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
OTOF	9381	broad.mit.edu	37	2	26696969	26696969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:26696969C>T	uc002rhk.3	-	26	3425	c.3298G>A	c.(3298-3300)Gca>Aca	p.A1100T	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.A353T|OTOF_uc002rhi.3_Missense_Mutation_p.A410T|OTOF_uc002rhj.3_Missense_Mutation_p.A353T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1100					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTCCCTGCTGGTCCAATC	0.627000													4	73					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188528	152188528	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152188528G>A	uc001ezt.1	-	2	5653	c.5577C>T	c.(5575-5577)ggC>ggT	p.G1859G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1859					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCATGTCGGCCACTGCTGG	0.597000													85	890					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71787851	71787851	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:71787851A>T	uc004eau.3	-	3	667	c.325T>A	c.(325-327)Ttt>Att	p.F109I	HDAC8_uc011mqe.2_5'UTR|HDAC8_uc011mqg.2_Intron|HDAC8_uc011mqf.2_Intron|HDAC8_uc011mqh.2_Intron|HDAC8_uc010nlk.2_5'UTR|HDAC8_uc004eav.3_Missense_Mutation_p.F109I|HDAC8_uc022byv.1_Intron|HDAC8_uc022byw.1_Missense_Mutation_p.F109I|HDAC8_uc022byx.1_Missense_Mutation_p.F109I	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	109	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GCATAGTCAAATATCCCTTCA	0.478000													34	64					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148984433	148984433	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:148984433C>T	uc003ilf.3	+	20	2162	c.2162C>T	c.(2161-2163)gCg>gTg	p.A721V	ARHGAP10_uc003ilg.3_Intron|ARHGAP10_uc003ilh.3_Missense_Mutation_p.A302V|ARHGAP10_uc003ili.3_Missense_Mutation_p.A154V	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	721					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCTACTGTAGCGGACAAGCCA	0.532000													18	29					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32267721	32267721	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:32267721G>A	uc002wzu.4	-	2	552	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	138					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TCCAGGAAGCGCTTGGTGGTC	0.602000													32	60					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692910	89692910	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89692910G>A	uc001kfb.3	+	4	1426	c.394G>A	c.(394-396)Ggt>Agt	p.G132S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.G132S(6)|p.G132D(5)|p.?(5)|p.R55fs*1(5)|p.T131fs*3(3)|p.G132V(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.T131fs*42(2)|p.Y27_N212>Y(2)|p.T131I(1)|p.G132fs*2(1)|p.R130fs*2(1)|p.T131N(1)|p.T131fs*50(1)|p.T131P(1)|p.T131A(1)|p.G132R(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGACGAACTGGTGTAATGAT	0.398000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			122	79					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96139445	96139445	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:96139445G>A	uc004efv.4	+	0	539	c.136G>A	c.(136-138)Gtt>Att	p.V46I	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	46					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AATTCAGGACGTTGTACCGTG	0.498000								Other identified genes with known or suspected DNA repair function					38	40					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114163	66114163	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66114163C>A	uc001ohr.3	-	0	999	c.854G>T	c.(853-855)cGg>cTg	p.R285L	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	285					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ATAGAAGGGCCGCACCTCGCC	0.632000													52	58					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88386450	88386450	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:88386450G>A	uc001pcq.3	-	2	1233	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	GRM5_uc009yvm.3_Missense_Mutation_p.R345W	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	345					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GTTTCTGGCCGGAGCTTCAGA	0.458000													46	47					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54625988	54625988	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:54625988T>C	uc021smr.1	+	13	4512	c.4512T>C	c.(4510-4512)acT>acC	p.T1504T	UNC13C_uc021sms.1_Silent_p.T1506T|UNC13C_uc002acl.3_Silent_p.T336T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1506					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGCAATACTGAAAGACTGC	0.348000													7	13					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205290640	205290640	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:205290640C>T	uc001hce.3	-	0	244	c.117G>A	c.(115-117)gcG>gcA	p.A39A		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	39					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCGCTTCACCGCCTGCTTCT	0.672000													3	45					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106332030	106332030	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106332030T>C	uc004emz.3	-	4	617	c.563A>G	c.(562-564)aAc>aGc	p.N188S	RBM41_uc004emy.2_Missense_Mutation_p.N188S	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	188							RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACTTTCCAGGTTGTTCATGGG	0.408000													31	45					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328059	152328059	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152328059G>A	uc001ezw.4	-	2	2276	c.2203C>T	c.(2203-2205)Cat>Tat	p.H735Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	735	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATCCATGTTGGCCAAAG	0.498000													6	453					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14355246	14355246	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:14355246G>A	uc010uza.2	+	16	3400	c.3245G>A	c.(3244-3246)aGc>aAc	p.S1082N	MKL2_uc002dcg.3_Missense_Mutation_p.S1032N|MKL2_uc002dcj.3_Missense_Mutation_p.S327N	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	1071					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGCGCCGAGCATGTTCTCT	0.507000													35	45					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120190012	120190012	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120190012C>T	uc001txj.2	-	22	2803	c.2747G>A	c.(2746-2748)cGc>cAc	p.R916H	CIT_uc001txh.2_Missense_Mutation_p.R408H|CIT_uc001txi.2_Missense_Mutation_p.R874H	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	874					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTGAGCTGGCGCTTGAGCTC	0.582000													19	17					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232447	58232447	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58232447G>A	uc002qpz.4	-	3	1106	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.T259I|ZNF671_uc010yhf.2_Missense_Mutation_p.T238I	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCTTTCTCCAGTGTGAACTGT	0.463000													32	83					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19959451	19959451	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19959451G>A	uc002zqz.3	-	17	3009	c.2739C>T	c.(2737-2739)ggC>ggT	p.G913G	ARVCF_uc002zqy.3_Silent_p.G429G	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	913					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGAGCTGGCGCCCCGTGGCC	0.652000													22	40					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623411	623411	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:623411C>T	uc003wph.3	-	3	1006	c.941G>A	c.(940-942)gGt>gAt	p.G314D	ERICH1_uc003wpi.3_Missense_Mutation_p.G126D	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	314	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GGAGTCTGCACCCTCTTCCTC	0.567000													62	229					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42162110	42162110	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:42162110G>A	uc001zos.3	-	31	6010	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1928					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGTCGCTGCAGCACTGCCCAC	0.701000													6	4					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132171156	132171156	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:132171156G>A	uc011ecf.2	+	2	360	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	114	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.A113D(1)|p.E62*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCGCTGTTTCGAGAGAACATT	0.383000													67	53					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31637564	31637564	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:31637564A>G	uc001wrc.1	-	9	2051	c.1562T>C	c.(1561-1563)tTg>tCg	p.L521S	HECTD1_uc001wrd.1_Missense_Mutation_p.L36S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	521					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TAACCTTTTCAAGTATATGGG	0.348000													5	180					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17292527	17292527	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:17292527C>T	uc001azt.2	+	28	4678	c.4609C>T	c.(4609-4611)Cgc>Tgc	p.R1537C	CROCC_uc001azu.2_Missense_Mutation_p.R840C|CROCC_uc001azv.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1537					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCCTGAATCGCCAGCTGGC	0.637000													26	38					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121801	106121801	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106121801G>T	uc001kyh.3	+	2	446	c.312G>T	c.(310-312)aaG>aaT	p.K104N		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	104										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGGCCTGGAAGATGGTGGACT	0.448000													42	26					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151046250	151046250	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151046250G>A	uc003wjx.3	+	2	297	c.281G>A	c.(280-282)cGt>cAt	p.R94H	NUB1_uc022aqc.1_Missense_Mutation_p.R94H|NUB1_uc003wjw.3_Missense_Mutation_p.R70H|NUB1_uc003wjy.3_Non-coding_Transcript	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	70					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAATTGAGCGTGGAACAGGA	0.373000													38	56					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228474715	228474715	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:228474715C>T	uc009xez.1	+	34	9563	c.9519C>T	c.(9517-9519)tgC>tgT	p.C3173C	OBSCN_uc001hsn.3_Silent_p.C3173C|OBSCN_uc001hsq.1_Silent_p.C429C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3173	Ig-like 31.				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)				GGGGCGCCTGCAGCAGCTCCA	0.652000													3	9					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196799690	196799690	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:196799690C>T	uc001gtn.3	+	4	782	c.668C>T	c.(667-669)cCg>cTg	p.P223L	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.P127L	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	223	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACTTCATTCCCGTTGTCAGTA	0.413000													57	8					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974801	20974801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20974801C>A	uc010vbe.2	-	52	10405	c.10405G>T	c.(10405-10407)Gga>Tga	p.G3469*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.G904*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3469					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTCCAATCCTTGAGAGAAC	0.512000													18	29					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	152055715	152055715	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:152055715C>T	uc003wla.3	-	1	426	c.207G>A	c.(205-207)atG>atA	p.M69I		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	69					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCAGCCCATCCATGCTGTCCT	0.348000			N		medulloblastoma								65	105					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258732	51258732	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:51258732G>T	uc003tps.3	-	3	685	c.500C>A	c.(499-501)gCt>gAt	p.A167D	COBL_uc003tpr.4_Missense_Mutation_p.A167D|COBL_uc011kcl.2_Missense_Mutation_p.A167D|COBL_uc010kzc.3_Missense_Mutation_p.A167D|COBL_uc003tpt.3_Missense_Mutation_p.A167D|COBL_uc003tpp.4_5'UTR|COBL_uc003tpq.4_Missense_Mutation_p.A83D	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	167										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACGCACAACAGCTTTTTGTGT	0.488000													8	30					0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880445	84880445	+	Missense_Mutation	SNP	G	G	A	rs145614783	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:84880445G>A	uc001djt.1	+	5	1013	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DNASE2B_uc001dju.1_Missense_Mutation_p.R119Q|DNASE2B_uc009wch.1_Missense_Mutation_p.R119Q	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA.	327					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GACCTAAATCGGAGTCCACAC	0.403000													33	32					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152738148	152738148	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:152738148G>T	uc021zhb.1	-	38	5647	c.5424C>A	c.(5422-5424)gaC>gaA	p.D1808E	SYNE1_uc003qot.4_Missense_Mutation_p.D1815E|SYNE1_uc003qou.4_Missense_Mutation_p.D1808E|SYNE1_uc010kjb.1_Missense_Mutation_p.D1791E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1808					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGCGTGGTCCTGGAAGG	0.483000										HNSCC(10;0.0054)			95	66					0	0	1	0	0
PSEN1	5663	broad.mit.edu	37	14	73637521	73637521	+	Missense_Mutation	SNP	G	G	A	rs63750592		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:73637521G>A	uc001xnr.3	+	3	388	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PSEN1_uc001xnv.3_Missense_Mutation_p.R31Q|PSEN1_uc010ark.3_Missense_Mutation_p.R31Q|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript|PSEN1_uc001xnq.4_Missense_Mutation_p.R35Q	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	35					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum	PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AATAGAGAACGGCAGGAGCAC	0.478000													8	25					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218753	19218753	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:19218753T>C	uc002nlf.2	+	6	704	c.548T>C	c.(547-549)cTg>cCg	p.L183P		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	183					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GAAGAGGGGCTGAAGACTCTC	0.562000													118	88					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650090	79650090	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79650090T>C	uc002kbf.3	-	2	358	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	ARL16_uc021ufd.1_Silent_p.A37A|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	87							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATGGGGCCCATGCACCCCCCA	0.488000													22	207					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365461	36365461	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36365461G>A	uc002oce.3	+	8	1250	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	APLP1_uc010xsz.2_Missense_Mutation_p.R332H|APLP1_uc002ocf.3_Missense_Mutation_p.R371H|APLP1_uc002ocg.3_Missense_Mutation_p.R274H|APLP1_uc010xta.2_Missense_Mutation_p.R365H	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	371					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCGACAGCGCCTGGTGGAA	0.652000													75	86					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593988	16593988	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:16593988G>A	uc002gqk.1	+	0	350	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	92																	CCGGTCGGGCGACGTCCCTGG	0.642000													94	141					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24033540	24033540	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24033540A>G	uc001wkl.2	-	10	1314	c.977_splice	c.e10+1	p.R326_splice	AP1G2_uc001wkk.3_Splice_Site_p.R254_splice|AP1G2_uc001wkn.2_Splice_Site|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Splice_Site|AP1G2_uc010tnp.1_Splice_Site_p.R326_splice	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	326					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGACTATTACCTAATGTTC	0.512000													30	42					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:892379C>T	uc009vjq.3	-	3	440	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Silent_p.A127A	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	127						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTTCCTCCGCTCCATCCT	0.582000													79	103					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:37693106C>T	uc003xkj.3	+	12	2254	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	623					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGCTGCCCCCGAGTCTATTC	0.647000													82	298					0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34668216	34668216	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:34668216C>T	uc021qfu.1	+	2	520	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	EHF_uc001mvr.2_Missense_Mutation_p.H110Y|EHF_uc009yke.2_Missense_Mutation_p.H110Y|EHF_uc009ykf.2_Missense_Mutation_p.H113Y	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	110					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CAACTTGCAGCATCTGAAGTG	0.552000													97	140					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123348433	123348433	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123348433C>T	uc003ego.3	-	29	5284	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K	MYLK-AS1_uc003egk.3_Non-coding_Transcript|MYLK_uc010hrr.3_Missense_Mutation_p.E103K|MYLK_uc011bjv.2_Missense_Mutation_p.E468K|MYLK_uc011bjw.2_Missense_Mutation_p.E1668K|MYLK_uc003egp.3_Missense_Mutation_p.E1599K|MYLK_uc003egq.3_Intron|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.E1492K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1668	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCAAGGTTTCGTTATCGTTG	0.557000													38	35					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980772	40980772	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:40980772T>C	uc002xkg.3	-	9	1898	c.1714A>G	c.(1714-1716)Aag>Gag	p.K572E	PTPRT_uc010ggj.3_Missense_Mutation_p.K572E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	572	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAAAGCCCTTTGCTGTGCTG	0.517000													48	101					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67863714G>A	uc002eun.4	-	11	1689	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_uc010vkc.2_Silent_p.D138D|CENPT_uc010vkd.1_Silent_p.D133D|CENPT_uc010vke.1_3'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612000													72	82					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419539	123419539	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123419539G>A	uc003ego.3	-	17	3058	c.2776C>T	c.(2776-2778)Cgt>Tgt	p.R926C	MYLK_uc011bjw.2_Missense_Mutation_p.R926C|MYLK_uc003egp.3_Missense_Mutation_p.R857C|MYLK_uc003egq.3_Missense_Mutation_p.R926C|MYLK_uc003egr.3_Missense_Mutation_p.R857C|MYLK_uc003egs.3_Missense_Mutation_p.R750C|MYLK_uc003egt.3_Missense_Mutation_p.R117C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	926	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGTTGGCACGGAAATCCATC	0.572000													37	54					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730213	140730213	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140730213G>A	uc003ljo.2	+	0	386	c.386G>A	c.(385-387)cGt>cAt	p.R129H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.R129H	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	132	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCACCACGTTTCGTTGCA	0.418000													35	77					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60747588	60747588	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:60747588C>A	uc002agp.3	-	6	955	c.720G>T	c.(718-720)caG>caT	p.Q240H	NARG2_uc002ago.3_Missense_Mutation_p.Q103H|NARG2_uc002agq.4_5'Flank|NARG2_uc010bgk.3_Missense_Mutation_p.Q240H|NARG2_uc002agr.1_Missense_Mutation_p.Q240H	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	240						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCTTTGACAGCTGCAACTTTA	0.333000													53	56					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144800992	144800992	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144800992G>A	uc003yzj.3	+	4	375	c.334G>A	c.(334-336)Gtc>Atc	p.V112I		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	112	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGCAGGACGTCCACGTGCG	0.692000													14	33					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53247577	53247577	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:53247577G>T	uc004drz.3	-	2	765	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Missense_Mutation_p.Q78K	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	78					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACTCTCGTCTGGGCCTGAAGA	0.512000			"""N, F, S"""		clear cell renal carcinoma								24	48					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888361	183888361	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183888361G>A	uc003fms.3	+	14	2109	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	DVL3_uc011bqw.2_Missense_Mutation_p.G640R|DVL3_uc003fmt.3_Missense_Mutation_p.G328R|DVL3_uc003fmu.3_Missense_Mutation_p.G489R	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	657					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGTCCTCCCGGAGTGCCCCC	0.746000													19	13					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93221892	93221892	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:93221892G>T	uc010qnm.1	+	4	651	c.551G>T	c.(550-552)gGg>gTg	p.G184V	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.G184V|HECTD2_uc001khl.2_Missense_Mutation_p.G184V|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	184					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAGACTCTGGGATTAATGCT	0.294000													43	164					0	0	1	0	0
