Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR4A15	81328	broad.mit.edu	37	11	55135807	55135807	+	Nonsense_Mutation	SNP	C	C	T	rs150217199		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:55135807C>T	uc010rif.2	+	0	448	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150*(4)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGCCTATGATCGATACATGGC	0.433000													35	78					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17099463	17099463	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:17099463A>G	uc009ygu.1	-	12	1470	c.694T>C	c.(694-696)Tcg>Ccg	p.S232P	RPS13_uc001mmp.3_5'Flank			O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	0					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GCTTGCGTCGAAATTCCCTGT	0.562000													3	7					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776735	38776735	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:38776735G>T	uc003gtj.3	-	3	1115	c.477C>A	c.(475-477)ttC>ttA	p.F159L	TLR10_uc021xnk.1_Missense_Mutation_p.F145L|TLR10_uc003gti.3_Missense_Mutation_p.F159L|TLR10_uc021xnl.1_Missense_Mutation_p.F159L|TLR10_uc003gtk.3_Missense_Mutation_p.F159L|TLR10_uc021xnm.1_Missense_Mutation_p.F159L	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	159					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAATTTTCTGGAAATCTGATT	0.398000													9	34					2.62144e-13	3.03634e-13	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159655428	159655428	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:159655428T>G	uc010kjv.3	+	10	4084	c.3884T>G	c.(3883-3885)aTg>aGg	p.M1295R	FNDC1_uc010kjw.1_Missense_Mutation_p.M1180R	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1295				M -> K (in Ref. 6; CAE51894).		extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCACCCCGATGCTGTCCTTG	0.632000													33	73					0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72499107	72499107	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr15:72499107C>T	uc002aty.2	-	7	1386	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	PKM2_uc010bit.1_Missense_Mutation_p.G373R|PKM2_uc010uki.2_Missense_Mutation_p.G442R|PKM2_uc002atx.2_Missense_Mutation_p.G368R|PKM2_uc002atw.2_Missense_Mutation_p.G368R|PKM2_uc010ukj.2_Missense_Mutation_p.G353R|PKM2_uc010ukk.2_Missense_Mutation_p.G294R|PKM2_uc002atv.2_Missense_Mutation_p.G403R|PKM2_uc010biu.1_Missense_Mutation_p.G389R	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	368	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	GGATAGTCCCCTTTGGCTGTT	0.622000													4	26					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68853183	68853183	+	Splice_Site	SNP	A	A	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:68853183A>C	uc002ewg.1	+	11	1690	c.1566_splice	c.e11-1	p.T522_splice	CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Splice_Site_p.T461_splice	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	522	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCCGTTCAGATATCGGATTT	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				21	60					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64587895	64587895	+	Silent	SNP	G	G	A	rs116379450	by1000genomes	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr12:64587895G>A	uc001srw.4	-	2	1124	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D		NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	355										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGACTGGCCTGTCGCTGGGCA	0.527000													5	74					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131190046	131190046	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:131190046G>T	uc011blp.2	-	7	983	c.788C>A	c.(787-789)aCc>aAc	p.T263N	MRPL3_uc011blo.2_Missense_Mutation_p.T131N|MRPL3_uc003eoh.3_Missense_Mutation_p.T236N	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	236					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCTCCTGTGGGTTTTCGTTTG	0.418000													12	63					1.5739e-10	1.79714e-10	1	1	0
ZNF674	641339	broad.mit.edu	37	X	46359729	46359729	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:46359729T>C	uc004dgr.3	-	5	1522	c.1295A>G	c.(1294-1296)cAt>cGt	p.H432R	ZNF674_uc011mlg.2_Missense_Mutation_p.H426R|ZNF674_uc022bvl.1_Missense_Mutation_p.H427R	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						ATGAGTTCTATGATGGACAGA	0.423000													5	40					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43251682	43251682	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr20:43251682G>A	uc002xmj.3	-	6	772	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	215			A -> T (in ADASCID; dbSNP:rs114025668).		T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.A215A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CACCTCCCCGGCGTGGACAGT	0.657000									Adenosine Deaminase Deficiency				20	64					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132577	8132577	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:8132577C>T	uc010rbm.1	-	5	916	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	RIC3_uc001mgb.2_Missense_Mutation_p.E98K|RIC3_uc010rbl.1_Missense_Mutation_p.E210K|RIC3_uc001mgd.2_Missense_Mutation_p.E260K|RIC3_uc001mgc.2_Missense_Mutation_p.E259K|RIC3_uc009yfm.2_Missense_Mutation_p.E179K|RIC3_uc001mge.2_Missense_Mutation_p.E78K|RIC3_uc009yfn.2_Missense_Mutation_p.E63K	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	260						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCAGCTATTTCTTCAGCAGAA	0.428000													38	155					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516343	195516343	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:195516343C>A	uc021xjp.1	-	1	2264	c.2108G>T	c.(2107-2109)gGt>gTt	p.G703V	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.G585V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	708					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTTGTGTGACCATCCCCGGT	0.612000													15	60					1.67942e-08	1.86473e-08	1	1	0
HK1	3098	broad.mit.edu	37	10	71136714	71136714	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:71136714G>T	uc001jpl.4	+	7	1001	c.900G>T	c.(898-900)atG>atT	p.M300I	HK1_uc001jpg.4_Missense_Mutation_p.M288I|HK1_uc001jph.4_Missense_Mutation_p.M304I|HK1_uc001jpi.4_Missense_Mutation_p.M304I|HK1_uc001jpj.4_Missense_Mutation_p.M335I|HK1_uc001jpk.4_Missense_Mutation_p.M299I|HK1_uc009xqd.3_Missense_Mutation_p.M178I	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	300	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCAGTGGCATGTACTTGGGAG	0.567000													49	158					2.48909e-17	2.92513e-17	1	1	0
