	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:33749032C>T	uc002rox.3	+	8	1230	c.603C>T	c.(601-603)atC>atT	p.I201I	RASGRP3_uc010ync.2_Silent_p.I201I|RASGRP3_uc002roy.3_Silent_p.I201I	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	201	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTAATGGAATCTCTAAGTGGG	0.418000														111			35		0	0	0.00058488	0	0
RGS7	6000	broad.mit.edu	37	1	240966273	240966273	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:240966273C>T	uc001hyt.2	-	8	840	c.786G>A	c.(784-786)atG>atA	p.M262I	RGS7_uc010pyh.2_Missense_Mutation_p.M404I|RGS7_uc010pyj.1_Missense_Mutation_p.M346I|RGS7_uc001hyu.2_Missense_Mutation_p.M430I|RGS7_uc009xgn.1_Missense_Mutation_p.M377I|RGS7_uc001hyv.2_Missense_Mutation_p.M430I|RGS7_uc001hyw.2_Missense_Mutation_p.M430I	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	430	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATCACTTTTCATCAGTTTGT	0.348000														92			16		0	0	0.000958276	0	0
DNAH14	127602	broad.mit.edu	37	1	225155175	225155175	+	Silent	SNP	C	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:225155175C>A	uc001how.2	+	5	756	c.541C>A	c.(541-543)Cgg>Agg	p.R181R	DNAH14_uc001hou.4_Silent_p.R181R|DNAH14_uc001hot.4_Silent_p.R181R|DNAH14_uc001hov.4_Silent_p.R181R	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	308					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTGCCTTCCTCGGAAAAGTCC	0.294000														91			46		2.64514e-33	1.48907e-32	0.000781405	1	0
STIM1	6786	broad.mit.edu	37	11	4080625	4080625	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:4080625C>T	uc021qco.1	+	5	1181	c.613_splice	c.e5+1	p.L205_splice	STIM1_uc001lyv.2_Splice_Site_p.L205_splice|STIM1_uc009yef.2_Splice_Site_p.L205_splice|STIM1_uc009yeg.2_Splice_Site_p.L32_splice	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	205					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGCCTCCTCTCTGTGAGTCTT	0.542000														11			4		0	0	0.00024832	0	0
COL12A1	1303	broad.mit.edu	37	6	75839869	75839869	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:75839869C>T	uc021zbv.1	-	35	6183	c.6148G>A	c.(6148-6150)Ggg>Agg	p.G2050R	COL12A1_uc021zbw.1_Missense_Mutation_p.G886R|COL12A1_uc003phs.3_Missense_Mutation_p.G2050R|COL12A1_uc003pht.3_Missense_Mutation_p.G886R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2050	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGAACTGGCCCATCAGCATGA	0.413000														37			7		0	0	8.12818e-05	0	0
F9	2158	broad.mit.edu	37	X	138630645	138630645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:138630645C>T	uc004fas.1	+	4	544	c.515C>T	c.(514-516)cCa>cTa	p.P172L	F9_uc004fat.1_Missense_Mutation_p.P134L	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	172					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TCCTGTGAACCAGCAGGTCAT	0.368000														11			10		0	0	0.000673444	0	0
RNF31	55072	broad.mit.edu	37	14	24619941	24619941	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:24619941C>T	uc001wmn.1	+	7	1581	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	RNF31_uc001wml.1_Silent_p.A293A|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.A259A|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	444	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CACAACATGCCCCCCGGCCCT	0.592000														30			17		0	0	0.000295444	0	0
DCTN4	51164	broad.mit.edu	37	5	150090912	150090912	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:150090912G>A	uc010jhi.3	-	13	1305	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	DCTN4_uc003lsu.3_Silent_p.F337F|DCTN4_uc003lsv.3_Silent_p.F394F	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	394						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCTTTCTGAAGGCTATAA	0.373000														24			16		0	0	0.000308642	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452068	43452068	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:43452068G>A	uc002rsv.4	-	1	1166	c.875C>T	c.(874-876)tCc>tTc	p.S292F	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	292					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				cgaagagcaggaggGCGGCGG	0.761000														14			4		0	0	0.00024832	0	0