NKPD1	284353	broad.mit.edu	37	19	45655971	45655971	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:45655971G>A	uc010xxi.2	-	3	1724	c.1724C>T	c.(1723-1725)gCg>gTg	p.A575V	NKPD1_uc021uvt.1_Missense_Mutation_p.A353V	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCCTGCACCGCCAGCAGCTG	0.741000													5	8					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899379	94899379	+	Missense_Mutation	SNP	G	G	A	rs142627007	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:94899379G>A	uc002btj.3	+	7	1084	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	MCTP2_uc010urg.1_Missense_Mutation_p.R340H|MCTP2_uc002bti.2_Missense_Mutation_p.R340H|MCTP2_uc010boj.3_Missense_Mutation_p.R69H|MCTP2_uc010bok.3_Missense_Mutation_p.R340H|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	340					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTTTGATACGCAACCTACGG	0.388000													37	75					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44036491	44036491	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:44036491C>A	uc002lcb.1	+	7	984	c.933C>A	c.(931-933)ccC>ccA	p.P311P	RNF165_uc002lby.1_Silent_p.P244P|RNF165_uc010dnn.1_Silent_p.P107P	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	311							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GACGCCTACCCTGTATGCATC	0.592000													52	70					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627364	140627364	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140627364A>G	uc003lje.3	+	0	2218	c.2218A>G	c.(2218-2220)Agc>Ggc	p.S740G		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	740					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S740N(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGACGTGAGCGGCACCGG	0.602000													207	134					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49392006	49392006	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49392006C>T	uc001rsv.1	-	1	671	c.653G>A	c.(652-654)cGa>cAa	p.R218Q		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	218	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		p.K217K(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCAGCGGCGTCGTGGGGCGGT	0.716000													27	40					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043378	51043378	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51043378G>A	uc003bmx.3	+	5	1765	c.1648G>A	c.(1648-1650)Gcg>Acg	p.A550T	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.A523T|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	551					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGGCGGGCGCGGCGCTGCT	0.682000													22	20					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186567832	186567832	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:186567832T>C	uc003iyg.3	-	8	964	c.932A>G	c.(931-933)cAt>cGt	p.H311R	SORBS2_uc003iyh.3_Missense_Mutation_p.H404R|SORBS2_uc011ckw.2_Missense_Mutation_p.H294R|SORBS2_uc003iyi.3_Missense_Mutation_p.H311R|SORBS2_uc011ckx.2_Missense_Mutation_p.H271R|SORBS2_uc003iyk.3_Missense_Mutation_p.H296R|SORBS2_uc003iym.3_Missense_Mutation_p.H325R|SORBS2_uc003iyl.3_Missense_Mutation_p.H225R|SORBS2_uc003iyn.1_Missense_Mutation_p.H271R|SORBS2_uc011cky.1_Missense_Mutation_p.H288R|SORBS2_uc011cku.2_Missense_Mutation_p.H144R|SORBS2_uc011ckv.2_Missense_Mutation_p.H129R|SORBS2_uc003iyd.3_Missense_Mutation_p.H404R|SORBS2_uc003iye.3_Missense_Mutation_p.H225R|SORBS2_uc003iya.3_Missense_Mutation_p.H225R|SORBS2_uc003iyb.3_Missense_Mutation_p.H225R|SORBS2_uc003iyc.3_Missense_Mutation_p.H210R|SORBS2_uc003iyf.3_Missense_Mutation_p.H288R|SORBS2_uc003iyo.1_Missense_Mutation_p.H129R	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	225						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGGTCTTTCATGCTGAAGAAT	0.438000													29	33					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624210	92624210	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:92624210C>T	uc001pdj.4	+	24	13622	c.13605C>T	c.(13603-13605)agC>agT	p.S4535S	FAT3_uc001pdi.4_Silent_p.S1007S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4567					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTACGAGAGCGTGGGAGAGC	0.527000										TCGA Ovarian(4;0.039)			8	14					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153762334	153762334	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153762334T>C	uc004fly.1	-	6	799	c.686A>G	c.(685-687)aAc>aGc	p.N229S	G6PD_uc004flx.1_Missense_Mutation_p.N259S	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	229					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGCGATGTTGTCCCGGTT	0.587000													39	69					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464418	25464418	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25464418C>T	uc001isj.3	+	0	129	c.69C>T	c.(67-69)ggC>ggT	p.G23G	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	23						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGCTGTTGGCGCCAGCCGCG	0.667000													35	92					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812977	131812977	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:131812977C>T	uc002tsd.3	-	4	572	c.343G>A	c.(343-345)Gtc>Atc	p.V115I		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	115										endometrium(3)|lung(2)	5						TGGTGGATGACGTGAGGAGGT	0.612000													59	106					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984212	77984212	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:77984212C>T	uc002jxj.3	-	2	642	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	176						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGCTGCGAGGCTGGCTGGGCA	0.706000													6	27					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146209222	146209222	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:146209222T>C	uc003qlf.3	-	28	5288	c.4889A>G	c.(4888-4890)cAc>cGc	p.H1630R	SHPRH_uc003qle.3_Missense_Mutation_p.H1634R	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1630	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAAGAATCTGTGTACAATAGT	0.323000													9	34					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458772	78458772	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:78458772T>G	uc002ffk.3	+	6	960	c.611T>G	c.(610-612)cTt>cGt	p.L204R	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.L91R	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	204	Interaction with MAPT (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTCAGGCCTCTTCATGTGCTT	0.463000													31	337					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:153043291G>A	uc003qpc.4	+	1	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	204						nucleus		p.R204H(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532000													57	88					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447381	10447381	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:10447381T>C	uc003gmn.3	-	2	1059	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	ZNF518B_uc021xme.1_Missense_Mutation_p.Q191R	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATACTCACACTGATAAGGAAA	0.403000													71	73					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132236920	132236920	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:132236920C>T	uc002tsu.4	+	2	459	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	89					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCTTCCACCCGGAGCAGCTG	0.527000													68	113					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98238411	98238411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:98238411C>A	uc004avk.4	-	11	1821	c.1633G>T	c.(1633-1635)Gga>Tga	p.G545*	PTCH1_uc010mro.3_Nonsense_Mutation_p.G394*|PTCH1_uc010mrp.3_Nonsense_Mutation_p.G394*|PTCH1_uc010mrq.3_Nonsense_Mutation_p.G394*|PTCH1_uc004avl.4_Nonsense_Mutation_p.G394*|PTCH1_uc004avm.4_Nonsense_Mutation_p.G544*|PTCH1_uc010mrr.3_Nonsense_Mutation_p.G479*|PTCH1_uc010mrs.1_Nonsense_Mutation_p.G213*	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	545	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G545E(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGCTGGCTCCTGTGCGCTTC	0.592000													13	11					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30694992	30694992	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:30694992G>A	uc010csz.3	+	10	1479	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T	ZNF207_uc002hhj.4_Missense_Mutation_p.A375T|ZNF207_uc002hhh.4_Missense_Mutation_p.A359T|ZNF207_uc002hhi.4_Missense_Mutation_p.A344T|ZNF207_uc002hhk.1_Missense_Mutation_p.A375T|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	359						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACAACTAGTGCAACCAGTAA	0.398000													37	62					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43570304	43570304	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:43570304G>A	uc003bdq.3	-	7	1202	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	380	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGCCCTCGGGGCCACCTGCCC	0.657000													67	124					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230223281	230223281	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:230223281G>A	uc002vpv.3	-	12	2336	c.2189C>T	c.(2188-2190)aCa>aTa	p.T730I		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	730					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTTAATCAGTGTGACCAAGGG	0.333000													32	30					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3438974	3438974	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:3438974C>T	uc002fvr.2	-	6	999	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.R210Q|TRPV3_uc010vri.1_Missense_Mutation_p.R181Q|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.R226Q|TRPV3_uc010vrj.1_Missense_Mutation_p.R210Q|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.R210Q|TRPV3_uc002fvu.3_Missense_Mutation_p.R226Q	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	226						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCCCCCTGCCGCCGCTCGAT	0.721000													4	7					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053668	142053668	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:142053668G>T	uc003iio.1	-	0	949	c.295C>A	c.(295-297)Cgc>Agc	p.R99S	RNF150_uc010iok.1_Missense_Mutation_p.R99S|RNF150_uc003iip.1_Missense_Mutation_p.R99S	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	99	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CAGGCCAGGCGGTCGTGGGCC	0.672000													3	5					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220077176	220077176	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220077176C>T	uc002vkc.2	-	13	3680	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ABCB6_uc010fwe.2_Missense_Mutation_p.R588H	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	634	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.R634C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAACAGCAGGCGCAAAATTGT	0.512000													23	37					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72281094	72281094	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72281094C>T	uc011kej.2	-	3	554	c.395G>A	c.(394-396)gGc>gAc	p.G132D	TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_Intron	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	132	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ATTTCCCAGGCCAAATACCGC	0.428000													75	120					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5774180	5774180	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:5774180G>T	uc003zjl.4	+	24	4286	c.4095G>T	c.(4093-4095)gaG>gaT	p.E1365D	KIAA1432_uc003zji.3_Missense_Mutation_p.E1323D	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1402						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGAAAGAGGAGGACACAGCCC	0.547000													32	50					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52336136	52336136	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:52336136C>A	uc003xqu.4	-	14	1896	c.1795_splice	c.e14+1	p.A599_splice		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	599					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GACACCTACCCGTGACTGTAA	0.438000													19	45					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930298	45930298	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:45930298C>A	uc003tnp.3	+	1	794	c.501C>A	c.(499-501)acC>acA	p.T167T		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	167						extracellular space	insulin-like growth factor binding	p.V166A(1)		large_intestine(2)|lung(4)	6						TCCATGTCACCAACATCAAAA	0.527000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	64					0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76072999	76072999	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:76072999T>C	uc010umm.1	+	4	388	c.311T>C	c.(310-312)aTa>aCa	p.I104T	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		AACAGTGAAATACACAAAGCA	0.478000													37	34					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201969	248201969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:248201969C>T	uc001idw.3	+	0	496	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I133V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCCCATCCGTATAAGCAA	0.428000													53	70					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129489	83129489	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:83129489A>G	uc004eei.1	+	3	1794	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K	CYLC1_uc004eeh.1_Silent_p.K590K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	591					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.G591R(1)|p.G591G(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAATGAAAAAGGGGAAAAAG	0.418000													32	25					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100283633	100283633	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100283633G>A	uc003uwg.1	-	8	2027	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	340										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTTCGGAAGGTTCCTCCTCC	0.682000													33	42					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014143	127014143	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:127014143A>G	uc010lla.2	-	4	1959	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A	ZNF800_uc003vlw.1_Missense_Mutation_p.V319A|ZNF800_uc003vlx.1_Missense_Mutation_p.V416A|ZNF800_uc003vly.1_Missense_Mutation_p.V416A	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGAAGATTCTACAGAATCTGC	0.358000													28	41					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148009407	148009407	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:148009407G>A	uc001eqq.3	-	15	1932	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Missense_Mutation_p.P615S|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc010pad.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	634	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTTCTGTAGGGCTGGCATGAG	0.473000													25	425					0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42272160	42272160	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:42272160C>T	uc002iga.3	-	9	804	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	ATXN7L3_uc010wiv.2_Missense_Mutation_p.R20Q|ATXN7L3_uc002ifz.3_Missense_Mutation_p.R245Q	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	238	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAAATAAATCCGTACGGTTCG	0.577000													12	21					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26481666	26481666	+	Silent	SNP	C	C	T	rs113199330	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26481666C>T	uc003xfb.2	+	3	752	c.321C>T	c.(319-321)caC>caT	p.H107H	DPYSL2_uc003xfa.3_Silent_p.H212H|DPYSL2_uc011lag.2_Silent_p.H107H|DPYSL2_uc011lah.2_Silent_p.H71H	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	107					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAGTTGACCACGTTGTTCCTG	0.532000													16	104					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106184836	106184836	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106184836C>T	uc004emu.4	-	16	2962	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Silent_p.T883T|MORC4_uc004emw.4_Silent_p.T631T	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	896							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GACGTGGATACGTAGCCGCGT	0.498000													19	38					0	0	1	0	0
LINC00174	285908	broad.mit.edu	37	7	65842378	65842378	+	RNA	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:65842378G>T	uc003tux.3	-	4		c.3077C>A								Homo sapiens long intergenic non-protein coding RNA 174 (LINC00174), non-coding RNA.																		AGAGGCCGACGGGAACCAGTT	0.716000													4	11					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52905907	52905907	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:52905907A>T	uc010ugf.2	-	1	319	c.185T>A	c.(184-186)gTa>gAa	p.V62E	FAM214A_uc002acg.4_Missense_Mutation_p.V55E|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Intron	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	55								p.V55E(1)									TTTGGTAGTTACTGGGTAACA	0.408000													13	20					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176963600	176963600	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176963600G>A	uc003mhu.3	-	3	924	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	FAM193B_uc003mht.3_5'Flank|FAM193B_uc003mhv.3_Intron|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	226										kidney(1)|large_intestine(3)	4						GGGGTGGTGGGCAGCAGGTGT	0.667000													9	12					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072512	125072512	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:125072512T>C	uc003yqw.3	+	22	3172	c.2966T>C	c.(2965-2967)cTg>cCg	p.L989P	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	989						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGGCCGGTGCTGAGCAAATAC	0.587000													118	54					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41654017	41654017	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41654017G>A	uc003azs.3	-	5	2179	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	RANGAP1_uc003azt.3_Silent_p.L237L|RANGAP1_uc003azu.3_Silent_p.L237L|RANGAP1_uc011aoz.2_Silent_p.L182L	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	237					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCGCAGCAGGGGGTTGACA	0.627000													35	36					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221723	59221723	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:59221723A>G	uc010dps.1	+	10	2353	c.2201A>G	c.(2200-2202)gAc>gGc	p.D734G	CDH20_uc002lif.2_Missense_Mutation_p.D728G	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	734					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TACGAGGCCGACATGGACCTG	0.647000													10	12					0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241927	104241927	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:104241927A>G	uc001kvv.3	-	7	864	c.756T>C	c.(754-756)ggT>ggC	p.G252G	ACTR1A_uc010qqn.2_Silent_p.G178G|ACTR1A_uc010qqo.2_Silent_p.G205G	NM_005736	NP_005727	P61163	ACTZ_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA.	252					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ATCGGGAAGGACCAATCTGCA	0.572000													51	150					0	0	1	0	0