ZNF75A	7627	broad.mit.edu	37	16	3367508	3367508	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:3367508T>C	uc002cut.4	+	5	1056	c.530T>C	c.(529-531)aTt>aCt	p.I177T	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTGACCTTATTAAGCACCAA	0.378000													38	113					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94805453	94805453	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr8:94805453G>C	uc011lgk.2	+	15	1674	c.1603G>C	c.(1603-1605)Gct>Cct	p.A535P	TMEM67_uc010maw.2_Missense_Mutation_p.A241P|TMEM67_uc003yga.4_Missense_Mutation_p.A454P|TMEM67_uc011lgl.2_5'Flank	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	535					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGGTGGGCTAGCTGTTTTAGC	0.368000													26	68					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52897102	52897102	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:52897102G>T	uc001cty.2	-	27	4547	c.4294C>A	c.(4294-4296)Cag>Aag	p.Q1432K	ZCCHC11_uc001ctx.2_Missense_Mutation_p.Q1431K	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1431	Gln-rich.|Pro-rich.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAAATGGCTGAGGCTGAGGA	0.393000													18	34					2.5808e-16	3.01093e-16	1	1	0
FAM184B	27146	broad.mit.edu	37	4	17635486	17635486	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:17635486C>A	uc003gpm.4	-	16	3128	c.2915G>T	c.(2914-2916)aGc>aTc	p.S972I	CR936688_uc003gpl.1_Non-coding_Transcript	NM_015688	NP_056503	Q9ULE4	F184B_HUMAN	Homo sapiens family with sequence similarity 184, member B (FAM184B), mRNA.	972										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GACCACGCGGCTGGGCACGTC	0.443000													16	49					1.33834e-09	1.51741e-09	1	1	0
DYM	54808	broad.mit.edu	37	18	46798650	46798650	+	Silent	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr18:46798650C>G	uc002ldi.1	-	10	1514	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	DYM_uc010xdf.1_Silent_p.L193L|DYM_uc002ldj.3_Silent_p.L205L	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	383						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CAACATGATACAGAATCTCAA	0.299000													31	81					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135582848	135582848	+	Silent	SNP	T	T	C	rs147796802		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:135582848T>C	uc004ezw.3	+	4	863	c.441T>C	c.(439-441)gaT>gaC	p.D147D	HTATSF1_uc004ezx.3_Silent_p.D147D	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	147	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTACAGTGGATGAATTTATAC	0.289000													5	74					0	0	1	0	0
NM_001162367	100128542	broad.mit.edu	37	7	150447027	150447027	+	Missense_Mutation	SNP	T	T	G	rs28505524	by1000genomes	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:150447027T>G	uc011kuw.2	+	0	204	c.204T>G	c.(202-204)gaT>gaG	p.D68E		NM_001162367	NP_001155839			NM_001162367																		CTGTAATGGATTCACAATTTG	0.348000													7	108					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214826247	214826247	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:214826247T>C	uc001hkm.3	+	15	8411	c.8237T>C	c.(8236-8238)aTa>aCa	p.I2746T		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2842	Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E2745K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGCTGGAGATAGACCTTTTA	0.328000													20	79					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567069	4567069	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:4567069A>T	uc010qyf.2	+	0	649	c.649A>T	c.(649-651)Att>Ttt	p.I217F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCAGTGGCTATTGCTGCATC	0.532000													28	92					0	0	1	0	0
DNAJC25	548645	broad.mit.edu	37	9	114412019	114412019	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr9:114412019A>G	uc004bfl.3	+	2	832	c.776A>G	c.(775-777)tAt>tGt	p.Y259C	DNAJC25_uc004bfn.3_Intron|DNAJC25_uc004bfm.3_Missense_Mutation_p.Y137C	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.	259					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						CTATGCTCATATATAGTTTGG	0.328000													39	117					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870363	129870363	+	Silent	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr9:129870363T>G	uc004bqr.1	-	1	1148	c.648A>C	c.(646-648)ccA>ccC	p.P216P	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	216					multicellular organismal development|signal transduction	extracellular space	receptor binding	p.P216S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAGCGGGGGGTGGCTGGGGGA	0.637000													5	44					0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183245385	183245385	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:183245385C>A	uc003ivd.1	+	0	287	c.212C>A	c.(211-213)gCa>gAa	p.A71E	ODZ3_uc021xux.1_Missense_Mutation_p.A71E|ODZ3_uc010irv.1_Missense_Mutation_p.A71E	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	71	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CACAGAGAAGCAGACGAGTTC	0.458000													7	49					0.000274275	0.000292439	1	1	0
CCDC64B	146439	broad.mit.edu	37	16	3078701	3078701	+	Splice_Site	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:3078701T>A	uc002ctf.4	-	7	1283	c.1238_splice	c.e7+1	p.K413_splice	CCDC64B_uc002cte.4_Splice_Site_p.K206_splice	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	413										breast(1)|endometrium(2)|large_intestine(1)	4						TGAGGCTTACTTGTTCACGGC	0.637000													11	44					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77671536	77671536	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:77671536A>T	uc011bgk.2	+	23	4368	c.3725A>T	c.(3724-3726)gAc>gTc	p.D1242V	ROBO2_uc021xat.1_Missense_Mutation_p.D1254V|ROBO2_uc003dpy.4_Missense_Mutation_p.D1238V|ROBO2_uc003dpz.3_Missense_Mutation_p.D1242V|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1238					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGAGCACTGGACCAGACTCCT	0.463000													17	24					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8088411	8088411	+	RNA	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr8:8088411A>G	uc011kwt.2	+	1		c.275A>G			FAM86C1_uc010lrq.2_Non-coding_Transcript|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.									p.Q48R(3)		lung(1)	1						GAGCTGCTGCAGGATATTTTG	0.488000													3	20					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645152	45645152	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr14:45645152C>G	uc001wwd.4	+	13	3294	c.3195C>G	c.