GNAI2	2771	broad.mit.edu	37	3	50290554	50290554	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:50290554C>T	uc003cyq.1	+	3	523	c.402C>T	c.(400-402)gaC>gaT	p.D134D	GNAI2_uc003cyo.1_Silent_p.D118D|GNAI2_uc003cyp.1_Silent_p.D118D|GNAI2_uc010hlg.1_Silent_p.D53D|GNAI2_uc011bdn.2_Silent_p.D97D|GNAI2_uc003cyr.1_Silent_p.D53D	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	134					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGGGCTGACCATGGTGTGC	0.647000														114			16		0	0	0.000958276	0	0
ZNF664	144348	broad.mit.edu	37	12	124496840	124496840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:124496840G>A	uc001ugb.3	+	4	1178	c.149G>A	c.(148-150)tGg>tAg	p.W50*	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Nonsense_Mutation_p.W50*|ZNF664_uc021rfz.1_Nonsense_Mutation_p.W50*	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CATATTCATTGGAGAGACCAT	0.353000														81			8		0	0	0.000157383	0	0
OBSCN	84033	broad.mit.edu	37	1	228400271	228400271	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:228400271G>C	uc009xez.1	+	1	831	c.787G>C	c.(787-789)Ggc>Cgc	p.G263R	OBSCN_uc001hsn.3_Missense_Mutation_p.G263R|AK056556_uc001hsm.1_Non-coding_Transcript	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	263	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACGTGACCGGCGAGCCCAA	0.706000														51			4		0	0	0.000602214	0	0
POT1	25913	broad.mit.edu	37	7	124469351	124469351	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:124469351G>A	uc003vlm.3	-	15	2152	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Intron|POT1_uc003vlo.3_Silent_p.S386S	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	517					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TATCAACCAGGGAATTTAGAT	0.308000														52			13		0	0	0.00185496	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839796	40839796	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:40839796C>T	uc002iay.3	+	7	1319	c.1103C>T	c.(1102-1104)cCt>cTt	p.P368L	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	368					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCGGAGGCCCTCACAACTTC	0.607000														29			7		0	0	0.000274275	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740149	176740149	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:176740149C>T	uc001gkz.3	+	16	5712	c.4548C>T	c.(4546-4548)ctC>ctT	p.L1516L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1516	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGGTCTCTCCCTGAAGTCT	0.522000														43			7		0	0	0.000274275	0	0
NLRC5	84166	broad.mit.edu	37	16	57060564	57060564	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:57060564C>T	uc021tiu.1	+	4	1836	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	NLRC5_uc021tit.1_Missense_Mutation_p.S570F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.S375F|NLRC5_uc021tiw.1_Missense_Mutation_p.S375F|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	570					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGCCTGGCATCCTGCACCTGC	0.617000														30			9		0	0	0.000274275	0	0
SUPT6H	6830	broad.mit.edu	37	17	27020796	27020797	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:27020796_27020797TC>CT	uc010crt.3	+	28	3908_3909	c.3716_3717TC>CT	c.(3715-3717)ttc>tCT	p.F1239S	SUPT6H_uc002hby.3_Missense_Mutation_p.F1239S	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1239	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.G1238S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTCACCGGCTTCATCCCCACCA	0.525000														30			15		0	0	6.4e-05	0	0