PXT1	222659	broad.mit.edu	37	6	36359628	36359628	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:36359628A>G	uc003omd.2	-	4	808	c.324T>C	c.(322-324)gaT>gaC	p.D108D		NM_152990	NP_694535	Q8NFP0	PXT1_HUMAN	Homo sapiens peroxisomal, testis specific 1 (PXT1), mRNA.	25						peroxisome											GATCTAGTGCATCTCTGCCAT	0.323000													37	93					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135960091	135960091	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:135960091G>A	uc004fae.2	-	3	581	c.371C>T	c.(370-372)tCa>tTa	p.S124L	RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.S124L|RBMX_uc011mwg.2_Missense_Mutation_p.S85L|RBMX_uc004faf.2_Intron	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	124						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCCTCCCCGTGAGGGAGGTCC	0.547000													36	52					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474152	43474152	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43474152C>T	uc002iix.3	-	11	1382	c.933G>A	c.(931-933)gcG>gcA	p.A311A	ARHGAP27_uc010dak.3_Silent_p.A284A	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	652	WW 2.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCAGGGCGGGCGCGGCTGCCG	0.716000													9	25					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25976006	25976006	+	Nonstop_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:25976006T>C	uc002gzp.3	+	10	1184	c.1066T>C	c.(1066-1068)Tag>Cag	p.*356Q	LGALS9_uc002gzq.3_Nonstop_Mutation_p.*324Q|LGALS9_uc002gzr.3_Nonstop_Mutation_p.*267Q|LGALS9_uc010waa.2_3'UTR	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TGTGCAGACATAGGCGGCTTC	0.627000													72	121					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9452491	9452491	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:9452491G>A	uc001mho.3	+	15	1964	c.1822G>A	c.(1822-1824)Gct>Act	p.A608T		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	608					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCAGTTACTGCTATGGGAAT	0.363000													25	27					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924624	45924624	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:45924624C>T	uc001nbr.3	+	4	1631	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	436					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGAGGCCCCGCGGCCCCAGCC	0.602000													18	32					0	0	1	0	0
RAB11A	8766	broad.mit.edu	37	15	66170108	66170108	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:66170108G>A	uc002apk.3	+	2	372	c.245G>A	c.(244-246)cGt>cAt	p.R82H	RAB11A_uc010ujk.2_Missense_Mutation_p.R82H	NM_004663	NP_004654	P62491	RB11A_HUMAN	Homo sapiens RAB11A, member RAS oncogene family (RAB11A), transcript variant 1, mRNA.	82					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGATATTATCGTGGAGCTGTA	0.358000													17	48					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166890248	166890248	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:166890248G>A	uc001gdx.2	-	8	1636	c.1580C>T	c.(1579-1581)tCg>tTg	p.S527L		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	527						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCCAGGTACGAGTGGTCGTA	0.776000													3	7					0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139906583	139906583	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139906583C>T	uc003lfs.2	+	26	5165	c.5011C>T	c.(5011-5013)Cca>Tca	p.P1671S	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1671S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P410S|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P309S|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.P106S|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1671						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAAGCTCTCCAAACATAAA	0.388000													15	77					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43276525	43276525	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:43276525G>A	uc010jyn.2	-	0	6	c.6C>T	c.(4-6)agC>agT	p.S2S	CRIP3_uc003ouu.1_Silent_p.S2S	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	2						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GACAGGTCCAGCTCATAGCTC	0.672000													4	114					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138882232	138882232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:138882232C>A	uc004faz.3	-	7	805	c.706G>T	c.(706-708)Gag>Tag	p.E236*	ATP11C_uc004fay.3_5'Flank|ATP11C_uc004fba.3_Nonsense_Mutation_p.E236*	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	236					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCAACAGCCTCAAGACTATTA	0.368000													35	68					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115410306	115410306	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:115410306T>C	uc001lal.3	-	8	840	c.676_splice	c.e8-1	p.V226_splice	NRAP_uc001laj.3_Splice_Site_p.V226_splice|NRAP_uc001lak.3_Splice_Site_p.V226_splice	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	226						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTATCTCACCTGAAATGAAAA	0.458000													19	41					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227922791	227922791	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:227922791T>C	uc001hrb.3	-	0	322	c.322A>G	c.(322-324)Acg>Gcg	p.T108A	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'UTR|SNAP47_uc001hre.3_5'UTR|SNAP47_uc001hrf.2_5'UTR|JMJD4_uc001hrc.3_Missense_Mutation_p.T108A	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	108										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAGCCCTGCGTGAAGGCGCTG	0.721000													4	16					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196733483	196733483	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196733483G>A	uc003fxk.4	-	13	1989	c.1875C>T	c.(1873-1875)caC>caT	p.H625H		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	625	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCATCACGGCGTGGGGTGGTA	0.627000													17	39					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74363524	74363524	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:74363524G>A	uc003phn.4	-	0	214	c.86C>T	c.(85-87)gCc>gTc	p.A29V	SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_5'UTR	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	29					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCGGCTTCGGCCCGTGGGGC	0.726000													13	4					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815488	46815488	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:46815488C>T	uc002peh.3	+	6	872	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	HIF3A_uc002pef.2_Silent_p.L281L|HIF3A_uc002peg.4_Silent_p.L281L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.L225L|HIF3A_uc002pej.2_Silent_p.L212L|HIF3A_uc010xxy.2_Silent_p.L212L|HIF3A_uc002pel.3_Silent_p.L279L|HIF3A_uc010xxz.2_Silent_p.L230L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	281	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CATCCACGCGCTGGACTCCGA	0.612000													58	86					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581004	1581004	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:1581004G>A	uc003wpl.3	+	4	1459	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	DLGAP2_uc003wpm.3_Silent_p.A454A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	533					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.A476A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAGCGAGGCGGAGATCAATG	0.572000													27	23					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740148	37740148	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:37740148C>T	uc004aag.1	+	14	1667	c.1623C>T	c.(1621-1623)gaC>gaT	p.D541D	FRMPD1_uc004aah.1_Silent_p.D541D|FRMPD1_uc011lqm.2_Silent_p.D363D|FRMPD1_uc011lqn.2_Silent_p.D410D	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	541						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTCTCTGACAGGCGCCTGG	0.587000													49	88					0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661100	116661100	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:116661100C>T	uc009yzg.3	-	1	1355	c.923G>A	c.(922-924)cGc>cAc	p.R308H	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.R282H|APOA5_uc009yzf.3_Missense_Mutation_p.R282H			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	282					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AAGTCGCTGGCGCACCTCCTC	0.652000													50	75					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1748922	1748922	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:1748922G>A	uc009zdq.3	+	3	643	c.401G>A	c.(400-402)cGc>cAc	p.R134H	WNT5B_uc001qjj.3_Missense_Mutation_p.R134H|WNT5B_uc001qjk.3_Missense_Mutation_p.R134H|WNT5B_uc001qjl.3_Missense_Mutation_p.R134H	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	134				R -> S (in Ref. 1; AAG38659).	Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CGGGCCTGCCGCGAGGGCGAG	0.731000													4	15					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50255979	50255979	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:50255979A>G	uc002xwg.1	-	14	1571	c.1571T>C	c.(1570-1572)aTg>aCg	p.M524T	ATP9A_uc010gih.1_Missense_Mutation_p.M388T|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	524					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTCAGCTGCATGGAAGACTG	0.552000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	100					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515338	233515338	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:233515338A>G	uc001hvt.4	+	8	2847	c.2586A>G	c.(2584-2586)tcA>tcG	p.S862S	KIAA1804_uc001hvu.4_Silent_p.S308S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	862					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GTAGTGTATCAAGAAACTTGC	0.498000													7	72					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611442	17611442	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:17611442G>A	uc003wxv.3	-	1	2349	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.C625C|MTUS1_uc010lsz.3_Silent_p.C625C	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	625						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACCCGGTCTCGCATGCTGAGT	0.433000													79	219					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42333926	42333926	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:42333926T>C	uc002xlb.1	+	8	1648	c.1433T>C	c.(1432-1434)gTg>gCg	p.V478A	MYBL2_uc010zwj.1_Missense_Mutation_p.V454A	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	478						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCACCCCAGTGTGCAGCCAG	0.557000													28	67					0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413740	22413740	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:22413740C>A	uc001yuf.3	+	0	279	c.39C>A	c.(37-39)tcC>tcA	p.S13S	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		AGGTAATCTCCTACAGAGGCT	0.488000													19	157					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100816662	100816662	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100816662T>C	uc003uxy.2	-	2	691	c.452A>G	c.(451-453)cAc>cGc	p.H151R	NAT16_uc003uxz.2_Missense_Mutation_p.H151R	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	151	N-acetyltransferase.						N-acetyltransferase activity										GACCCCCGGGTGCTGTCTCTT	0.692000													19	27					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086356	110086356	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:110086356G>T	uc021orh.1	+	0	712	c.712G>T	c.(712-714)Gct>Tct	p.A238S	GPR61_uc001dxy.2_Missense_Mutation_p.A238S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	238						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCCGCGTGGCTGCCATGCA	0.617000													98	159					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424190	125424190	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:125424190C>T	uc022bmz.1	+	0	196	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCTAAGCATCCTGTCTTTTGT	0.453000													44	75					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27494154	27494154	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:27494154C>T	uc001itr.1	-	10	1515	c.795G>A	c.(793-795)ttG>ttA	p.L265L	ACBD5_uc010qdm.2_Silent_p.L474L|ACBD5_uc010qdn.2_Silent_p.L367L|ACBD5_uc010qdo.2_Silent_p.L299L|ACBD5_uc010qdp.2_Silent_p.L476L|ACBD5_uc001ito.3_Silent_p.L441L|ACBD5_uc001itp.3_Silent_p.L367L|ACBD5_uc001itq.3_Silent_p.L367L			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	485					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GAGCAGTCTGCAATGTTGATG	0.313000													34	63					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502395	20502395	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502395C>A	uc010tkz.2	-	0	523	c.523G>T	c.(523-525)Gac>Tac	p.D175Y		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAAAGCTGTCTATAACATTG	0.473000													38	58					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124382144	124382144	+	Missense_Mutation	SNP	T	T	C	rs150184958		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382144T>C	uc003yqh.4	-	6	956	c.848A>G	c.(847-849)gAa>gGa	p.E283G	ATAD2_uc011lii.2_Missense_Mutation_p.E74G|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.E283G	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	283	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tccatcttcttcatcttcatc	0.368000													26	17					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884026	24884026	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24884026C>T	uc001wpf.4	+	8	3389	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1024					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTTCGCTGGCGTCAGTGTTC	0.627000													28	30					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219883883	219883883	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219883883G>A	uc002vjl.1	-	20	3576	c.3492C>T	c.(3490-3492)ccC>ccT	p.P1164P	CCDC108_uc002vjm.3_Silent_p.P49P	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1164						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGAGGACGGGGGGGATCT	0.612000													39	61					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108203563	108203563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:108203563C>T	uc003kop.1	+	5	961	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	FER_uc011cve.1_Nonsense_Mutation_p.Q133*|FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Nonsense_Mutation_p.Q18*	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	193	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAAAGGGGCACAGCTCCATCA	0.403000													17	41					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66241352	66241352	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66241352T>C	uc001oic.4	+	6	960	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	PELI3_uc021qlx.1_Missense_Mutation_p.Y242H|PELI3_uc001oib.2_Missense_Mutation_p.Y266H|PELI3_uc001oid.4_Missense_Mutation_p.Y242H|PELI3_uc021qly.1_Missense_Mutation_p.Y159H	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	266						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGGGAATGTGTACACATTGCG	0.652000													9	110					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132630693	132630693	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:132630693C>A	uc004bys.2	+	10	1311	c.1100C>A	c.(1099-1101)cCg>cAg	p.P367Q	USP20_uc004byr.2_Missense_Mutation_p.P367Q|USP20_uc004byt.1_Missense_Mutation_p.P367Q	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	367					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCCCAGCCCCCGTCACCACGG	0.677000													33	62					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54163550	54163550	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:54163550G>A	uc003xrh.1	-	0	423	c.48C>T	c.(46-48)tgC>tgT	p.C16C	OPRK1_uc022aup.1_5'UTR|OPRK1_uc003xri.1_Silent_p.C16C|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	16					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CGCTCGGGGCGCAGGTAGGGC	0.741000													17	33					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128843292	128843292	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128843292G>T	uc003vor.3	+	1	679	c.399G>T	c.(397-399)aaG>aaT	p.K133N		NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	133	FZ.				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACATGCCCAAGTGTGAGAATG	0.672000			Mis		skin basal cell								3	3					0	0	1	0	0
PFN2	5217	broad.mit.edu	37	3	149684300	149684300	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:149684300T>C	uc003ext.1	-	2	497	c.399A>G	c.(397-399)aaA>aaG	p.K133K	PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron	NM_053024	NP_444252	P35080	PROF2_HUMAN	Homo sapiens profilin 2 (PFN2), transcript variant 1, mRNA.	133					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTCAAGTATTTTGCCATTG	0.393000													269	327					0	0	1	0	0