(3193-3195)tgC>tgG	p.C1065W	FANCM_uc010anf.3_Missense_Mutation_p.C1039W|FANCM_uc001wwe.4_Missense_Mutation_p.C601W|FANCM_uc010ang.3_Missense_Mutation_p.C279W	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1065					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAAAAGTTGCCTTTATGATA	0.299000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				27	75					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19474632	19474632	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:19474632G>T	uc002dgc.4	+	6	1928	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	TMC5_uc010vaq.2_Missense_Mutation_p.Q393H|TMC5_uc002dgb.4_Missense_Mutation_p.Q393H|TMC5_uc010var.2_Missense_Mutation_p.Q393H|TMC5_uc002dgd.1_Missense_Mutation_p.Q147H|TMC5_uc002dge.4_Missense_Mutation_p.Q147H|TMC5_uc002dgf.4_Missense_Mutation_p.Q76H|TMC5_uc002dgg.4_Missense_Mutation_p.Q34H	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	393						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAGCAAACAGACCCATCGTA	0.393000													15	42					0.000566183	0.000599707	1	1	0
FAM46B	115572	broad.mit.edu	37	1	27333078	27333078	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:27333078A>T	uc010ofj.2	-	1	807	c.635T>A	c.(634-636)tTt>tAt	p.F212Y	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	212										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGAATTCAAACTGGCGTCT	0.552000													14	35					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46895104	46895104	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:46895104C>G	uc001ndn.4	-	28	4513	c.4270G>C	c.(4270-4272)Ggg>Cgg	p.G1424R	LOC100507401_uc001ndl.3_Non-coding_Transcript	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1424					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCCCTCGCCCGATCACTGTC	0.572000													19	51					0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43108944	43108944	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr20:43108944A>G	uc002xmc.1	+	2	429	c.305A>G	c.(304-306)tAc>tGc	p.Y102C	TTPAL_uc002xmd.1_Missense_Mutation_p.Y102C|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	102						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CTCGTCAACTACCACAGCTGT	0.567000													37	80					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44116985	44116985	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr2:44116985G>A	uc002rtr.2	-	36	4074	c.4016C>T	c.(4015-4017)gCa>gTa	p.A1339V		NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1339	RNA-binding.				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCATACAGTGCTTTAGCAGA	0.363000													41	146					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134078995	134078995	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:134078995A>C	uc003eqf.2	-	6	2127	c.2010T>G	c.(2008-2010)aaT>aaG	p.N670K	AMOTL2_uc003eqg.1_Missense_Mutation_p.N612K|AMOTL2_uc003eqh.1_Missense_Mutation_p.N610K|AMOTL2_uc003eqe.1_Missense_Mutation_p.N237K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	612										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCAGACCCTCATTGAAGCTGC	0.622000													18	39					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118977251	118977251	+	Silent	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:118977251T>C	uc004erz.2	-	4	583	c.483A>G	c.(481-483)agA>agG	p.R161R	UPF3B_uc004esa.2_Silent_p.R161R	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	161	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCAAAAACTTTCTATATTCTG	0.279000													14	12					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346718	29346718	+	Missense_Mutation	SNP	C	C	T	rs149847107		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr15:29346718C>T	uc001zck.3	+	2	835	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	APBA2_uc010azj.2_Missense_Mutation_p.R211C|APBA2_uc010uat.2_Missense_Mutation_p.R211C|APBA2_uc001zcl.3_Missense_Mutation_p.R211C|APBA2_uc010uas.1_Missense_Mutation_p.R211C	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	211	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCCCCTACCGCCTGAGGCG	0.602000													8	122					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	908120	908120	+	Silent	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:908120C>T	uc003jbr.3	+	7	835	c.690C>T	c.(688-690)acC>acT	p.T230T	TRIP13_uc010ite.2_Silent_p.T230T	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	230					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AGCTGGTAACCAAGATGTTTC	0.498000													30	66					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34643683	34643683	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:34643683G>C	uc001bxt.3	+	0	1131	c.293G>C	c.(292-294)aGa>aCa	p.R98T	C1orf94_uc001bxs.4_Intron	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	0							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAACTCTAAGAGGCAATGAG	0.537000													22	44					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212822	55212822	+	Silent	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:55212822T>C	uc003jql.3	+	14	2361	c.2169T>C	c.(2167-2169)ggT>ggC	p.G723G	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Silent_p.G704G|IL31RA_uc003jqo.3_Silent_p.G581G	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	691					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTTTTCTGGTCAAAGTTTAG	0.468000													36	96					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549611	27549611	+	Silent	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:27549611C>T	uc002dov.2	-	2	538	c.498G>A	c.(496-498)gaG>gaA	p.E166E	GTF3C1_uc002dou.3_Silent_p.E166E	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	166						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGGGATCCCCCTCCTGGCCTA	0.582000													15	44					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89650107	89650107	+	Silent	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:89650107T>A	uc002fnp.3	+	4	715	c.585T>A	c.(583-585)atT>atA	p.I195I	CPNE7_uc002fnq.3_Silent_p.I120I	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	195					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACTTACAGATTGTGGCCCAGA	0.672000													24	59					0	0	1	0	0
HTR7P1	93164	broad.mit.edu	37	12	13155263	13155263	+	RNA	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr12:13155263C>A	uc010shq.2	+	0		c.1888C>A			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.																		TACCTGGCTTCCCTCGAGTGG	0.522000													4	14					0.000602214	0.000633703	1	1	0