CNTN4	152330	broad.mit.edu	37	3	2908630	2908630	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:2908630G>A	uc003bpc.3	+	7	988	c.649G>A	c.(649-651)Gat>Aat	p.D217N	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.D217N|CNTN4_uc003bpd.1_Missense_Mutation_p.D217N	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	217					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGAGAAATGATGGTGAGTT	0.383000														20			5		0	0	0.00116845	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														24			8		0	0	0.00121646	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657720	18657720	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:18657720C>T	uc003zne.4	+	7	1070	c.918C>T	c.(916-918)ttC>ttT	p.F306F	ADAMTSL1_uc003znb.3_Silent_p.F306F|ADAMTSL1_uc003znc.4_Silent_p.F306F	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	306						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGACGGATTTCTTTCCTTGCT	0.468000														22			12		0	0	0.000219431	0	0
LRP6	4040	broad.mit.edu	37	12	12397300	12397300	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:12397300T>G	uc001rah.4	-	1	487	c.345A>C	c.(343-345)gaA>gaC	p.E115D	LRP6_uc010shl.1_Missense_Mutation_p.E115D	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	115	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|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 Wnt receptor signaling pathway involved in dorsal/ventral axis specification|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	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			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)				TCCGATTAGTTTCAGAATCTG	0.393000														207			75		0	0	0.000781405	0	0
PRC1	9055	broad.mit.edu	37	15	91525064	91525065	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:91525064_91525065GG>TT	uc002bqm.3	-	3	571_572	c.414_415CC>AA	c.(412-417)ccccac>ccAAac	p.H139N	PRC1_uc002bqn.3_Missense_Mutation_p.H139N|PRC1_uc002bqo.3_Missense_Mutation_p.H139N|PRC1_uc010uqs.2_Missense_Mutation_p.H98N|PRC1_uc010uqt.1_Missense_Mutation_p.H87N	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	139	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATATCATAGTGGGGCATACAAA	0.441000														476			9		0	0	6.4e-05	0	0
CHML	1122	broad.mit.edu	37	1	241799033	241799033	+	Silent	SNP	A	G	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:241799033A>G	uc001hzd.3	-	0	200	c.36T>C	c.(34-36)gtT>gtC	p.V12V	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	12					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCCTATTATAACCACATCAA	0.438000														60			11		0	0	0.000673444	0	0
BCMO1	53630	broad.mit.edu	37	16	81295858	81295858	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:81295858C>T	uc002fgn.1	+	3	659	c.441C>T	c.(439-441)atC>atT	p.I147I	BCMO1_uc002fgm.1_Silent_p.I147I|BCMO1_uc010vnp.1_Silent_p.I78I	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	147					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TCAGGAAAATCAACCCACAGA	0.507000														38			18		0	0	0.00121646	0	0
FAM117B	150864	broad.mit.edu	37	2	203589649	203589649	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:203589649G>C	uc010zhx.2	+	2	773	c.763G>C	c.(763-765)Gca>Cca	p.A255P	FAM117B_uc010zhw.2_Missense_Mutation_p.A255P	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	255										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GACAGAGAGTGCATGGGCTGA	0.368000														111			30		0	0	0.000491102	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918165	51918165	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:51918165G>A	uc002pwo.3	-	7	1750	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	SIGLEC10_uc002pwp.3_Missense_Mutation_p.H452Y|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	510					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCCCTCCATGGAGGCTCAGG	0.687000														20			12		0	0	0.00136819	0	0
HOXA2	3199	broad.mit.edu	37	7	27142096	27142096	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:27142096C>T	uc003syh.3	-	0	299	c.24G>A	c.(22-24)gaG>gaA	p.E8E	HOXA2_uc022aaq.1_Silent_p.E8E	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	8						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TAAAACCAATCTCTCGCTCAA	0.502000														43			6		0	0	0.000157383	0	0
FAM184A	79632	broad.mit.edu	37	6	119345462	119345462	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:119345462C>T	uc003pyj.3	-	1	1024	c.676G>A	c.(676-678)Gag>Aag	p.E226K	FAM184A_uc003pyk.4_Missense_Mutation_p.E106K|FAM184A_uc003pyl.4_Missense_Mutation_p.E106K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	226										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GACTCCACCTCCATTCTGTGT	0.433000														39			7		0	0	0.000157383	0	0