PROCA1	147011	broad.mit.edu	37	17	27031790	27031790	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:27031790C>T	uc002hcb.3	-	2	372	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	PROCA1_uc010crv.2_5'UTR|PROCA1_uc002hca.1_Missense_Mutation_p.A55T	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	Homo sapiens protein interacting with cyclin A1 (PROCA1), mRNA.	83					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592000													31	44					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4798393	4798393	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4798393C>T	uc010vsl.2	+	24	3185	c.2941C>T	c.(2941-2943)Cgg>Tgg	p.R981W	MINK1_uc010vsk.2_Missense_Mutation_p.R952W|MINK1_uc010vsm.2_Missense_Mutation_p.R961W|MINK1_uc010vsn.2_Missense_Mutation_p.R944W|MINK1_uc010vso.2_Missense_Mutation_p.R889W|MINK1_uc010vsp.2_Missense_Mutation_p.R442W	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	981	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGAGGGCACTCGGCTCGACCA	0.597000													21	36					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164712126	164712126	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:164712126T>C	uc003fei.3	-	40	4823	c.4760A>G	c.(4759-4761)tAc>tGc	p.Y1587C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1587	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1586S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAATAAGGTGTATCTAATATT	0.348000										HNSCC(35;0.089)			30	27					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134941910	134941910	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:134941910A>G	uc001llw.3	+	15	2735	c.2735A>G	c.(2734-2736)tAc>tGc	p.Y912C	GPR123_uc001llx.4_Missense_Mutation_p.Y193C			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACCTGTGTGTACTTCCTGGGC	0.701000													20	22					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783143	115783143	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:115783143C>T	uc003krx.4	-	19	3019	c.2310G>A	c.(2308-2310)acG>acA	p.T770T	SEMA6A_uc010jck.3_Silent_p.T753T|SEMA6A_uc011cwe.2_Silent_p.T132T|SEMA6A_uc003krv.4_Silent_p.T180T|SEMA6A_uc003krw.4_Silent_p.T230T|SEMA6A_uc010jcj.3_Silent_p.T297T	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	753					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGGGAGGGCCGTCAGGTCCA	0.632000													172	144					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128410948	128410948	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:128410948T>C	uc003qbk.3	-	7	1719	c.1352A>G	c.(1351-1353)cAg>cGg	p.Q451R	PTPRK_uc010kfc.3_Missense_Mutation_p.Q451R|PTPRK_uc003qbj.3_Missense_Mutation_p.Q451R|PTPRK_uc011ebu.2_Missense_Mutation_p.Q451R|PTPRK_uc003qbl.1_Missense_Mutation_p.Q321R|PTPRK_uc011ebv.1_Missense_Mutation_p.Q451R	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	451	Fibronectin type-III 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q451*(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACAACATGCTGAGGGGCTTT	0.468000													91	48					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30521243G>A	uc003nqh.3	-	5	2083	c.692C>T	c.(691-693)cCg>cTg	p.P231L	GNL1_uc011dmi.2_Missense_Mutation_p.P93L|GNL1_uc011dmj.2_Missense_Mutation_p.P229L|GNL1_uc011dmk.2_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	231					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGAGCTGGCGGGGCCAGATC	0.542000													104	73					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887559	23887559	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:23887559C>T	uc001wjx.3	-	29	4135	c.4029G>A	c.(4027-4029)ctG>ctA	p.L1343L	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1343					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTGCTCCCGCAGCAGGTCGC	0.657000													40	60					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822572	72822572	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:72822572C>T	uc002fck.3	-	9	10276	c.9603G>A	c.(9601-9603)caG>caA	p.Q3201Q	ZFHX3_uc002fcl.3_Silent_p.Q2287Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3201	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgctgctgctgctgctgct	0.652000													89	117					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26116151	26116151	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:26116151A>G	uc001uqk.3	+	8	888	c.746A>G	c.(745-747)gAc>gGc	p.D249G	ATP8A2_uc010tdi.2_Missense_Mutation_p.D209G|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.D209G	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	209					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CACCTCTATGACTTCACTGGA	0.393000													28	33					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47260141	47260141	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47260141C>T	uc002pfn.2	+	3	1731	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	FKRP_uc002pfp.2_Silent_p.I478I|FKRP_uc021uwj.1_Silent_p.I478I	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	478						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CCGGGGTCATCGAGAACCCCC	0.637000													9	11					0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105643364	105643364	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105643364G>A	uc010tyn.2	-	3	240	c.126_splice	c.e3-1	p.S42_splice	NUDT14_uc001yqi.3_Splice_Site	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	42	Nudix hydrolase.					cytoplasm	UDP-sugar diphosphatase activity|metal ion binding|protein binding			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAACGGTCACGCTGTGTACGG	0.632000										HNSCC(42;0.11)			16	18					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68215288	68215288	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:68215288T>C	uc001xka.2	-	41	7624	c.7485A>G	c.(7483-7485)tcA>tcG	p.S2495S	ZFYVE26_uc010tsz.1_Non-coding_Transcript	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2495					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGTGGCCCGTGAGTGTTCTT	0.562000													36	54					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105965735	105965735	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105965735G>T	uc001kxw.3	-	6	1065	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	WDR96_uc001kxx.4_Missense_Mutation_p.L318M|WDR96_uc001kxy.1_Missense_Mutation_p.L318M|WDR96_uc001kxz.3_Missense_Mutation_p.L318M	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	317										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGAAGCCAGCACGCCCTCC	0.328000													27	10					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37899524	37899524	+	Silent	SNP	C	C	T	rs145171655		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:37899524C>T	uc002hsr.3	+	4	830	c.555C>T	c.(553-555)ttC>ttT	p.F185F	GRB7_uc002hss.3_Silent_p.F185F|GRB7_uc021twu.1_Silent_p.F208F|GRB7_uc010cwc.3_Silent_p.F185F|GRB7_uc002hst.3_Silent_p.F185F	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	185	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAAAACTTCGCCAAGTACG	0.617000													50	51					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482626	39482626	+	RNA	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:39482626G>A	uc011byn.2	+	0		c.752G>A								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		CATTTTAATCGTGATGGATTC	0.468000													26	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575969	179575969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179575969C>T	uc021vsy.1	-	93	24487	c.24262G>A	c.(24262-24264)Gtg>Atg	p.V8088M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4749M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9015	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAGACACGGAGATAGGT	0.393000													63	124					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136990430	136990430	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:136990430G>C	uc003qhc.3	-	7	1718	c.1357C>G	c.(1357-1359)Cgg>Ggg	p.R453G	MAP3K5_uc011edk.1_Missense_Mutation_p.R298G|MAP3K5_uc010kgw.1_Missense_Mutation_p.R453G	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	453					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCAACTTTCCGGAGCTCAAAG	0.393000													41	105					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775123	234775123	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234775123C>T	uc010znf.2	-	1	957	c.719G>A	c.(718-720)aGc>aAc	p.S240N						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		CCCTTCCTGGCTAGGAGTCAG	0.502000													25	57					0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13879657	13879657	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:13879657C>T	uc002mxe.3	+	4	810	c.744C>T	c.(742-744)gaC>gaT	p.D248D	MRI1_uc002mxf.3_Silent_p.D201D	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	248					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGGGAGCTGACCGCGTGGTTG	0.647000													10	29					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8579029	8579029	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:8579029A>G	uc003bqq.3	+	2	404	c.290A>G	c.(289-291)aAc>aGc	p.N97S	LMCD1_uc011atd.2_Missense_Mutation_p.N24S|LMCD1_uc011ate.2_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.N24S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	97					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TACAAGAGGAACCGGATGATC	0.537000													110	128					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3392257	3392257	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:3392257G>A	uc001qlp.3	+	8	878	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TSPAN9_uc021qtd.1_Missense_Mutation_p.R232Q	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	232						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CACATCCACCGGACTGGTAAG	0.637000													4	106					0	0	1	0	0
GLT25D1	79709	broad.mit.edu	37	19	17691986	17691986	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17691986G>A	uc002nhc.1	+	12	1614	c.1602_splice	c.e12-1	p.V534_splice		NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	534					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						CTCCCCCCAGGTCCGAGTACA	0.592000													172	270					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011985	138011985	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138011985C>T	uc010nar.3	+	5	1438	c.1419C>T	c.(1417-1419)aaC>aaT	p.N473N	OLFM1_uc004cfl.4_Silent_p.N455N|OLFM1_uc004cfn.4_Silent_p.N224N	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	473	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCCTCTACAACGTGACCCTCT	0.572000													23	43					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127335929	127335929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127335929C>T	uc003ejp.3	+	9	1798	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	MCM2_uc011bkm.2_Nonsense_Mutation_p.R451*|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Nonsense_Mutation_p.R534*	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	581	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTGGCTGACCGAGGAGTGTG	0.647000													82	98					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266305	55266305	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:55266305C>T	uc009vzt.1	-	0	637	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	TTC22_uc001cxz.4_Missense_Mutation_p.A178T	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	178							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCGTAGAGCGCGATGCCTGCC	0.701000													9	7					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160364	2160364	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2160364G>A	uc002cos.1	-	14	5013	c.4804C>T	c.(4804-4806)Cgc>Tgc	p.R1602C	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1602C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1602	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCACGGAGCGGAAGGTGTAA	0.612000													43	54					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44057626	44057626	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:44057626C>A	uc002owt.2	-	5	648	c.528G>T	c.(526-528)aaG>aaT	p.K176N	XRCC1_uc010xwp.1_Missense_Mutation_p.K145N	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	176					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CATCCTCCTCCTTCACACGGA	0.597000								Other BER factors					42	55					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816607	90816607	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:90816607C>G	uc003hst.3	+	0	556	c.485C>G	c.(484-486)aCt>aGt	p.T162S	MMRN1_uc010iku.3_Missense_Mutation_p.T128S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	162					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.G161D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTtggaggcactggaggcatt	0.507000													35	39					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933378	43933378	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:43933378C>T	uc002xnn.2	-	2	320	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	MATN4_uc002xnp.2_Missense_Mutation_p.V45M|MATN4_uc002xno.2_Missense_Mutation_p.V45M|MATN4_uc010zwr.1_5'UTR|MATN4_uc002xnr.1_Missense_Mutation_p.V45M|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	45	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AAAGGGCGCACGCTGCGGGAG	0.632000													19	41					0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102468812	102468812	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:102468812G>A	uc001tjc.3	-	7	899	c.834C>T	c.(832-834)agC>agT	p.S278S		NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	278					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TTTGAAACTGGCTTGCCATTT	0.343000													22	24					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395909	38395909	+	Missense_Mutation	SNP	C	C	T	rs144062423	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:38395909C>T	uc022bgy.1	+	0	164	c.164C>T	c.(163-165)cCg>cTg	p.P55L	ALDH1B1_uc004aay.3_Missense_Mutation_p.P55L	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	55					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAGACCTTCCCGACGGTCAAC	0.597000													37	63					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200125	52200125	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52200125A>G	uc001ryw.3	+	26	5033	c.4855A>G	c.(4855-4857)Atc>Gtc	p.I1619V	SCN8A_uc010snl.2_Missense_Mutation_p.I1578V	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1619					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTCCGAGTCATCCGATTGGC	0.458000													88	116					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58767096	58767096	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:58767096T>C	uc002iyv.4	+	3	297	c.188T>C	c.(187-189)gTc>gCc	p.V63A	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Missense_Mutation_p.V63A|BCAS3_uc002iyw.4_Missense_Mutation_p.V59A	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	63						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATAGTCTGGGTCAGATTTGAA	0.328000													19	30					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694816	109694816	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:109694816T>C	uc004eor.2	+	2	1217	c.971T>C	c.(970-972)cTa>cCa	p.L324P	RGAG1_uc011msr.1_Missense_Mutation_p.L324P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	324										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCACACCGCTACTGTCAGTC	0.502000													36	364					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74547475	74547475	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74547475C>G	uc001ovl.4	+	5	1840	c.1827C>G	c.(1825-1827)agC>agG	p.S609R	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	609							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TAGTTGAGAGCCTAAGTGAAG	0.423000													35	65					0	0	1	0	0
C14orf133	63894	broad.mit.edu	37	14	77920439	77920439	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:77920439G>A	uc001xtt.2	-	2	424	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	C14orf133_uc001xtu.2_Missense_Mutation_p.R3W|C14orf133_uc001xtv.2_Missense_Mutation_p.R3W|C14orf133_uc021rwu.1_Missense_Mutation_p.R3W|C14orf133_uc010tvj.2_Missense_Mutation_p.R3W	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	3					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCTTTGTCCGATTCATCTAC	0.453000													29	28					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845739	49845739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49845739G>A	uc002pnh.3	-	11	1304	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	AK097351_uc002pnb.1_5'Flank|TEAD2_uc002png.3_Nonsense_Mutation_p.R399*|TEAD2_uc002pni.3_Nonsense_Mutation_p.R399*|TEAD2_uc002pnj.3_Nonsense_Mutation_p.R396*|TEAD2_uc010yao.2_Nonsense_Mutation_p.R268*|TEAD2_uc010emw.3_Nonsense_Mutation_p.R399*	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	396	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATCATGTATCGCTCAGGCAGC	0.602000													41	54					0	0	1	0	0
C2orf29	55571	broad.mit.edu	37	2	101883155	101883155	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:101883155A>G	uc002taw.4	+	4	1134	c.1052A>G	c.(1051-1053)gAa>gGa	p.E351G		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	Homo sapiens chromosome 2 open reading frame 29 (C2orf29), mRNA.	351					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|skin(1)	17						GGTGAGTTGGAAAAAGACCCC	0.398000													65	80					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51069693	51069693	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:51069693T>C	uc001jih.3	-	12	2287	c.2146A>G	c.(2146-2148)Aca>Gca	p.T716A	PARG_uc009xoj.3_Missense_Mutation_p.T267A|PARG_uc001jif.3_Missense_Mutation_p.T716A|PARG_uc001jig.3_Missense_Mutation_p.T302A|PARG_uc010qgv.2_5'UTR|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.T607A|PARG_uc010qgx.2_Missense_Mutation_p.T634A	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	716					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.T716I(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGCAATCGTGTCAAGGGTTTT	0.358000													8	8					0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465104	50465104	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:50465104T>G	uc001vdk.2	+	0	560	c.378T>G	c.(376-378)agT>agG	p.S126R						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AAGCACAAAGTTTGGAGGCAA	0.383000													84	96					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62201259	62201259	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62201259G>A	uc002agz.3	-	64	9001	c.8910C>T	c.(8908-8910)taC>taT	p.Y2970Y	VPS13C_uc002aha.3_Silent_p.Y2927Y|VPS13C_uc002ahb.2_Silent_p.Y2970Y|VPS13C_uc002ahc.2_Silent_p.Y2927Y|VPS13C_uc002ahd.1_Silent_p.Y347Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2970					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCCCTCATGGTAATCAGAAA	0.378000													24	30					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723549	49723549	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:49723549G>A	uc003cxg.3	-	8	1165	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	MST1_uc011bcs.1_Silent_p.C403C|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	351					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGCCGCGCGCATGCCGGGC	0.672000													17	15					0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40861959	40861959	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:40861959G>T	uc001zmd.1	+	0	423	c.423G>T	c.(421-423)aaG>aaT	p.K141N	RPUSD2_uc021sjh.1_Splice_Site_p.K141_splice	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	141					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCCTGCGTAAGGTGCGGCCCT	0.607000													3	19					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30411336	30411336	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:30411336G>A	uc002wwq.2	+	4	931	c.829G>A	c.(829-831)Ggg>Agg	p.G277R		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	277					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGAGGACCGGGAATGTCAG	0.632000											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	311					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578299	30578299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:30578299G>T	uc022bui.1	-	0	174	c.174C>A	c.(172-174)tgC>tgA	p.C58*	CXorf21_uc004dcg.2_Nonsense_Mutation_p.C58*	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	58										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CAGATGATTTGCAGCTCACGT	0.468000													101	134					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192053197	192053197	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:192053197C>T	uc003fsx.3	-	2	1193	c.367G>A	c.(367-369)Gct>Act	p.A123T	FGF12_uc003fsy.3_Missense_Mutation_p.A61T	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	123					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TAGAGGCTAGCCTTCACTCCT	0.478000													15	36					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76262890	76262890	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:76262890G>A	uc001dhd.2	+	0	335	c.220G>A	c.(220-222)Gcg>Acg	p.A74T		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	74					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCTGCCCCGCGCCAAACTC	0.672000								Mismatch excision repair (MMR)					7	7					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44139886	44139886	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:44139886A>G	uc001rns.4	-	3	1306	c.1226T>C	c.(1225-1227)cTg>cCg	p.L409P	PUS7L_uc001rnq.4_Missense_Mutation_p.L409P|PUS7L_uc001rnr.4_Missense_Mutation_p.L409P|PUS7L_uc009zkb.3_Missense_Mutation_p.L96P	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	409					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTCTCCCTCAGGTTTGCAGA	0.338000													6	13					0	0	1	0	0