KIF2A	3796	broad.mit.edu	37	5	61662304	61662304	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:61662304A>T	uc003jsy.4	+	15	1953	c.1642A>T	c.(1642-1644)Aat>Tat	p.N548Y	KIF2A_uc003jsz.4_Missense_Mutation_p.N548Y|KIF2A_uc003jsx.4_Missense_Mutation_p.N528Y|KIF2A_uc010iwp.3_Missense_Mutation_p.N529Y|KIF2A_uc010iwq.3_Missense_Mutation_p.N351Y	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	548	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAGATATGCAAATAGGTATGA	0.368000													21	78					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952865	119952865	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:119952865T>A	uc010inb.3	+	3	3131	c.2935T>A	c.(2935-2937)Ttc>Atc	p.F979I	SYNPO2_uc010ina.3_Missense_Mutation_p.F979I|SYNPO2_uc003icm.4_Missense_Mutation_p.F979I|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.F907I|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	979						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTGTTTACTTTCCAACCTCC	0.498000													24	100					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530875	140530875	+	Missense_Mutation	SNP	C	C	T	rs144190549		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:140530875C>T	uc003lir.3	+	0	1037	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	346					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAACTCACCATGTCGTTC	0.478000													6	102					0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17925092	17925092	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:17925092G>A	uc002gse.1	-	5	736	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	ATPAF2_uc002gsd.1_Intron	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA.	195					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GATGCCAGGTGGCTGACGAGC	0.547000													30	71					0	0	1	0	0
KCNE2	9992	broad.mit.edu	37	21	35743124	35743124	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr21:35743124C>T	uc021wis.1	+	0	347	c.347C>T	c.(346-348)gCg>gTg	p.A116V	KCNE2_uc002ytt.1_Missense_Mutation_p.A116V	NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 2 (KCNE2), mRNA.	116					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						AACATTGGTGCGGCTGGGTTC	0.488000													24	69					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1082889	1082889	+	Silent	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:1082889G>T	uc002lqz.1	+	19	2799	c.2568G>T	c.(2566-2568)ctG>ctT	p.L856L	HMHA1_uc010xgd.1_Silent_p.L872L|HMHA1_uc010xge.1_Silent_p.L724L|HMHA1_uc002lra.1_Silent_p.L696L|HMHA1_uc002lrb.1_Silent_p.L739L|HMHA1_uc002lrc.1_Silent_p.L491L	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	856	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCGTAGGGCTGGCCAAGGACA	0.711000													11	22					1.67942e-08	1.86473e-08	1	1	0
AP4E1	23431	broad.mit.edu	37	15	51285700	51285700	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr15:51285700G>T	uc001zyx.2	+	16	2331	c.2224G>T	c.(2224-2226)Gat>Tat	p.D742Y	AP4E1_uc021skz.1_Missense_Mutation_p.D667Y	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	742					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGAGAATGTAGATCAAGCTAT	0.408000													7	43					0.00307968	0.00317839	1	1	0
CDH12	1010	broad.mit.edu	37	5	21752166	21752166	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:21752166T>C	uc010iuc.2	-	11	2523	c.2065A>G	c.(2065-2067)Att>Gtt	p.I689V	CDH12_uc011cno.1_Missense_Mutation_p.I649V|CDH12_uc003jgk.2_Missense_Mutation_p.I689V|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCCTGCGAATTTTGTTCTCC	0.458000										HNSCC(59;0.17)			53	133					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100466248	100466248	+	Silent	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:100466248C>T	uc003uww.3	+	3	665	c.495C>T	c.(493-495)ggC>ggT	p.G165G	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Silent_p.G144G|TRIP6_uc022ait.1_Intron|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	165					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCGGCTGGCCCAGCCTTCC	0.721000													22	41					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17366410	17366410	+	Silent	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:17366410G>A	uc002nfs.1	-	9	1589	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	USHBP1_uc002nfr.1_Silent_p.A118A|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.A428A	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	492							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGTCCGCCAGGGCCTCCTGTG	0.632000													12	55					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104901192	104901192	+	Silent	SNP	A	A	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:104901192A>C	uc001pim.4	-	4	492	c.492T>G	c.(490-492)ctT>ctG	p.L164L	CASP1_uc001pig.3_Silent_p.L71L|CASP1_uc021qpq.1_Silent_p.L143L|CASP1_uc021qpr.1_Silent_p.L71L|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Silent_p.L164L|CASP1_uc021qpt.1_Silent_p.L71L|CASP1_uc010rve.2_Silent_p.L164L|CASP1_uc010rvf.2_Silent_p.L71L|CASP1_uc010rvg.2_Silent_p.L143L|CASP1_uc010rvh.2_Silent_p.L71L|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Silent_p.L143L|CASP1_uc021qpu.1_Silent_p.L71L|CASP1_uc021qpv.1_Silent_p.L143L|CASP1_uc021qpw.1_Silent_p.L71L|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Silent_p.L164L|CASP1_uc009yxj.3_Silent_p.L9L|CASP1_uc010rvk.2_Silent_p.L125L|CASP1_uc010rvl.2_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	164					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TAATGAGAGCAAGACGTGTGC	0.403000													13	39					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228511117	228511117	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:228511117G>A	uc009xez.1	+	55	15506	c.15462G>A	c.(15460-15462)atG>atA	p.M5154I	OBSCN_uc001hsn.3_Missense_Mutation_p.M5154I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5154	Ig-like 49.				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)				GTCAGCCCATGCCCAGTGTGC	0.522000													18	69					0	0	1	0	0