RARS2	57038	broad.mit.edu	37	6	88224096	88224096	+	Splice_Site	SNP	T	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:88224096T>A	uc003pme.3	-	20	1832	c.1772_splice	c.e20+1		RARS2_uc003pmc.3_Splice_Site|RARS2_uc003pmf.3_Splice_Site	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.						arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAACTAGAATTCACTTGACA	0.348000														27			4		0	0	0.00024832	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679314	37679314	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:37679314G>A	uc001uwm.1	-	0	488	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	27	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.S27F(2)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTCTCCAAAGGAGCCAGACCC	0.542000														47			15		0	0	0.000308642	0	0
IGFN1	91156	broad.mit.edu	37	1	201184794	201184794	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:201184794G>A	uc001gwc.3	+	14	9253	c.9123G>A	c.(9121-9123)aaG>aaA	p.K3041K	IGFN1_uc001gwb.3_Intron	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGGAGGAAGGACGGGGCTG	0.642000														18			4		0	0	0.00024832	0	0
OR4C12	283093	broad.mit.edu	37	11	50003708	50003708	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:50003708G>A	uc010ria.2	-	0	364	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGCAGGATGATCTCAGTAG	0.458000														82			31		0	0	0.000339439	0	0
SCAND3	114821	broad.mit.edu	37	6	28542979	28542979	+	Silent	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:28542979G>A	uc003nlo.3	-	2	2121	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	501	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.F501F(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACATCTGAATGAACCACAAAA	0.433000														57			14		0	0	0.000308642	0	0
SLC26A8	116369	broad.mit.edu	37	6	35912096	35912096	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:35912096T>C	uc003olm.3	-	19	2605	c.2494A>G	c.(2494-2496)Atg>Gtg	p.M832V	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.M414V|SLC26A8_uc003oll.3_Missense_Mutation_p.M727V|SLC26A8_uc003oln.3_Missense_Mutation_p.M832V	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	832	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGCTGCTCATTTTATATCTT	0.388000														39			8		0	0	0.000274275	0	0
WIPF2	147179	broad.mit.edu	37	17	38418887	38418887	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:38418887G>A	uc002hug.1	+	3	547	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Missense_Mutation_p.G103S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.G103S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	103						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGCCAAGGATGGTTCAGGTAT	0.537000										HNSCC(43;0.11)				44			11		0	0	0.00136819	0	0
DPH2	1802	broad.mit.edu	37	1	44437122	44437122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:44437122C>T	uc001ckz.3	+	3	743	c.548C>T	c.(547-549)cCc>cTc	p.P183L	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Missense_Mutation_p.P48L|DPH2_uc001clb.3_Missense_Mutation_p.P107L	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	183					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCAGCTTTTCCCCAACCAGTG	0.607000														13			4		0	0	0.00024832	0	0
C20orf152	140894	broad.mit.edu	37	20	34572599	34572599	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:34572599G>A	uc002xer.1	+	5	771	c.615G>A	c.(613-615)atG>atA	p.M205I	C20orf152_uc002xes.1_Missense_Mutation_p.M205I|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	205										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TCGTCTGTATGGAAGAAACGG	0.502000														34			9		0	0	0.000442599	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150499314C>T	uc003whx.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000														38			7		0	0	0.000442599	0	0