BC128043	0	broad.mit.edu	37	20	25268961	25268961	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:25268961C>T	uc010gdm.1	-	0	443	c.249G>A	c.(247-249)agG>agA	p.R83R	PYGB_uc002wup.3_Intron					Homo sapiens cDNA clone IMAGE:40077439.																		GCGGAGCGTGCCTGTCCTGCC	0.662000													13	49					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91964840	91964840	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91964840A>G	uc004aqj.1	+	12	1968	c.1888A>G	c.(1888-1890)Agg>Ggg	p.R630G	SECISBP2_uc010mqo.1_Missense_Mutation_p.R335G|SECISBP2_uc004aqk.1_Missense_Mutation_p.R557G|SECISBP2_uc011ltk.1_Missense_Mutation_p.R629G|SECISBP2_uc011ltl.1_Missense_Mutation_p.R562G	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	630					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCGCAGATTCAGGGAGTGAGT	0.567000													30	38					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202570	53202570	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53202570C>T	uc001saz.3	-	4	1121	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	300						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTCCAGGTTGCGGTTGTTGTC	0.592000													31	47					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24734837	24734837	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24734837C>T	uc001wof.3	-	15	2110	c.1688G>A	c.(1687-1689)aGc>aAc	p.S563N	TGM1_uc001wod.3_5'Flank|TGM1_uc010tog.2_5'Flank|RABGGTA_uc001wog.3_Missense_Mutation_p.S563N	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	563					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GAGGACGCTGCTAACTGAAGG	0.582000													26	19					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29822253	29822253	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29822253G>A	uc001iut.1	-	7	1796	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.A348V	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	348					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTATCAAAGGCTGAGTGCTC	0.572000													50	41					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56863330	56863330	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:56863330T>C	uc003xsk.4	+	5	756	c.474T>C	c.(472-474)agT>agC	p.S158S	LYN_uc003xsl.4_Silent_p.S137S	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	158	SH2.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTAGAGAAAGTGAAACATTAA	0.373000													25	122					0	0	1	0	0
PLCXD1	55344	broad.mit.edu	37	X	215973	215973	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:215973G>A	uc004cpc.3	+	6	1255	c.943G>A	c.(943-945)Gcg>Acg	p.A315T	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	315					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGACGTCATCGCGCTCAATCA	0.617000													26	35					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29812587	29812587	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29812587C>A	uc001iut.1	-	14	3709	c.2956G>T	c.(2956-2958)Gac>Tac	p.D986Y	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.D560Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	986					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTATGGCTGTCTCCTTCCCTG	0.532000													37	58					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47892343	47892343	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:47892343G>A	uc002xui.3	-	1	281	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	ZNFX1-AS1_uc002xul.4_5'Flank|ZNFX1-AS1_uc002xuj.3_5'Flank|ZNFX1-AS1_uc002xum.4_5'Flank|ZNFX1-AS1_uc002xun.4_5'Flank|ZNFX1-AS1_uc002xuo.3_5'Flank	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	12							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATTCCTGGGCCTGGCATCC	0.423000													24	63					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89617001	89617001	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89617001C>T	uc002fnj.3	+	12	1784	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_5'UTR	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	588					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGGAGCACACGGAGGCCGTG	0.612000													46	45					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065702	32065702	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32065702C>T	uc003nzl.2	-	1	476	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TNXB_uc010jts.1_Missense_Mutation_p.E91K|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	92					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGGGGCTCGGTGCCTGGG	0.607000													28	17					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518408	105518408	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105518408C>T	uc001yqd.3	-	3	965	c.66G>A	c.(64-66)ccG>ccA	p.P22P	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Silent_p.P13P	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	22					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGAGGCCCACGGGGCAGTGG	0.622000													65	70					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473179	43473179	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43473179C>A	uc002iix.3	-	15	1849	c.1400G>T	c.(1399-1401)cGt>cTt	p.R467L	ARHGAP27_uc010dak.3_Missense_Mutation_p.R440L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	808					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCAAGTCACGCACACAGCG	0.692000													10	13					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073201	134073201	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:134073201G>A	uc003iha.3	+	0	2732	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.G636R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	636	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGGCGCACCGGGGAGCTGCG	0.682000													43	67					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189255	29189255	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:29189255C>T	uc001brf.1	+	3	820	c.578_splice	c.e3-1	p.D193_splice		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	193					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GCGGCCCAGACGGGGCAGTGG	0.637000													20	23					0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80356186	80356186	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80356186C>T	uc002ket.2	-	7	861	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.G237S	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	237	Fe2OG dioxygenase.					integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						TCGAAGGAGCCGTAGGTCACC	0.572000													15	31					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52498467	52498467	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:52498467G>A	uc001ctj.1	-	0	1006	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	323							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ATAAACTGGCGACGAAGGCGA	0.537000													63	61					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21484616	21484616	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:21484616C>T	uc002kuq.3	+	50	6659	c.6573C>T	c.(6571-6573)gaC>gaT	p.D2191D	LAMA3_uc002kur.3_Silent_p.D2135D|LAMA3_uc002kus.4_Silent_p.D582D|LAMA3_uc002kut.4_Silent_p.D526D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2191	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCGAGGACGCAGCCAACA	0.582000													14	17					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40574467	40574467	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:40574467G>T	uc002yxk.2	-	37	4664	c.4369C>A	c.(4369-4371)Ctc>Atc	p.L1457I	BRWD1_uc010goc.1_Missense_Mutation_p.L100I|BRWD1_uc021wjf.1_Missense_Mutation_p.L1457I|BRWD1_uc010god.1_Missense_Mutation_p.L375I	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCGGCTTGAGGTTTCTGGCC	0.358000													12	19					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152384693	152384693	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152384693T>C	uc001ezx.2	-	1	91	c.17A>G	c.(16-18)cAa>cGa	p.Q6R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	6					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTAATGTTTTGCAGTAACTG	0.493000													67	87					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:70993145A>G	uc004agr.3	+	1	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.I98V(6)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478000													5	70					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445609	87445609	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445609A>C	uc002fjz.1	-	11	2334	c.2307T>G	c.(2305-2307)caT>caG	p.H769Q	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.H545Q	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	769	His-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGGCTGCtgatggtggtggt	0.667000													25	30					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47811722	47811722	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:47811722C>A	uc002leq.4	-	6	1373	c.640_splice	c.e6-1	p.E214_splice	CXXC1_uc002lep.4_Splice_Site_p.E71_splice|CXXC1_uc002ler.4_Splice_Site_p.E214_splice|CXXC1_uc010doy.3_Splice_Site_p.E214_splice	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	214					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGTACGATTCCTGTGCCGGCA	0.672000													25	42					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074161	34074161	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34074161G>T	uc002hjv.2	-	4	987	c.959C>A	c.(958-960)cCt>cAt	p.P320H		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	320					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGTCCACAGGGGGTGGTGG	0.652000													70	98					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108812302	108812302	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:108812302T>C	uc003dxl.3	-	7	757	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	MORC1_uc011bhn.2_Missense_Mutation_p.M224V	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	224					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCTCCAGCCATCAGTATATCT	0.423000													22	31					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661891	227661891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:227661891G>A	uc021vxn.1	-	0	1564	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*	IRS1_uc002voh.4_Nonsense_Mutation_p.R522*	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	522					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTTCTCTTTCGGAACCGATTA	0.577000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	59					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676360	52676360	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52676360C>T	uc001vge.3	-	9	818	c.678G>A	c.(676-678)ccG>ccA	p.P226P		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	226	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P225S(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAGAAAACCCCGGAGATATTG	0.423000													112	151					0	0	1	0	0
C16orf73	254528	broad.mit.edu	37	16	1891830	1891830	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:1891830C>T	uc010uvq.1	-	10	1220	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	C16orf73_uc002cne.2_Missense_Mutation_p.R342Q|C16orf73_uc010uvr.2_Missense_Mutation_p.R135Q	NM_001163560	NP_001157032	Q8N635	CP073_HUMAN	Homo sapiens chromosome 16 open reading frame 73 (C16orf73), transcript variant 1, mRNA.	342					meiosis	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CCATCTATTTCGAACTACTTT	0.313000													13	14					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252292	145252292	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:145252292C>T	uc003lns.1	-	0	240	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	80										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCTGAGCAGTCAGCTTAGGGG	0.517000													42	66					0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4848176	4848176	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:4848176C>T	uc002cxv.3	-	7	643	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ROGDI_uc002cxu.3_Missense_Mutation_p.A91T|ROGDI_uc002cxw.3_Missense_Mutation_p.A91T	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	Homo sapiens rogdi homolog (Drosophila) (ROGDI), mRNA.	181						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						AGGGCAGGGGCGAACATCCGC	0.652000													7	25					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240601375	240601375	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:240601375C>T	uc010pye.2	+	16	5162	c.4937C>T	c.(4936-4938)aCg>aTg	p.T1646M	FMN2_uc010pyd.2_Missense_Mutation_p.T1642M|FMN2_uc010pyg.2_Missense_Mutation_p.T238M	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1642	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGGAGACCACGGCATATTTC	0.378000													38	77					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94408154	94408154	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:94408154C>T	uc001kic.3	+	18	3041	c.2733C>T	c.(2731-2733)tgC>tgT	p.C911C		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	911					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTTAATTGCTTTCTGGAAC	0.299000													30	94					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69009342	69009342	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:69009342G>A	uc003xxv.1	+	21	2486	c.2459G>A	c.(2458-2460)gGt>gAt	p.G820D	PREX2_uc003xxu.1_Missense_Mutation_p.G820D|PREX2_uc011lez.1_Missense_Mutation_p.G755D	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	820					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.G820A(3)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGGAATATGGTGTCGTGTAT	0.453000													121	44					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928979	4928979	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:4928979A>G	uc010qyq.2	+	0	380	c.380A>G	c.(379-381)cAc>cGc	p.H127R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGCCATTCACAATCCCTTA	0.403000													34	44					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121190985	121190985	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121190985T>C	uc003eee.4	-	21	6699	c.6570A>G	c.(6568-6570)ttA>ttG	p.L2190L	POLQ_uc003eed.3_Silent_p.L1362L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2190					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTAAAGGATGTAATGCCTTTA	0.348000								DNA polymerases (catalytic subunits)					15	27					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101163312	101163312	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:101163312G>A	uc001kpr.3	-	6	1081	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	291					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAATCCGCACGATCTTCTCCA	0.537000													93	67					0	0	1	0	0
BC034827	0	broad.mit.edu	37	8	26236877	26236877	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26236877C>T	uc003xew.3	-	1		c.3072G>A								Homo sapiens cDNA clone IMAGE:4826633.																		TAGCATTCTTCTTGGAATGGA	0.343000													5	17					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508511	106508511	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106508511C>T	uc003vdv.4	+	1	590	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	PIK3CG_uc003vdu.3_Missense_Mutation_p.H169Y|PIK3CG_uc003vdw.3_Missense_Mutation_p.H169Y	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	169					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V168L(1)|p.H169H(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCAACGTGCACGACGATGA	0.677000													30	18					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045754	26045754	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:26045754C>A	uc003nfv.3	+	0	116	c.116C>A	c.(115-117)cCt>cAt	p.P39H	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	39					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GTGAAGAAACCTCATCGCTAC	0.637000													80	50					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138392884	138392884	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138392884G>A	uc004cfv.4	+	1	158	c.84G>A	c.(82-84)aaG>aaA	p.K28K	C9orf116_uc004cfs.1_5'Flank|C9orf116_uc004cft.1_5'Flank|C9orf116_uc004cfu.1_5'Flank	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	28					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TTCTCGGGAAGGCGACCCCCC	0.711000													17	25					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101768587	101768587	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101768587G>A	uc001tia.1	+	55	7288	c.7132_splice	c.e55-1	p.R2378_splice		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2378					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTTTGGTAGCGCTTAAATAGA	0.398000													44	99					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92604647	92604647	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:92604647C>T	uc001yah.2	+	6	885	c.617C>T	c.(616-618)aCa>aTa	p.T206I		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	206					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTCAATGCTACATATGTACAG	0.333000													4	63					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60927343	60927343	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:60927343G>A	uc002ycq.3	-	3	709	c.642C>T	c.(640-642)atC>atT	p.I214I	LAMA5_uc021wfw.1_Silent_p.I214I	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	214	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTGGTGCAGATGGCCGCGT	0.697000													19	54					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10825100	10825100	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:10825100A>G	uc001mjb.3	-	8	1274	c.122T>C	c.(121-123)aTg>aCg	p.M41T	EIF4G2_uc009ygf.3_Missense_Mutation_p.M247T|EIF4G2_uc001mjc.3_Missense_Mutation_p.M41T|EIF4G2_uc001mjd.3_Missense_Mutation_p.M247T|EIF4G2_uc001mjf.1_Missense_Mutation_p.M41T|SNORD97_uc009yge.3_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	247					RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCCTCTCCCATATCTTTGAG	0.423000													29	51					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153196294	153196294	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153196294A>T	uc004fjm.1	-	6	504	c.393T>A	c.(391-393)agT>agA	p.S131R	NAA10_uc004fjn.1_Missense_Mutation_p.S116R	NM_003491	NP_003482	P41227	NAA10_HUMAN	Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.	131	N-acetyltransferase.				DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GCTCCACTTCACTGATCCTGG	0.587000													64	98					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95264399	95264399	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:95264399A>G	uc003ygi.3	-	3	585	c.461T>C	c.(460-462)cTg>cCg	p.L154P	GEM_uc003ygj.3_Missense_Mutation_p.L154P	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	154					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTAGACAATCAGGTATGCGTC	0.517000													25	137					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884829	63884829	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:63884829C>T	uc021qks.1	+	0	1090	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.R364W	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	336					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						TGAGAAGGTCCGGGGCATGGC	0.657000													43	53					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19255993	19255993	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:19255993G>A	uc001mpm.3	-	5	1364	c.842C>T	c.(841-843)aCg>aTg	p.T281M	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.T281M	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	281					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TATCTGAGGCGTTGACACCAA	0.403000													82	105					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564303	140564303	+	Silent	SNP	C	C	T	rs144790293	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140564303C>T	uc003liv.3	+	0	3324	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	723					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGGGCCGCTGCTCGA	0.662000													152	145					0	0	1	0	0