C17orf81	23587	broad.mit.edu	37	17	7157996	7157996	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:7157996T>C	uc002gfg.1	+	4	438	c.331T>C	c.(331-333)Tgc>Cgc	p.C111R	CTDNEP1_uc002gfe.2_5'Flank|C17orf81_uc010cmb.3_Missense_Mutation_p.C111R|C17orf81_uc002gfh.1_Missense_Mutation_p.C111R|C17orf81_uc002gfi.1_Missense_Mutation_p.C111R|C17orf81_uc002gfj.3_Missense_Mutation_p.C111R|C17orf81_uc002gfk.1_Missense_Mutation_p.C111R	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	Homo sapiens chromosome 17 open reading frame 81 (C17orf81), transcript variant 4, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			breast(2)|endometrium(2)|lung(9)|urinary_tract(1)	14						GAGAGCCATGTGCAAGAGGAC	0.562000													17	45					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52509756	52509756	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr13:52509756A>G	uc001vfw.2	-	19	4254	c.4097T>C	c.(4096-4098)gTg>gCg	p.V1366A	ATP7B_uc001vfy.2_Missense_Mutation_p.V1255A|ATP7B_uc010adv.2_Missense_Mutation_p.V936A|ATP7B_uc001vfx.2_Missense_Mutation_p.V1159A|ATP7B_uc010tgt.1_Missense_Mutation_p.V1301A|ATP7B_uc010tgu.1_Missense_Mutation_p.V1318A|ATP7B_uc010tgv.1_Missense_Mutation_p.V1288A|ATP7B_uc001vfv.2_Missense_Mutation_p.V638A|ATP7B_uc010tgs.1_Missense_Mutation_p.V577A	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1366					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGAGAGCACCACAGACACAGA	0.592000									Wilson disease				32	91					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41043810	41043810	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:41043810C>T	uc004dfb.3	+	22	4073	c.3440C>T	c.(3439-3441)gCc>gTc	p.A1147V	USP9X_uc004dfc.3_Missense_Mutation_p.A1147V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1147					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						CGAAGGGGTGCCTACCTCAAT	0.463000													59	62					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155292770	155292770	+	Silent	SNP	A	A	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:155292770A>C	uc001fkj.2	+	1	1435	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1-AS1_uc001fkh.1_5'Flank|RUSC1-AS1_uc001fki.3_Intron|RUSC1_uc001fkk.2_Silent_p.P402P|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	402						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726000													3	3					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627181	31627181	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr20:31627181C>A	uc010zuc.2	+	9	929	c.929C>A	c.(928-930)cCc>cAc	p.P310H	BPIFB6_uc010zud.2_Missense_Mutation_p.P249H	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	310						extracellular region	lipid binding										AAGTCAAAGCCCTTGACGACC	0.522000													30	47					1.06801e-11	1.22821e-11	1	1	0
FLJ36000	284124	broad.mit.edu	37	17	21904083	21904083	+	RNA	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:21904083C>A	uc002gza.2	+	0		c.22C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgacctctccacggggtcca	0.677000													3	14					0.150653	0.153514	1	1	0
FAT1	2195	broad.mit.edu	37	4	187517964	187517964	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:187517964C>G	uc003izf.3	-	24	12918	c.12730G>C	c.(12730-12732)Gac>Cac	p.D4244H	FAT1_uc010isn.3_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4244					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTATGTCTGAGTAAATG	0.478000										HNSCC(5;0.00058)			24	66					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21970293	21970293	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:21970293T>A	uc021pny.1	+	10	1654	c.1654T>A	c.(1654-1656)Tgc>Agc	p.C552S	MLLT10_uc001iqs.3_Missense_Mutation_p.C552S|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.C552S|MLLT10_uc001ira.3_Missense_Mutation_p.C9S|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	552	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGATGGAGcttgcccaacaac	0.428000			T	"""MLL, PICALM, CDK6"""	AL								24	57					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55713427	55713427	+	Missense_Mutation	SNP	T	T	C	rs139848790	byFrequency	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:55713427T>C	uc002qjq.3	-	5	1223	c.1150A>G	c.(1150-1152)Aca>Gca	p.T384A	PTPRH_uc010esv.3_Missense_Mutation_p.T206A|PTPRH_uc002qjs.2_Missense_Mutation_p.T391A	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	384	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T383T(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCTCACCTGTGGTGGCATTT	0.488000													7	123					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72960096	72960096	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:72960096C>G	uc003pga.3	+	12	2382	c.2305C>G	c.(2305-2307)Cta>Gta	p.L769V	RIMS1_uc011dyb.2_Missense_Mutation_p.L395V|RIMS1_uc003pgc.3_Missense_Mutation_p.L395V|RIMS1_uc010kaq.3_Missense_Mutation_p.L243V|RIMS1_uc011dyc.2_Missense_Mutation_p.L243V|RIMS1_uc010kar.3_Missense_Mutation_p.L162V|RIMS1_uc011dyd.2_Missense_Mutation_p.L228V|RIMS1_uc003pge.3_5'UTR|RIMS1_uc003pgf.3_5'UTR|RIMS1_uc003pgi.3_5'UTR|RIMS1_uc003pgg.3_5'UTR|RIMS1_uc003pgh.3_5'UTR|RIMS1_uc003pgd.3_5'UTR|RIMS1_uc011dye.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.L395V|RIMS1_uc010kas.1_Missense_Mutation_p.L228V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	769	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCAACAGATCTACCTGCTAG	0.348000													11	58					0	0	1	0	0
AOC4	90586	broad.mit.edu	37	17	41019876	41019876	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:41019876T>G	uc002ibw.1	+	0	715	c.581T>G	c.(580-582)cTc>cGc	p.L194R	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		TCTGGGCTTCTCCATCACTGT	0.602000													33	93					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55642723	55642723	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr14:55642723C>A	uc001xbs.3	-	8	1280	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	DLGAP5_uc001xbt.3_Missense_Mutation_p.A355S	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	355					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTTTGTTGCTTGAGACTCA	0.313000													10	54					0.335167	0.337262	1	1	0
ZNF674	641339	broad.mit.edu	37	X	46359899	46359899	+	Missense_Mutation	SNP	A	A	C	rs142411452	by1000genomes	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:46359899A>C	uc004dgr.3	-	5	1352	c.1125T>G	c.(1123-1125)caT>caG	p.H375Q	ZNF674_uc011mlg.2_Missense_Mutation_p.H369Q|ZNF674_uc022bvl.1_Missense_Mutation_p.H370Q	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GAGTTCTCCAATGTTTAGTGG	0.413000													5	74					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56504731	56504731	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:56504731C>T	uc003pcy.4	-	4	1112	c.1004G>A	c.(1003-1005)aGt>aAt	p.S335N	DST_uc021zay.1_Missense_Mutation_p.S701N|DST_uc011dxl.1_Missense_Mutation_p.S690N|DST_uc021zax.1_Missense_Mutation_p.S335N|DST_uc003pdc.4_Missense_Mutation_p.S335N|DST_uc003pdd.4_Missense_Mutation_p.S335N|DST_uc003pde.2_Missense_Mutation_p.S777N	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	661					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATACCTCACTGATTTTAGC	0.284000													28	46					0	0	1	0	0