ULK2	9706	broad.mit.edu	37	17	19699574	19699574	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:19699574G>A	uc002gwm.4	-	18	2340	c.1831C>T	c.(1831-1833)Cct>Tct	p.P611S	ULK2_uc002gwn.3_Missense_Mutation_p.P611S	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	611					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGAGTTTTAGGGATTTTGAAA	0.413000														26			10		0	0	0.000673444	0	0
ADCY7	113	broad.mit.edu	37	16	50342697	50342697	+	Silent	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:50342697C>T	uc002egd.1	+	15	2323	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	ADCY7_uc002egc.2_Silent_p.I685I	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	685					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGGCCATCATCAACCTGGTGG	0.622000														23			6		0	0	8.12818e-05	0	0
DDX60L	91351	broad.mit.edu	37	4	169315758	169315758	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:169315758C>T	uc021xuh.1	-	26	3778	c.3668G>A	c.(3667-3669)aGg>aAg	p.R1223K	DDX60L_uc003irq.4_Missense_Mutation_p.R1223K|DDX60L_uc003irr.1_Missense_Mutation_p.R1224K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1223	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CGGTAATACCCTCTCCAAAGT	0.358000														25			12		0	0	0.00185496	0	0
GABRG1	2565	broad.mit.edu	37	4	46067417	46067417	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:46067417C>T	uc003gxb.3	-	3	658	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R169*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTCCAAATTCGAAGCAGACG	0.323000														24			7		0	0	0.000442599	0	0
LOC440041	440041	broad.mit.edu	37	11	55065456	55065456	+	RNA	SNP	C	T	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:55065456C>T	uc021qjb.1	-	0		c.253G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CTTTGTCTCTCTGTGCATCCC	0.473000														9			5		0	0	0.000602214	0	0
TACSTD2	4070	broad.mit.edu	37	1	59041883	59041883	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:59041883delC	uc001cyz.4	-	0	1284	c.946delG	c.(946-948)gagfs	p.E316fs		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	316					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					TTTCTCAACTCCCCCAGTTCC	0.612													---	4	---	---	2	---					
SLCO2B1	11309	broad.mit.edu	37	11	74876960	74876960	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:74876960delC	uc001owb.3	+	3	809	c.414delC	c.(412-414)atcfs	p.I138fs	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_Frame_Shift_Del_p.I22fs|SLCO2B1_uc001owc.3_Frame_Shift_Del_p.I22fs|SLCO2B1_uc001owd.3_Frame_Shift_Del_p.I116fs	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	138					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGCACTTCATCTCGGAGCCAT	0.617													---	84	---	---	31	---					
DMD	1756	broad.mit.edu	37	X	31187635	31187635	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:31187635delT	uc004dda.1	-	73	10722	c.10478delA	c.(10477-10479)cagfs	p.Q3493fs	DMD_uc004dcq.1_Frame_Shift_Del_p.Q764fs|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Frame_Shift_Del_p.Q1033fs|DMD_uc004dcu.1_Frame_Shift_Del_p.Q1033fs|DMD_uc004dcv.1_Frame_Shift_Del_p.Q1020fs|DMD_uc004dcw.2_Frame_Shift_Del_p.Q2149fs|DMD_uc004dcx.2_Frame_Shift_Del_p.Q2152fs|DMD_uc004dcz.2_Frame_Shift_Del_p.Q3370fs|DMD_uc004dcy.1_Frame_Shift_Del_p.Q3489fs|DMD_uc004ddb.1_Frame_Shift_Del_p.Q3485fs|DMD_uc004dcp.1_Frame_Shift_Del_p.Q412fs|DMD_uc011mkb.1_Intron|DMD_uc004dcm.1_Frame_Shift_Del_p.Q425fs|DMD_uc004dcn.1_Frame_Shift_Del_p.Q412fs|DMD_uc004dco.1_Frame_Shift_Del_p.Q425fs	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3493	Binds to SNTB1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATCAAGATCTGGGCAGGACT	0.438													---	4	---	---	2	---					
USP9X	8239	broad.mit.edu	37	X	41010280	41010283	+	Frame_Shift_Del	DEL	GTTT	-	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:41010280_41010283delGTTT	uc004dfb.3	+	12	2366_2369	c.1733_1736delGTTT	c.(1732-1737)agtttgfs	p.S578fs	USP9X_uc004dfc.3_Frame_Shift_Del_p.S578fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	578					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAATTTGTAGTTTGTTTGGTGAA	0.314													---	8	---	---	8	---