NOXO1	124056	broad.mit.edu	37	16	2030447	2030447	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2030447G>A	uc002cnx.3	-	3	597	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	TCRBV20S1_uc021tak.1_Intron|NOXO1_uc002cny.3_Missense_Mutation_p.R108C|NOXO1_uc002cnz.3_Missense_Mutation_p.R107C|NOXO1_uc002coa.3_Missense_Mutation_p.R112C	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	Homo sapiens NADPH oxidase organizer 1 (NOXO1), transcript variant c, mRNA.	113	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						CGTGCCACGCGCTCTGCAGTC	0.687000													34	52					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914501	147914501	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:147914501G>A	uc003weu.2	+	18	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1044					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1044L(2)|p.P1044P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCACCCGGACCTGGCAC	0.562000										HNSCC(39;0.1)			51	66					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219895832	219895832	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219895832A>G	uc002vjl.1	-	7	1095	c.1011T>C	c.(1009-1011)gcT>gcC	p.A337A	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.A326A|CCDC108_uc010zkq.1_Silent_p.A272A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	337						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCACCCACAGCCTGCAGCT	0.677000													4	6					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5661692	5661692	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5661692G>A	uc002mcg.3	+	14	2197	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	SAFB_uc002mcf.3_Missense_Mutation_p.V676M|SAFB_uc002mce.4_Missense_Mutation_p.V675M|SAFB_uc010xis.2_Missense_Mutation_p.V607M|SAFB_uc010xit.2_Missense_Mutation_p.V518M|SAFB_uc010xir.2_Missense_Mutation_p.V675M|SAFB_uc010xiu.2_Missense_Mutation_p.V475M	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	676	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				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)		ACGCATGCACGTGGAGCACGA	0.711000													12	19					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97846804	97846804	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:97846804G>A	uc003upg.3	-	25	3601	c.3396C>T	c.(3394-3396)gaC>gaT	p.D1132D		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	1132						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAGATATGGTCCCAGCCTC	0.682000													11	11					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914022	23914022	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23914022A>G	uc001uon.2	-	9	4582	c.3993T>C	c.(3991-3993)caT>caC	p.H1331H	SACS_uc001uoo.2_Silent_p.H1184H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1331					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCATGGAAATATGATCTGATG	0.338000													18	19					0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177053603	177053603	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:177053603C>G	uc002ukv.4	+	0	297	c.74C>G	c.(73-75)cCc>cGc	p.P25R	HOXD-AS1_uc021vsq.1_Non-coding_Transcript|HOXD1_uc010fqy.3_Missense_Mutation_p.P25R|HOXD1_uc021vsr.1_Missense_Mutation_p.P25R	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	Homo sapiens homeobox D1 (HOXD1), mRNA.	25						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AGCTTGGCACCCAAGTTCTGC	0.706000													10	15					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836674	4836674	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4836674G>A	uc021tnz.1	+	1	850	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.V259M	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	259										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GACCTCTAACGTGGCCAGTGT	0.502000													47	62					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	107008716	107008716	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:107008716A>C	uc003prh.3	+	16	5582	c.4670A>C	c.(4669-4671)cAg>cCg	p.Q1557P	AIM1_uc003pri.3_Missense_Mutation_p.Q361P	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1557	Beta/gamma crystallin 'Greek key' 12.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAGGGCGACAGTTCCTATTG	0.403000													87	57					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113791	147113791	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:147113791G>A	uc011bno.2	-	2	872	c.686C>T	c.(685-687)cCg>cTg	p.P229L	ZIC4_uc003ewc.2_Missense_Mutation_p.P109L|ZIC4_uc021xff.1_Missense_Mutation_p.P217L|ZIC4_uc003ewd.2_Missense_Mutation_p.P179L|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	179						nucleus	DNA binding|zinc ion binding	p.H228H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCCTGGCGCGGACACTCCTC	0.587000													25	190					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27406980	27406980	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:27406980T>C	uc001mrj.4	-	4	922	c.437A>G	c.(436-438)gAg>gGg	p.E146G	LGR4_uc001mrk.4_Missense_Mutation_p.E122G	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	146						integral to membrane|plasma membrane	protein-hormone receptor activity	p.E146K(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAAACTGTCCTCGGGGACTGA	0.473000													22	28					0	0	1	0	0
TSPAN16	26526	broad.mit.edu	37	19	11409591	11409591	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:11409591C>T	uc002mqv.1	+	2	461	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	104						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GAAGTTACAGCTGCCACAGTG	0.512000													30	69					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60059865	60059865	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:60059865T>C	uc002izo.3	-	15	3576	c.3499A>G	c.(3499-3501)Agg>Ggg	p.R1167G		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1167					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGGTAGCCCTGAGAGCTTCA	0.348000													43	55					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785404	134785404	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:134785404T>C	uc003law.4	-	1	427	c.226A>G	c.(226-228)Aag>Gag	p.K76E	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.K76E	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	76	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCAGGGCCTTGAGGCAGAAG	0.662000													115	95					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885771	88885771	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:88885771C>T	uc003ydz.3	-	0	526	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	143								p.L143L(2)|p.L142F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGAAGCACAGCAGAAGGTGGG	0.562000													110	55					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17581478	17581478	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:17581478G>A	uc002wpr.3	+	1	354	c.99G>A	c.(97-99)aaG>aaA	p.K33K	DSTN_uc002wpq.3_Silent_p.K16K|DSTN_uc010gck.3_Silent_p.K16K	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	33	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAAAGAAAGAAGGCTGTCA	0.398000													4	132					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915781	23915781	+	Missense_Mutation	SNP	C	C	T	rs143677534	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23915781C>T	uc001uon.2	-	9	2823	c.2234G>A	c.(2233-2235)cGt>cAt	p.R745H	SACS_uc001uoo.2_Missense_Mutation_p.R598H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Missense_Mutation_p.R598H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	745				RPCTQLQLLNPERFARLIKEV -> FLFDEDSNGKLKMVAV LITSC (in Ref. 4; BAC03486).	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGATAAGACGTGCAAATCG	0.368000													20	30					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108332220	108332220	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108332220A>G	uc001pkh.3	-	1	137	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	C11orf65_uc010rvx.1_Missense_Mutation_p.W23R|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	23										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AAACTTTTCCAGGCCTGCTGA	0.308000													63	83					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736213	7736213	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:7736213T>C	uc002giu.1	+	82	12959	c.12945T>C	c.(12943-12945)acT>acC	p.T4315T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCGTTTCCACTGTGGATGACA	0.517000													9	387					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33800116	33800116	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:33800116C>T	uc002kzq.4	+	8	1919	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	632					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGCAGGAACCCCGGCTCTGCC	0.532000													25	48					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297595	62297595	+	Missense_Mutation	SNP	C	C	T	rs139799392		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:62297595C>T	uc001ntl.3	-	4	4594	c.4294G>A	c.(4294-4296)Gca>Aca	p.A1432T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1432					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGTTTTGCGTCTGGACCT	0.433000													111	186					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1729657	1729657	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1729657C>T	uc003gdo.3	+	3	683	c.528C>T	c.(526-528)ggC>ggT	p.G176G	TACC3_uc010ibz.3_Silent_p.G176G|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	176						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGTGTCTGGCAGCCCTGAGC	0.552000													58	73					0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61537778	61537778	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:61537778G>A	uc001nsc.1	+	4	617	c.521G>A	c.(520-522)cGc>cAc	p.R174H	C11orf9_uc001nse.1_Missense_Mutation_p.R165H	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	174	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GTGCCCTCCCGCCTGGAGCAT	0.677000													9	10					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445612	87445612	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445612G>A	uc002fjz.1	-	11	2331	c.2304C>T	c.(2302-2304)caC>caT	p.H768H	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.H544H	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	768	His-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTGCtgatggtggtggtggt	0.667000													26	30					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592107	119592107	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:119592107G>A	uc001txa.2	+	11	1839	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	484	Arg-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGCGAGCGCGTCGGAGACGT	0.682000													8	20					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588429	153588429	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153588429C>A	uc004fkk.2	-	21	3983	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.S1245I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1245					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCAGCTTGCTGGGGAAGTT	0.632000													47	58					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128179	152128179	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152128179T>G	uc001ezs.1	-	2	1461	c.1396A>C	c.(1396-1398)Aca>Cca	p.T466P		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	466	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTCTGTCTGACCATAG	0.498000													12	1090					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8416169	8416169	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8416169G>A	uc001ape.3	-	21	5287	c.4477C>T	c.(4477-4479)Cca>Tca	p.P1493S	RERE_uc001apf.3_Missense_Mutation_p.P1493S|RERE_uc001apd.3_Missense_Mutation_p.P939S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1493	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1493T(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCGAAAACTGGGTGGCGAAGC	0.617000													115	161					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113067600	113067600	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:113067600T>C	uc002thq.1	+	3	869	c.475T>C	c.(475-477)Tac>Cac	p.Y159H		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	159							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTTGGTAACTACGGTCAGGA	0.363000													10	19					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70035051	70035051	+	Missense_Mutation	SNP	A	A	G	rs139920396		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70035051A>G	uc010yqo.2	+	5	582	c.68A>G	c.(67-69)gAt>gGt	p.D23G	ANXA4_uc010yqn.1_Non-coding_Transcript|ANXA4_uc002sfr.4_Missense_Mutation_p.D107G|ANXA4_uc002sfs.4_Missense_Mutation_p.D85G	NM_001153	NP_001144	P09525	ANXA4_HUMAN	Homo sapiens annexin A4 (ANXA4), mRNA.	105					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCCGGCACTGATGAGGGCTGC	0.552000													28	41					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686815	68686815	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:68686815T>C	uc001jmz.1	+	1	691	c.141T>C	c.(139-141)tgT>tgC	p.C47C	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.C47C	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	47	LRRNT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGGTATATTGTGAATCTCAGA	0.423000													20	70					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35273866	35273866	+	Silent	SNP	A	A	G	rs151315389	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:35273866A>G	uc001ziw.3	-	2	2124	c.1770T>C	c.(1768-1770)ggT>ggC	p.G590G	ZNF770_uc021siy.1_Silent_p.G590G	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCCCGGTGCTACCAGGAATAA	0.438000													77	95					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842427	227842427	+	Missense_Mutation	SNP	G	G	A	rs145397350		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:227842427G>A	uc021pjy.1	+	3	817	c.641G>A	c.(640-642)gGc>gAc	p.G214D	ZNF678_uc001hqw.2_Missense_Mutation_p.G159D|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	214					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G214V(1)|p.G159V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GACGAATGTGGCAAAGTTTTT	0.333000													4	141					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924173	105924173	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:105924173C>A	uc002tcq.3	-	1	670	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	TGFBRAP1_uc002tcr.4_Missense_Mutation_p.G196C	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	196	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGGGAGACGCCTGTGCTGTAA	0.622000													94	126					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62207260	62207260	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62207260G>T	uc001xfq.2	+	10	1978	c.1574G>T	c.(1573-1575)aGt>aTt	p.S525I	HIF1A_uc001xfr.2_Missense_Mutation_p.S525I|HIF1A_uc001xfs.2_Missense_Mutation_p.S526I|HIF1A_uc021rua.1_Missense_Mutation_p.S549I	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	525	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TATGTGGATAGTGATATGGTC	0.328000													28	31					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658461	72658461	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72658461C>A	uc003txs.1	-	12	1451	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		atgaatatggccaactgggtg	0.433000													50	46					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80343579	80343579	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:80343579C>T	uc004akw.3	-	5	808	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	GNAQ_uc011lso.2_Missense_Mutation_p.R45Q	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	247					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TTCCTCCATTCGGTTCTGGAA	0.333000			Mis		uveal melanoma								53	85					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541415	31541415	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31541415T>C	uc011dnu.1	+	3	776	c.563T>C	c.(562-564)aTc>aCc	p.I188T	LTA_uc003nue.1_Missense_Mutation_p.I188T|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Silent_p.H97H|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	188					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	ACAGATGGCATCCCCCACCTA	0.522000													21	357					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750639	128750639	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:128750639C>T	uc022bbe.1	+	1	701	c.131C>T	c.(130-132)gCg>gTg	p.A44V	MYC_uc003ysh.1_Missense_Mutation_p.A44V|MYC_uc003ysi.3_Missense_Mutation_p.A59V			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	44					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		CAGCCCCCGGCGCCCAGCGAG	0.637000	A59V(RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A59V(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	35					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117484351	117484351	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:117484351C>T	uc001egv.1	+	1	201	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	22						Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTGCCGAGGGCGTGTGGTGAG	0.537000													48	57					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70235387	70235387	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:70235387G>A	uc001xll.3	+	3	1644	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SRSF5_uc021rvj.1_Missense_Mutation_p.E65K|LOC100289511_uc021rvk.1_5'Flank|SRSF5_uc001xln.1_Missense_Mutation_p.E65K|SRSF5_uc001xlo.3_Missense_Mutation_p.E65K|SRSF5_uc001xlp.3_Missense_Mutation_p.E65K	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	65	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						ACTCTGTAGTGAAAGGTGAGA	0.398000													62	82					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37544757	37544757	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:37544757T>C	uc003chd.3	+	5	754	c.701T>C	c.(700-702)cTg>cCg	p.L234P	ITGA9_uc003chc.3_Missense_Mutation_p.L234P	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	234					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TATTTAAAACTGAACGACGAA	0.483000													35	49					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84670463	84670463	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:84670463G>A	uc002son.3	-	2	456	c.263C>T	c.(262-264)cCa>cTa	p.P88L	SUCLG1_uc010ysk.1_Missense_Mutation_p.P75L	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	88					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTTTCCCTGGAGTGGTTCC	0.488000													5	96					0	0	1	0	0
ZFP161	7541	broad.mit.edu	37	18	5290969	5290969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:5290969C>T	uc002kmq.3	-	3	1400	c.1238G>A	c.(1237-1239)aGt>aAt	p.S413N	ZFP161_uc002kmr.3_Missense_Mutation_p.S413N|ZFP161_uc010dkp.3_Missense_Mutation_p.S413N|ZFP161_uc021ugn.1_Missense_Mutation_p.S413N	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	413					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						CTTCCTTTCACTGTGCATATT	0.532000													42	69					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5645075	5645075	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:5645075C>T	uc003sou.3	+	4	1584	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	FSCN1_uc003sov.3_Silent_p.T206T	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	484					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGGCGGAAACCGTGGACCCCG	0.662000													5	3					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945055	144945055	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144945055G>A	uc003zaa.1	-	0	2380	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	789						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCACGCA	0.627000													48	142					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425609	74425609	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:74425609G>A	uc002axd.3	+	3	1283	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	ISLR2_uc002axe.3_Missense_Mutation_p.A172T|ISLR2_uc010bjg.3_Missense_Mutation_p.A172T|ISLR2_uc010bjf.3_Missense_Mutation_p.A172T|ISLR2_uc021sqe.1_Missense_Mutation_p.A172T	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	172					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCGCTTAGCGCGCTGTCACA	0.667000													70	95					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47707956	47707956	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:47707956G>A	uc002rvy.1	+	14	2648	c.2580G>A	c.(2578-2580)tcG>tcA	p.S860S	MSH2_uc010yoh.1_Silent_p.S794S|MSH2_uc002rvz.3_Silent_p.S860S|MSH2_uc010fbg.2_Silent_p.S670S	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	860					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)|p.S860*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGGAGAATCGCAAGGATATG	0.383000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				56	64					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137687154	137687154	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:137687154G>C	uc004cfe.3	+	33	3174	c.2792G>C	c.(2791-2793)gGc>gCc	p.G931A		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	931	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGAAGCCTGGCCCCAAGGTA	0.602000													43	78					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368690	72368690	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72368690C>T	uc021ucp.1	+	3	1340	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	GPR142_uc010wqy.2_Missense_Mutation_p.A447V	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	447						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.A447E(1)|p.E443*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCATGGCGGCGAAGCCTGTG	0.617000													14	28					0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22539003	22539003	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:22539003C>T	uc001wcy.3	+	1	99	c.88_splice	c.e1+1	p.C30_splice	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		CCCAGGTTTGCTGTGAGTTGG	0.488000													4	8					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2828698	2828698	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2828698A>G	uc004cqy.3	-	7	1235	c.1135_splice	c.e7+1	p.G379_splice		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	379						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCACAACTCACCTTTGTAAA	0.453000													18	236					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69466022	69466022	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:69466022C>T	uc001opa.3	+	4	1069	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_053056	NP_444284	P24385	CCND1_HUMAN	Homo sapiens cyclin D1 (CCND1), mRNA.	287					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to UV-A|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.T286I(4)|p.P287L(2)|p.P287S(2)|p.P287H(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTTGCACACCCACCGACGTG	0.716000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			10	13					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418329	139418329	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139418329G>A	uc004chz.3	-	2	243	c.243C>T	c.(241-243)ggC>ggT	p.G81G		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	81	EGF-like 2.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCTGCCACGCCTCTGCGGT	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	11					0	0	1	0	0