ANKRD18B	441459	broad.mit.edu	37	9	33550538	33550538	+	Silent	SNP	A	A	G	rs114003632	by1000genomes	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr9:33550538A>G	uc010mjw.2	+	9	2066	c.1989A>G	c.(1987-1989)acA>acG	p.T663T		NM_001244752	NP_001231681			Homo sapiens ankyrin repeat domain 18B (ANKRD18B), mRNA.											NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TGGATGAGACATGGACTTCAA	0.328000													9	161					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489700	58489700	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:58489700T>C	uc002qqw.3	-	6	2966	c.2348A>G	c.(2347-2349)cAg>cGg	p.Q783R	ZNF606_uc010yhp.2_Missense_Mutation_p.Q693R	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		GTGATTTCTCTGGTGTTGAAG	0.368000													36	98					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21889674	21889674	+	Silent	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:21889674C>A	uc001bet.3	+	4	626	c.369C>A	c.(367-369)gcC>gcA	p.A123A	ALPL_uc010odo.2_Silent_p.A68A|ALPL_uc010odp.2_Silent_p.A46A|ALPL_uc010odn.2_Silent_p.A71A|ALPL_uc001beu.4_Silent_p.A123A	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	123					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGGTGAAGGCCAATGAGGGCA	0.652000													60	93					6.25564e-26	7.40558e-26	1	1	0
G2E3	55632	broad.mit.edu	37	14	31081505	31081505	+	Silent	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr14:31081505G>A	uc001wqk.2	+	12	1747	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	G2E3_uc010tpf.1_Silent_p.T485T|G2E3_uc001wql.1_Silent_p.T43T	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	531	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.I530L(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GACTTATAACGACATTAAGTG	0.313000													35	121					0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13883025	13883025	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:13883025A>T	uc002mxe.3	+	5	1106	c.1040A>T	c.(1039-1041)gAg>gTg	p.E347V	MRI1_uc002mxf.3_Missense_Mutation_p.E300V|C19orf53_uc002mxg.3_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	347					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding	p.E347*(1)|p.E347D(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TTTGCCCCTGAGGAGCTCCGG	0.577000													40	132					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14211641	14211641	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:14211641A>G	uc002myc.3	-	4	616	c.416T>C	c.(415-417)tTc>tCc	p.F139S	PRKACA_uc002myb.3_Missense_Mutation_p.F131S|PRKACA_uc010xnm.1_Missense_Mutation_p.F81S|PRKACA_uc002myd.3_Missense_Mutation_p.F81S	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	139	Protein kinase.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CGCTTACCTGAACCTTCCGAT	0.592000													33	68					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87570377	87570377	+	Nonstop_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:87570377T>C	uc010osk.2	+	6	1454	c.1069T>C	c.(1069-1071)Tga>Cga	p.*357R	HS2ST1_uc001dme.2_Intron	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	0						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TAAGTCGAACTGAGTATAAGG	0.413000													12	27					0	0	1	0	0
RABIF	5877	broad.mit.edu	37	1	202850297	202850297	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:202850297C>T	uc001gyl.3	-	1	340	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_002871	NP_002862	P47224	MSS4_HUMAN	Homo sapiens RAB interacting factor (RABIF), mRNA.	61					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGATCGCCGTCAGGATTGCTG	0.507000													14	25					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187210	12187210	+	Silent	SNP	A	A	G	rs6511764	by1000genomes	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:12187210A>G	uc002mtb.2	+	3	1418	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_uc010dym.1_Silent_p.V268V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428000													3	25					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90321562	90321562	+	Silent	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr15:90321562C>T	uc002bon.3	+	1	1191	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	MESP2_uc010uqa.2_Silent_p.Y99Y	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	397					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GCATCTTCTACTAAATGGCCT	0.537000													19	71					0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25288439	25288439	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:25288439G>T	uc001isg.1	-	1	279	c.114C>A	c.(112-114)gaC>gaA	p.D38E	ENKUR_uc001ish.1_Intron	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	38						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTTTTTGCATGTCATCTTTTA	0.299000													14	53					3.32936e-07	3.6218e-07	1	1	0
ACTB	60	broad.mit.edu	37	7	5567474	5567474	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:5567474T>G	uc003sot.4	-	5	1117	c.1033A>C	c.(1033-1035)Atc>Ctc	p.I345L	ACTB_uc003sor.4_Missense_Mutation_p.I223L|ACTB_uc003soq.4_Missense_Mutation_p.I223L	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	345					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAGGCCAGGATGGAGCCGCCG	0.607000													7	73					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44116986	44116986	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr2:44116986C>G	uc002rtr.2	-	36	4073	c.4015G>C	c.(4015-4017)Gca>Cca	p.A1339P		NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1339	RNA-binding.				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATACAGTGCTTTAGCAGAT	0.363000													41	144					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5653148	5653148	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:5653148C>T	uc002mcg.3	+	9	1487	c.1316C>T	c.(1315-1317)aCa>aTa	p.T439I	SAFB_uc002mcf.3_Missense_Mutation_p.T439I|SAFB_uc002mce.4_Missense_Mutation_p.T439I|SAFB_uc010xis.2_Missense_Mutation_p.T370I|SAFB_uc010xit.2_Missense_Mutation_p.T282I|SAFB_uc010xir.2_Missense_Mutation_p.T439I|SAFB_uc010xiu.2_Missense_Mutation_p.T238I	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	439	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAGGTTGTGACAAATGCCCGG	0.547000													45	104					0	0	1	0	0
ATPAF1-AS1	374973	broad.mit.edu	37	1	47138819	47138819	+	Missense_Mutation	SNP	T	T	G	rs614486	by1000genomes	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:47138819T>G	uc001cqj.3	+	1	422	c.312T>G	c.(310-312)gaT>gaG	p.D104E	KIAA0494_uc010omh.1_Intron|ATPAF1-AS1_uc010omi.2_Missense_Mutation_p.D28E|LOC100130197_uc021ond.1_5'Flank|LOC100130197_uc021one.1_5'Flank	NM_001145474	NP_001138946	Q6PEX7	ATAS1_HUMAN	Homo sapiens ATPAF1 antisense RNA 1 (non-protein coding) (ATPAF1-AS1), mRNA.	104			D -> E (in dbSNP:rs614486).			integral to membrane				endometrium(3)	3						TTCTGTGGGATTTGGACATCC	0.612000													5	51					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151107816	151107816	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:151107816T>G	uc003eyp.3	+	35	5525	c.5396T>G	c.(5395-5397)aTc>aGc	p.I1799S	MED12L_uc011bnz.2_Missense_Mutation_p.I1659S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1799					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTCGCCTATCTCCTCCCAA	0.468000													30	43					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124796777	124796777	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr8:124796777G>C	uc003yqv.3	+	8	832	c.771G>C	c.(769-771)aaG>aaC	p.K257N	FAM91A1_uc011lik.1_Missense_Mutation_p.K257N|FAM91A1_uc011lil.2_Missense_Mutation_p.K15N	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	257										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TACTCTATAAGATATTTGTTT	0.328000													6	23					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118544	118544	+	RNA	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrGL000205.1:118544A>G	uc002kgk.4	+	0		c.1922A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGATAATCTAAGAGAAAAAGA	0.408000													3	26					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104103846	104103846	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:104103846T>G	uc001kux.2	+	3	496	c.202T>G	c.(202-204)Ttt>Gtt	p.F68V	GBF1_uc001kuw.3_Missense_Mutation_p.F68V|GBF1_uc001kuy.2_Missense_Mutation_p.F68V|GBF1_uc001kuz.2_Missense_Mutation_p.F68V	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	68					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTTCGACCTTTTCTGGAAGT	0.428000													23	75					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11500346	11500346	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:11500346C>T	uc021zzo.1	-	10	2800	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	THSD7A_uc021zzn.1_Missense_Mutation_p.V850M	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	850						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)		TCTTGTTGCACGCTCCAAGGG	0.552000										HNSCC(18;0.044)			7	42					0	0	1	0	0
CCDC168	643677	broad.mit.edu	37	13	103388370	103388370	+	Missense_Mutation	SNP	C	C	T	rs9518825	by1000genomes	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr13:103388370C>T	uc001vpm.3	-	3	14817	c.14677G>A	c.(14677-14679)Ggt>Agt	p.G4893S		NM_001146197	NP_001139669			Homo sapiens coiled-coil domain containing 168 (CCDC168), mRNA.									p.G264S(2)									AGTATTCTACCTTCCCTGCCT	0.398000													5	77					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614800	175614800	+	Silent	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr2:175614800G>A	uc002ujd.2	-	7	1029	c.951C>T	c.(949-951)ccC>ccT	p.P317P	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Silent_p.P292P	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	317					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TTCCAATCAAGGGCACAGCAC	0.517000													19	99					0	0	1	0	0
SLC25A36	55186	broad.mit.edu	37	3	140675502	140675502	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:140675502G>A	uc003etr.2	+	1	410	c.175G>A	c.(175-177)Gta>Ata	p.V59I	SLC25A36_uc003etp.3_Missense_Mutation_p.V59I|SLC25A36_uc003ets.2_Missense_Mutation_p.V59I|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.V59I	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	59					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TGTCAACCGAGTAGTGTCTCC	0.433000													23	36					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149921206	149921206	+	Silent	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:149921206C>T	uc003lsk.4	+	8	2326	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L	NDST1_uc011dcj.2_Silent_p.L608L	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	608	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGCTCCTCATCATCGGCC	0.552000													24	55					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281521	45281521	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:45281521C>G	uc002ozs.3	+	0	396	c.333C>G	c.(331-333)ttC>ttG	p.F111L	CBLC_uc010ejt.3_Missense_Mutation_p.F111L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	111	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACGAGCTCTTCCGGGCGGGCT	0.657000			M		AML								3	11					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118651868	118651868	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr12:118651868A>T	uc001twx.3	-	9	986	c.691T>A	c.(691-693)Tat>Aat	p.Y231N	TAOK3_uc001tww.3_Missense_Mutation_p.Y61N|TAOK3_uc001twy.4_Missense_Mutation_p.Y231N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	231	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATGTGATATAAGGCACTC	0.413000													14	51					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639217	158639217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:158639217delG	uc001fst.1	-	13	2013	c.1814delC	c.(1813-1815)gcafs	p.A605fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	605					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATCATCTGCCAACTTTTT	0.408													19	55	---	---	---	---					
DOK7	285489	broad.mit.edu	37	4	3478120	3478121	+	Frame_Shift_Ins	INS	-	-	GGCTA			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:3478120_3478121insGGCTA	uc003ghd.3	+	3	453_454	c.383_384insGGCTA	c.(382-384)ccgfs	p.P128fs	DOK7_uc003ghe.3_Frame_Shift_Ins_p.P128fs	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	128	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAGAGCGGCCCGGCTACCCTGC	0.668													21	65	---	---	---	---					
SRD5A1	6715	broad.mit.edu	37	5	6663046	6663047	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:6663046_6663047insT	uc003jdw.3	+	3	870_871	c.680_681insT	c.(679-681)tgtfs	p.C227fs	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Frame_Shift_Ins_p.C180fs	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	227					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TTCACGTTTTGTTTTTTATCTG	0.396													23	68	---	---	---	---					