CLDN5	7122	broad.mit.edu	37	22	19511475	19511475	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19511475C>T	uc002zpu.2	-	1	774	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	CLDN5_uc010grr.2_Missense_Mutation_p.A187T	NM_003277	NP_003268	O00501	CLD5_HUMAN	Homo sapiens claudin 5 (CLDN5), transcript variant 2, mRNA.	102					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					GTGCACTGCGCGCCCGCCAGG	0.736000													8	8					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153870684	153870684	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:153870684T>C	uc021xgc.1	+	5	1734	c.1450T>C	c.(1450-1452)Ttc>Ctc	p.F484L	ARHGEF26_uc011bog.1_Missense_Mutation_p.F484L|ARHGEF26_uc011boh.1_Missense_Mutation_p.F484L	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	484	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCACCATCTTTTCTCCAATAT	0.378000													3	13					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75543858	75543858	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:75543858C>T	uc004ajd.3	-	3	709	c.392G>A	c.(391-393)cGc>cAc	p.R131H	ALDH1A1_uc011lsh.2_Missense_Mutation_p.R52H	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	131					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGCACAGTAGCGCAATGTTTT	0.428000													48	90					0	0	1	0	0
C8orf73	642475	broad.mit.edu	37	8	144649983	144649983	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144649983G>A	uc010mff.3	-	11	1884	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L		NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA.	614							binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCCGGCGCAGGGGGTCCTGT	0.701000													14	45					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167754717	167754717	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:167754717A>G	uc011bpe.1	-	7	1094	c.750T>C	c.(748-750)ccT>ccC	p.P250P	GOLIM4_uc003ffe.2_Silent_p.P250P|GOLIM4_uc011bpf.1_Silent_p.P222P|GOLIM4_uc011bpg.1_Silent_p.P222P	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	250					transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCTGGATCAGGTTTTCGAA	0.453000													53	93					0	0	1	0	0
PSMB1	5689	broad.mit.edu	37	6	170844432	170844432	+	Missense_Mutation	SNP	C	C	T	rs150833808		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:170844432C>T	uc011ehe.2	-	5	689	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	PSMB1_uc003qxq.2_Intron|PSMB1_uc003qxr.3_Missense_Mutation_p.R100Q	NM_002793	NP_002784	P20618	PSB1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1 (PSMB1), mRNA.	201					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	TTTCACCAGCCGCATGGCTCT	0.512000													67	49					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48686273	48686273	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48686273G>A	uc003cuf.1	-	19	6866	c.6866C>T	c.(6865-6867)aCt>aTt	p.T2289I	CELSR3_uc010hkg.3_Missense_Mutation_p.T202I|CELSR3_uc003cul.3_Missense_Mutation_p.T2219I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2219					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGTGGTCAGTGTGGCCAGT	0.597000													39	43					0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62571740	62571740	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62571740G>A	uc010gkn.3	-	12	1476	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	UCKL1_uc011abm.2_Silent_p.R452R|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	467					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGAGCACGCGCACTGCCA	0.632000													18	42					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91083304	91083304	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91083304G>A	uc010mqj.3	+	4	873	c.373G>A	c.(373-375)Gat>Aat	p.D125N	SPIN1_uc004apy.3_Missense_Mutation_p.D125N|SPIN1_uc004apz.3_Missense_Mutation_p.D125N|SPIN1_uc010mqk.3_Missense_Mutation_p.D125N	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	125					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TCGAATCAGCGATGCACACTT	0.413000													23	31					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30253853	30253853	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:30253853C>T	uc002wwl.3	-	2	967	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	BCL2L1_uc002wwk.3_Non-coding_Transcript|BCL2L1_uc002wwm.3_Missense_Mutation_p.A138T|BCL2L1_uc002wwn.3_Missense_Mutation_p.A201T	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Homo sapiens BCL2-like 1 (BCL2L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	p.A200T(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGCTCTCGGCTGCTGCATTG	0.557000													38	110					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587865	110587865	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:110587865G>A	uc010mcp.3	-	7	1624	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	SYBU_uc003yni.4_Missense_Mutation_p.T418M|SYBU_uc003ynk.4_Missense_Mutation_p.T302M|SYBU_uc003ynj.4_Missense_Mutation_p.T421M|SYBU_uc010mco.3_Missense_Mutation_p.T420M|SYBU_uc003ynl.4_Missense_Mutation_p.T420M|SYBU_uc010mcq.3_Missense_Mutation_p.T421M|SYBU_uc003yno.4_Missense_Mutation_p.T302M|SYBU_uc010mcr.3_Missense_Mutation_p.T421M|SYBU_uc003ynm.4_Missense_Mutation_p.T420M|SYBU_uc003ynn.4_Missense_Mutation_p.T420M|SYBU_uc010mcs.3_Missense_Mutation_p.T302M|SYBU_uc010mct.3_Missense_Mutation_p.T421M|SYBU_uc010mcu.3_Missense_Mutation_p.T420M|SYBU_uc003ynp.4_Missense_Mutation_p.T353M|SYBU_uc010mcv.3_Missense_Mutation_p.T421M|SYBU_uc003ynh.4_Missense_Mutation_p.T215M|SYBU_uc011lhw.2_Missense_Mutation_p.T291M	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	421						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCCTTCCCCCGTGACCTGCTC	0.522000													22	113					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025953	203025953	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203025953G>A	uc009xaj.3	+	23	2657	c.2657G>A	c.(2656-2658)aGc>aAc	p.S886N	PPFIA4_uc010pqf.2_Missense_Mutation_p.S468N|PPFIA4_uc001gyz.3_Missense_Mutation_p.S255N|PPFIA4_uc001gza.3_Missense_Mutation_p.S255N|PPFIA4_uc001gzb.1_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	255					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCAGCAACAGCAGCCAGGAC	0.582000													12	14					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84502845	84502845	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:84502845C>T	uc003how.3	+	3	557	c.339C>T	c.(337-339)acC>acT	p.T113T	AGPAT9_uc003hox.3_Silent_p.T113T|AGPAT9_uc003hoy.3_Silent_p.T113T	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	113					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.T113I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ATGAAGTGACCCAGAGGTTTT	0.468000													59	102					0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50436618	50436618	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:50436618G>A	uc003bje.1	-	9	954	c.722C>T	c.(721-723)cCg>cTg	p.P241L		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	241										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		gccggcccccggccccgggcg	0.682000													47	51					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228506	17228506	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:17228506G>A	uc002dfa.3	-	8	1936	c.1851C>T	c.(1849-1851)taC>taT	p.Y617Y		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	617					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTAGTTCCCGTACAGGTAAT	0.572000													84	108					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890694	55890694	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55890694T>C	uc001nii.1	+	0	846	c.846T>C	c.(844-846)atT>atC	p.I282I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTATTGTGATTCCCATGCTGA	0.368000													46	69					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30085829	30085829	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:30085829A>G	uc003taq.3	+	2	563	c.161A>G	c.(160-162)cAt>cGt	p.H54R	PLEKHA8_uc022aba.1_Missense_Mutation_p.H54R|PLEKHA8_uc003tan.3_Missense_Mutation_p.H54R	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	54	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	p.V53I(1)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CTCCCAGTTCATTCTGTAGAT	0.512000													49	80					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7623913	7623913	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:7623913G>A	uc010xjq.2	+	29	3845	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	PNPLA6_uc002mgq.2_Missense_Mutation_p.R1154H|PNPLA6_uc010xjp.2_Missense_Mutation_p.R1127H|PNPLA6_uc002mgr.2_Missense_Mutation_p.R1154H|PNPLA6_uc002mgs.3_Missense_Mutation_p.R1192H	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1193					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCCAGTCCCGCCTGGCCTAC	0.607000													31	40					0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453981	226453981	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:226453981C>A	uc001hqa.2	-	8	1227	c.917G>T	c.(916-918)cGg>cTg	p.R306L	LIN9_uc001hqb.2_Missense_Mutation_p.R271L|LIN9_uc001hqc.3_Missense_Mutation_p.R238L|LIN9_uc009xel.1_Missense_Mutation_p.R271L	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	290					DNA replication|cell cycle	nucleoplasm		p.R306W(4)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TCGAGAAGGCCGCTGTTTTTG	0.338000													15	11					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726657	69726657	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:69726657C>T	uc002exm.2	+	11	3211	c.2875C>T	c.(2875-2877)Cct>Tct	p.P959S	NFAT5_uc002exj.2_Missense_Mutation_p.P883S|NFAT5_uc002exk.2_Missense_Mutation_p.P883S|NFAT5_uc002exl.2_Missense_Mutation_p.P977S|NFAT5_uc002exn.2_Missense_Mutation_p.P976S|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Missense_Mutation_p.P883S	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	959					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCTCCTGCAGTTTC	0.448000													38	54					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670971	131670971	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131670971C>T	uc004bwl.4	+	2	1782	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	LRRC8A_uc010myp.3_Silent_p.L510L|LRRC8A_uc010myq.3_Silent_p.L510L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	510					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGATCCCGCTGTGGATCTA	0.612000													24	28					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261432	67261432	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67261432G>A	uc001olx.3	-	18	3158	c.2969C>T	c.(2968-2970)gCg>gTg	p.A990V	PITPNM1_uc001olw.3_Missense_Mutation_p.A272V|PITPNM1_uc001oly.3_Missense_Mutation_p.A990V|PITPNM1_uc001olz.3_Missense_Mutation_p.A989V	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	990					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AATGCCCAGCGCGCGTTCTGG	0.682000													28	21					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8114820	8114820	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:8114820C>T	uc002knn.4	+	12	2665	c.2162C>T	c.(2161-2163)aCa>aTa	p.T721I	PTPRM_uc010dkv.3_Missense_Mutation_p.T721I|PTPRM_uc010wzl.2_Missense_Mutation_p.T508I	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	721					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAAGTGGCCACAAAAGGTAGG	0.299000													19	15					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160905191	160905191	+	RNA	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:160905191T>C	uc003qtj.2	-	5		c.937A>G			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CAGGTTGCAGTACTCCCATCT	0.502000													79	49					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217078	51217078	+	Missense_Mutation	SNP	C	C	T	rs138468869		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:51217078C>T	uc002psx.1	-	4	788	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	257					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGTGTCGGGCGCATGCGGCC	0.627000													42	56					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378026	18378026	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18378026C>T	uc010ebn.2	-	2	540	c.324G>A	c.(322-324)acG>acA	p.T108T	KIAA1683_uc002nin.2_Silent_p.T108T|KIAA1683_uc010xqe.1_Silent_p.T62T	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	108	IQ 1.					mitochondrion		p.T108T(2)|p.T108M(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGATGAGCGTGGCTGCAC	0.637000													56	70					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50085296	50085296	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50085296A>G	uc004dox.4	+	8	3910	c.3612A>G	c.(3610-3612)caA>caG	p.Q1204Q	CCNB3_uc004doy.3_Silent_p.Q1204Q|CCNB3_uc004doz.3_Silent_p.Q100Q|CCNB3_uc010njq.3_Silent_p.Q96Q|CCNB3_uc004dpa.3_Silent_p.Q43Q	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1204					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAAGTTACAACTCCTTGGTG	0.468000													43	62					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38182689	38182689	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:38182689T>C	uc003chx.3	+	4	1050	c.866T>C	c.(865-867)cTg>cCg	p.L289P	MYD88_uc011ayi.2_Missense_Mutation_p.L281P|MYD88_uc011ayj.2_3'UTR|MYD88_uc011ayk.2_3'UTR|MYD88_uc011ayl.2_Missense_Mutation_p.L236P	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	268	TIR.				3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity	p.V286_T294del(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCATCCTGAGGTTCATC	0.552000			Mis		ABC-DLBCL								61	80					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18301454	18301454	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:18301454C>T	uc001mod.1	-	22	3643	c.3365G>A	c.(3364-3366)cGg>cAg	p.R1122Q	HPS5_uc001moe.1_Missense_Mutation_p.R1008Q|HPS5_uc001mof.1_Missense_Mutation_p.R1008Q	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	1122						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAGAGAAACCGATCGCATTT	0.403000									Hermansky-Pudlak syndrome				20	34					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900216	151900216	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151900216G>A	uc022chj.1	-	0	585	c.585C>T	c.(583-585)atC>atT	p.I195I	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.I195I|MAGEA12_uc022chi.1_Silent_p.I195I|MAGEA12_uc004fgc.3_Silent_p.I195I	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	195	MAGE.							p.I195I(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCACGATCTGATTGT	0.577000													99	136					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476346	476346	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:476346G>A	uc003jbe.2	-	12	2150	c.2038C>T	c.(2038-2040)Ctg>Ttg	p.L680L	SLC9A3_uc011clx.1_Silent_p.L671L|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	680						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCTTGTACAGCTTGGCCGCC	0.647000													18	46					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767907	57767907	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57767907G>A	uc002yan.3	+	0	1833	c.1833G>A	c.(1831-1833)agG>agA	p.R611R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	611						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCAGAGAAGGCTGAAGATGT	0.597000													46	141					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882440	167882440	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:167882440C>T	uc003lzu.3	+	18	2831	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	WWC1_uc003lzv.3_Missense_Mutation_p.P913L|WWC1_uc011den.2_Missense_Mutation_p.P913L|WWC1_uc003lzw.3_Missense_Mutation_p.P712L|WWC1_uc010jjf.1_Missense_Mutation_p.P185L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	913	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTGGGCACCCCGTCCCAGGGG	0.622000													129	105					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12825886	12825886	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12825886A>G	uc002mup.3	-	6	1484	c.1022T>C	c.(1021-1023)aTc>aCc	p.I341T	TNPO2_uc002muq.3_Missense_Mutation_p.I249T|TNPO2_uc002muo.3_Missense_Mutation_p.I249T|TNPO2_uc002mur.3_Missense_Mutation_p.I249T	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	249					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R341H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGTGGGGGATGAGCCTGTC	0.642000													37	43					0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122165305	122165305	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:122165305T>C	uc003kte.3	+	14	1571	c.1522T>C	c.(1522-1524)Tgg>Cgg	p.W508R	SNX2_uc011cwn.2_Missense_Mutation_p.W391R	NM_003100	NP_003091	O60749	SNX2_HUMAN	Homo sapiens sorting nexin 2 (SNX2), mRNA.	508					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GATAAAATACTGGGAAGCATT	0.343000													21	50					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911796	100911796	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:100911796G>A	uc010nnt.2	-	4	1588	c.779C>T	c.(778-780)aCc>aTc	p.T260I	ARMCX2_uc004eid.2_Missense_Mutation_p.T260I|ARMCX2_uc004eie.3_Missense_Mutation_p.T260I|ARMCX2_uc004eif.3_Missense_Mutation_p.T260I|ARMCX2_uc004eig.3_Missense_Mutation_p.T260I|ARMCX2_uc022caq.1_Missense_Mutation_p.T260I	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	260	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGCCCCAGGGGTTGCTTTCTT	0.602000													47	102					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547798	63547798	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63547798G>A	uc002lkb.3	+	11	2452	c.2026G>A	c.(2026-2028)Gtc>Atc	p.V676I	CDH7_uc002ljz.3_Missense_Mutation_p.V676I	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	676					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAACCTCAACGTCATCCGAGA	0.483000													36	46					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102506038	102506038	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:102506038C>T	uc001yks.2	+	61	11823	c.11659C>T	c.(11659-11661)Ctg>Ttg	p.L3887L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3887					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.L3886L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCATGCTGCTGGCAAGAAT	0.537000													62	67					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:8720914G>A	uc001mgt.3	-	14	2930	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_uc009yfr.3_Missense_Mutation_p.A495V|ST5_uc001mgu.3_Missense_Mutation_p.A495V|ST5_uc001mgv.3_Missense_Mutation_p.A915V|ST5_uc010rbp.2_Missense_Mutation_p.A428V	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	915	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617000													30	23					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72297544	72297544	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72297544C>A	uc011kej.2	-	1	184	c.25G>T	c.(25-27)Gac>Tac	p.D9Y	TYW1B_uc011keh.1_Missense_Mutation_p.D9Y|TYW1B_uc011kek.1_Non-coding_Transcript|SBDSP1_uc003twf.3_5'Flank|SBDSP1_uc011kel.2_5'Flank|SBDSP1_uc003twg.3_5'Flank|SBDSP1_uc003twh.3_5'Flank	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	9					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAGGAGAGGTCCCATGTATCC	0.343000													16	36					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282851	105282851	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:105282851A>G	uc001tla.3	-	3	1007	c.840T>C	c.(838-840)tcT>tcC	p.S280S		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	280						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CCACACTGCTAGAGCACAGAA	0.388000													45	56					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483140	32483140	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:32483140G>A	uc002hhu.3	-	0	686	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	138					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.R138W(1)								Amiloride(DB00594)	GCCTTCTGCCGCAGGGCCTCC	0.592000													50	73					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128843210	128843210	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:128843210G>A	uc009zcp.3	-	20	3149	c.3149C>T	c.(3148-3150)tCc>tTc	p.S1050F	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.S9F|ARHGAP32_uc001qez.3_Missense_Mutation_p.S701F	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1050					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTGCTGTGCGGACTCAGCTAA	0.512000													79	114					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546772	34546772	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:34546772C>A	uc001zhw.3	-	7	1059	c.895G>T	c.(895-897)Gct>Tct	p.A299S	SLC12A6_uc001zhv.3_Missense_Mutation_p.A248S|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.A284S|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.A240S|SLC12A6_uc001zib.3_Missense_Mutation_p.A290S|SLC12A6_uc001zic.3_Missense_Mutation_p.A299S|SLC12A6_uc010bau.3_Missense_Mutation_p.A299S|SLC12A6_uc001zid.3_Missense_Mutation_p.A240S|SLC12A6_uc001zhu.3_Missense_Mutation_p.A111S	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	299					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGATGGCAGCTCGGGGGACG	0.388000													31	52					0	0	1	0	0