SLC12A2	6558	broad.mit.edu	37	5	127420207	127420209	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:127420207_127420209delCGG	uc003kus.3	+	0	725_727	c.561_563delCGG	c.(559-564)tccggc>tcc	p.G192del	FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_In_Frame_Del_p.G192del	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	192	Poly-Gly.				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGCACTCCGGCGGCGGCGGC	0.650													10	184	---	---	---	---					
NCR2	9436	broad.mit.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:41303645_41303647delCTG	uc003oqh.2	+	0	118_120	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	NCR2_uc003oqj.2_In_Frame_Del_p.L15del|NCR2_uc003oqi.2_In_Frame_Del_p.L15del	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	15					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635													8	383	---	---	---	---					
AKD1	221264	broad.mit.edu	37	6	109977966	109977966	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:109977966delG	uc003ptn.2	-	7	829	c.752delC	c.(751-753)actfs	p.T251fs	AKD1_uc003ptr.4_Frame_Shift_Del_p.T251fs|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	251	Glu-rich.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACTTCTAAAGTTTGGAGAAT	0.318													32	72	---	---	---	---					
GPR85	54329	broad.mit.edu	37	7	112724144	112724146	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:112724144_112724146delATC	uc010ljv.2	-	1	1148_1150	c.631_633delGAT	c.(631-633)gatdel	p.D211del	GPR85_uc003vgp.1_In_Frame_Del_p.D211del|GPR85_uc003vgq.2_In_Frame_Del_p.D211del|GPR85_uc010ljw.1_In_Frame_Del_p.D211del|GPR85_uc022akd.1_In_Frame_Del_p.D211del	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	211						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTTTTCTTCGATCGTGGACGAAA	0.493													14	51	---	---	---	---					
RBM28	55131	broad.mit.edu	37	7	127958110	127958111	+	In_Frame_Ins	INS	-	-	GAC			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:127958110_127958111insGAC	uc003vmp.2	-	14	1727_1728	c.1612_1613insGTC	c.(1612-1614)cag>cGTCag	p.537_538insR	RBM28_uc011koj.1_In_Frame_Ins_p.396_397insR	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	537	RRM 4.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCCCAGGGACTGACCCTTCATG	0.485													19	68	---	---	---	---					
LSM1	27257	broad.mit.edu	37	8	38027436	38027436	+	Splice_Site	DEL	C	C	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr8:38027436delC	uc003xkw.3	-	3	526	c.116_splice	c.e3-1	p.A39_splice	LSM1_uc003xkx.3_Splice_Site|LSM1_uc022atz.1_Intron	NM_014462	NP_055277	O15116	LSM1_HUMAN	Homo sapiens LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM1), transcript variant 1, mRNA.	39					RNA splicing, via transesterification reactions|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing	cytosol|nucleus|ribonucleoprotein complex	RNA binding|protein binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ACTAAGTTTGCTGTAAGTGTA	0.363													33	96	---	---	---	---					
CBWD5	220869	broad.mit.edu	37	9	70182326	70182326	+	RNA	DEL	A	A	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr9:70182326delA	uc004afw.3	-	2		c.1786delT						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TTTAATTTTCAAAAAAGGTTT	0.229													2	4	---	---	---	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr14:23845057_23845058delTG	uc001wjr.3	+	1	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_uc001wjq.3_Frame_Shift_Del_p.C152fs|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													7	132	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26675218	26675218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:26675218delA	uc002haz.3	-	11	1156	c.1026delT	c.(1024-1026)tttfs	p.F342fs	POLDIP2_uc010wag.2_Non-coding_Transcript	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	344	ApaG.					mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCCGAACATCAAAGTGGGAGC	0.547													20	80	---	---	---	---					
NDC80	10403	broad.mit.edu	37	18	2610806	2610806	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr18:2610806delA	uc002kli.3	+	15	1919	c.1737delA	c.(1735-1737)ggafs	p.G579fs		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	579	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAAAAGTGGGAAATAACTTGC	0.368													36	122	---	---	---	---					
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr18:55103477_55103479delCAC	uc002lgo.3	+	0	561_563	c.529_531delCAC	c.(529-531)cacdel	p.H184del		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	184	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655													7	57	---	---	---	---					
NCAN	1463	broad.mit.edu	37	19	19360601	19360603	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:19360601_19360603delCAC	uc002nlz.3	+	14	3946_3948	c.3847_3849delCAC	c.(3847-3849)cacdel	p.H1287del	NCAN_uc002nma.3_In_Frame_Del_p.T43del	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1287					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.H1287Q(2)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GATGCGGCGAcaccaccaccacc	0.596													7	189	---	---	---	---					
C19orf40	91442	broad.mit.edu	37	19	33464971	33464972	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:33464971_33464972insA	uc002nud.4	+	3	367_368	c.249_250insA	c.(247-252)aataatfs	p.N83fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	83					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TCAAGTCCAATAATCTTAAAGG	0.406								Direct reversal of damage					43	130	---	---	---	---					
DMKN	93099	broad.mit.edu	37	19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	rs112672248	byFrequency	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	uc002nzm.4	-	4	1002_1052	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Intron|DMKN_uc002nzn.4_Intron|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_uc002oaa.4_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_uc002oab.4_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_uc002oac.4_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	273	Gly-rich.					extracellular region		p.S274_S290del(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641													16	15	---	---	---	---					
KCNJ15	3772	broad.mit.edu	37	21	39671646	39671649	+	Frame_Shift_Del	DEL	TTGA	TTGA	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr21:39671646_39671649delTTGA	uc021wjc.1	+	0	463_466	c.463_466delTTGA	c.(463-468)ttgattfs	p.L155fs	KCNJ15_uc002ywv.3_Frame_Shift_Del_p.L155fs|KCNJ15_uc002yww.3_Frame_Shift_Del_p.L155fs|KCNJ15_uc002ywx.3_Frame_Shift_Del_p.L155fs	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	155					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CATCACGACCTTGATTGAGATCTT	0.515													28	77	---	---	---	---					