HBP1	26959	broad.mit.edu	37	7	106826902	106826902	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106826902C>T	uc003vdy.3	+	4	823	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	HBP1_uc011klv.2_Missense_Mutation_p.H223Y|HBP1_uc003vdz.3_Missense_Mutation_p.H213Y|HBP1_uc003vea.3_Missense_Mutation_p.H213Y|HBP1_uc003veb.1_Missense_Mutation_p.H213Y	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	213	AXH.				Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AACTGTCTGGCACTGTTTTTT	0.398000													53	84					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659512	50659512	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50659512T>C	uc011mnw.2	+	1	1133	c.1084T>C	c.(1084-1086)Tat>Cat	p.Y362H		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	362					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCGTATAAGTATGTTCCAAT	0.463000													45	60					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889906	23889906	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:23889906T>C	uc001ywj.4	-	0	3088	c.2984A>G	c.(2983-2985)gAg>gGg	p.E995G		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACTTGCGACCTCAGACACAAC	0.622000													24	20					0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439515	52439515	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52439515A>G	uc010tgr.1	-	1		c.706_splice	c.e1+1		CCDC70_uc001vfu.4_Missense_Mutation_p.M1V|CCDC70_uc021rjv.1_Splice_Site_p.M1_splice			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTCATCCCTCATGGCCACCCC	0.597000													31	21					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47728788	47728788	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:47728788G>A	uc001crd.1	-	15	2771	c.2616_splice	c.e15-1	p.N872_splice	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Splice_Site_p.N825_splice|STIL_uc010omo.1_Intron|STIL_uc001crc.1_Intron|STIL_uc001cre.1_Intron|STIL_uc001crf.1_Intron|STIL_uc001crg.1_Intron	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	872					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GAGAAGAGCTGCTGGGAAGGA	0.398000													11	18					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69554051	69554051	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:69554051A>G	uc002sfi.2	-	18	2233	c.2050T>C	c.(2050-2052)Tat>Cat	p.Y684H	GFPT1_uc002sfh.3_Missense_Mutation_p.Y666H	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	684	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CTTACATCATAGCCTCTCAGC	0.433000													25	22					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33231322	33231322	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33231322C>T	uc003odm.1	-	16	1943	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	VPS52_uc003odn.1_Missense_Mutation_p.R389Q	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	578					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTGCAGCCCGCTCCTAAGG	0.512000													26	35					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152845675	152845675	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:152845675G>A	uc004fht.1	+	19	3708	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.T331T|ATP2B3_uc004fhu.1_Silent_p.T146T	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1194					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGACCACGCATGTCACCA	0.617000													4	151					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6703716	6703716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:6703716C>T	uc001qpo.3	-	14	2386	c.2222G>A	c.(2221-2223)tGg>tAg	p.W741*	CHD4_uc001qpn.3_Nonsense_Mutation_p.W734*|CHD4_uc001qpp.3_Nonsense_Mutation_p.W738*	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	741	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCCCTGAGCCCAGGAGAAGCG	0.522000													43	56					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141170	21141170	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141170C>T	uc003zol.1	-	0	975	c.400G>A	c.(400-402)Ggg>Agg	p.G134R		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	134					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTAATTGCCCCAGCAGATTCT	0.527000													33	44					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136508685	136508685	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136508685C>A	uc004cel.3	+	3	904	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	299					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCGCCACGTGCTGGCCGCCTG	0.682000													33	56					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2687615	2687615	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:2687615C>T	uc003smp.3	+	4	836	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	TTYH3_uc010ksn.3_Intron|TTYH3_uc003smq.3_Silent_p.L46L	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	217						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCTGGGCCTGCTGCTGCTGGA	0.706000													7	91					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1360206	1360206	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1360206G>A	uc003gde.4	+	7	1722	c.1275G>A	c.(1273-1275)ttG>ttA	p.L425L	UVSSA_uc010ibv.3_5'UTR	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	425																	CCGACCACTTGCGGCCTGAGT	0.637000													68	99					0	0	1	0	0
MSTO2P	100129405	broad.mit.edu	37	1	155717654	155717654	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:155717654T>C	uc010pgo.1	+	6	872	c.861T>C	c.(859-861)acT>acC	p.T287T	GON4L_uc021paz.1_Intron|MSTO2P_uc010pgn.1_Silent_p.T260T|MSTO2P_uc010pgp.2_Non-coding_Transcript					Homo sapiens misato homolog 2 pseudogene (MSTO2P), non-coding RNA.																		GAATAATAACTTGGGGCCTGC	0.532000													18	57					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260667	45260667	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:45260667G>A	uc010xxe.2	+	4	878	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	270					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CGACATCGACGCAGTGGTGAG	0.692000			T	IGH@	CLL								3	8					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42275398	42275398	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42275398C>T	uc003xpe.3	-	10	2251	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	SLC20A2_uc010lxl.3_Missense_Mutation_p.V628M|SLC20A2_uc010lxm.3_Missense_Mutation_p.V628M|SLC20A2_uc011lcu.2_Missense_Mutation_p.V430M	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	628					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGACGGTCACGAACCAGGCC	0.592000													79	64					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22034617	22034617	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:22034617G>A	uc003xbg.3	+	4	961	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Missense_Mutation_p.R232H|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	232	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GACCGGGACCGCCACGTTTCC	0.647000													7	28					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103108398	103108398	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:103108398G>T	uc004bas.3	-	3	1308	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	TEX10_uc011lvf.2_Missense_Mutation_p.L204I|TEX10_uc011lvg.2_Missense_Mutation_p.L368I|TEX10_uc011lvh.1_Missense_Mutation_p.L300I	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	365						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCCACAGAAGGGAAATAATA	0.373000													9	39					0	0	1	0	0
KREMEN2	79412	broad.mit.edu	37	16	3016379	3016379	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:3016379G>A	uc002csg.3	+	3	720	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	KREMEN2_uc010bsw.2_Missense_Mutation_p.G139S|KREMEN2_uc002csi.3_Missense_Mutation_p.G139S|KREMEN2_uc010uwl.2_Missense_Mutation_p.G139S|KREMEN2_uc002csh.3_Missense_Mutation_p.G139S|KREMEN2_uc010bsx.3_Missense_Mutation_p.G139S|PAQR4_uc002csj.4_5'Flank|PAQR4_uc002csk.4_5'Flank|PAQR4_uc002csl.4_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA.	139	WSC.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						AGCCCTCAGCGGCCCCAGCGG	0.642000													60	96					0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32720278	32720278	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:32720278C>T	uc002kyg.3	+	6	1109	c.929C>T	c.(928-930)cCg>cTg	p.P310L	MAPRE2_uc010xcb.2_Missense_Mutation_p.P267L|MAPRE2_uc010xcc.2_Missense_Mutation_p.P298L|MAPRE2_uc002kyh.3_Missense_Mutation_p.P257L|MAPRE2_uc010xcd.2_Missense_Mutation_p.P267L	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	310	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAGAAGAGCCGGAAGCAGAG	0.597000													9	16					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133923762	133923762	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133923762T>C	uc003ytw.3	+	18	4184	c.4143T>C	c.(4141-4143)ccT>ccC	p.P1381P	TG_uc010mdw.3_Silent_p.P140P	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1381					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTCTTCCTGACTTACATG	0.473000													57	148					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750399	234750399	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234750399C>T	uc002vvg.3	-	7	1093	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	HJURP_uc010znd.2_Missense_Mutation_p.V282I|HJURP_uc010zne.2_Missense_Mutation_p.V251I	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	343					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACATCTAATACGTTCTTGCAA	0.438000													20	23					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725897	11725897	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:11725897A>C	uc002gne.3	+	46	9061	c.8993A>C	c.(8992-8994)cAg>cCg	p.Q2998P	DNAH9_uc010coo.3_Missense_Mutation_p.Q2292P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2998	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2997F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTTCTTGCAGAACACAGAG	0.522000													68	92					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839359	62839359	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62839359G>A	uc002yii.3	+	6	1174	c.810G>A	c.(808-810)gaG>gaA	p.E270E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	270	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaagaggaggaggaggagg	0.577000													15	21					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19776481	19776481	+	Silent	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19776481C>G	uc002zqf.1	-	7	972	c.735G>C	c.(733-735)gtG>gtC	p.V245V		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	245					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTCCCACGCACCTGTGAGA	0.642000													26	58					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831988	24831988	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24831988G>A	uc001iru.4	+	18	4192	c.3789G>A	c.(3787-3789)gtG>gtA	p.V1263V	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.V946V|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.V99V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1263					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAAACTGTGCCTAAGGCCA	0.383000													36	29					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41099853	41099853	+	Silent	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:41099853C>G	uc001zmt.1	+	0	580	c.66C>G	c.(64-66)tcC>tcG	p.S22S	DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Silent_p.S22S|ZFYVE19_uc001zmv.1_5'UTR	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	22							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAGAGCGTCCGGATTCCCTG	0.692000													11	16					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998226	112998226	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112998226A>C	uc003dzx.3	+	11	2565	c.1944A>C	c.(1942-1944)aaA>aaC	p.K648N	BOC_uc003dzy.3_Missense_Mutation_p.K648N|BOC_uc003dzz.3_Missense_Mutation_p.K649N|BOC_uc003eab.3_Missense_Mutation_p.K349N|BOC_uc003eac.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	648	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCTAAAGAAAGTGGGAGACT	0.612000													33	54					0	0	1	0	0
DHRS12	79758	broad.mit.edu	37	13	52365373	52365373	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52365373C>A	uc001vfq.3	-	3	342	c.294G>T	c.(292-294)gtG>gtT	p.V98V	DHRS12_uc001vfr.1_Silent_p.V49V|DHRS12_uc001vfs.1_Silent_p.V49V			A0PJE2	DHR12_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 12 (DHRS12), transcript variant 2, mRNA.	98							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CAGACAAGTCCACAATGTGCA	0.299000													8	22					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134382768	134382768	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134382768C>T	uc004cav.3	+	4	496	c.294C>T	c.(292-294)aaC>aaT	p.N98N	POMT1_uc011mci.1_Silent_p.N98N|POMT1_uc004cax.3_Silent_p.N98N|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Silent_p.N98N|POMT1_uc004caw.3_Silent_p.N44N|POMT1_uc011mck.2_5'UTR|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Silent_p.N68N	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	98					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACAGTAGCAACGTGCCTGTGT	0.557000													54	80					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30771603	30771603	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:30771603A>G	uc011aku.2	+	9	2468	c.1808A>G	c.(1807-1809)cAa>cGa	p.Q603R	CCDC157_uc011akv.2_Missense_Mutation_p.Q603R|Em:AC004997.11_uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	603										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGGCGGCTCCAATCAATGCTG	0.617000													26	34					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83788042	83788042	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:83788042C>T	uc003hnh.3	-	9	1296	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	SEC31A_uc003hne.3_Silent_p.Q144Q|SEC31A_uc011ccl.2_Silent_p.Q372Q|SEC31A_uc003hnl.3_Silent_p.Q372Q|SEC31A_uc003hng.3_Silent_p.Q372Q|SEC31A_uc011ccm.2_Silent_p.Q367Q|SEC31A_uc003hni.3_Silent_p.Q372Q|SEC31A_uc003hnk.3_Silent_p.Q372Q|SEC31A_uc003hnf.3_Silent_p.Q372Q|SEC31A_uc011ccn.2_Silent_p.Q372Q|SEC31A_uc003hnm.3_Silent_p.Q372Q|SEC31A_uc003hnn.2_Silent_p.Q372Q|SEC31A_uc003hno.3_Silent_p.Q372Q	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	372	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAGCAGTCTGCTGTGGAATTT	0.433000													70	95					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35500223	35500223	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:35500223G>A	uc010xsf.1	+	1	224	c.224G>A	c.(223-225)cGc>cAc	p.R75H	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R157H|GRAMD1A_uc010xse.1_Missense_Mutation_p.R70H|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R70H|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	70						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACTTCATCCGCAACAGCAAG	0.622000													36	56					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102372596	102372596	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:102372596T>C	uc003pqp.4	+	12	2160	c.1867_splice	c.e12+2	p.G623_splice	GRIK2_uc010kcw.3_Splice_Site_p.G623_splice|GRIK2_uc003pqo.4_Splice_Site_p.G623_splice|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	623					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGCAGCAAGGTATACGATTCA	0.498000													16	45					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498963	75498963	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:75498963C>T	uc002azp.4	+	1	894	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	C15orf39_uc002azq.4_Missense_Mutation_p.R192W|C15orf39_uc021sqm.1_5'UTR|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	192										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACCTTCTTGCGGGGGGTGCC	0.627000													48	62					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046869	1046869	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:1046869T>C	uc002lqw.4	+	13	1922	c.1691T>C	c.(1690-1692)cTg>cCg	p.L564P	ABCA7_uc010dsb.1_Missense_Mutation_p.L426P	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	564					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		TCCGTGACACTGACAGTGAAG	0.687000													4	2					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112824031	112824031	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:112824031G>A	uc003kql.4	-	0	497	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	555					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGTcgctgctgctgctgctgc	0.741000													24	10					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80276069	80276069	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:80276069C>T	uc003uhc.3	+	5	697	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	CD36_uc011kgv.2_Intron|CD36_uc003uhd.4_Missense_Mutation_p.R5W|CD36_uc003uhe.4_Missense_Mutation_p.R5W|CD36_uc003uhf.4_Missense_Mutation_p.R5W|CD36_uc003uhg.4_Missense_Mutation_p.R5W|CD36_uc003uhh.4_Missense_Mutation_p.R5W|CD36_uc022agu.1_Missense_Mutation_p.R5W|CD36_uc022agv.1_Missense_Mutation_p.R5W	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	5					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGGCTGTGACCGGAACTGTGG	0.468000													50	53					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198274672	198274672	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:198274672G>A	uc002uue.3	-	6	774	c.726C>T	c.(724-726)agC>agT	p.S242S		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	242	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.G241*(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGGAGTCTCGCTTCCCTTTG	0.512000			Mis		myelodysplastic syndrome								37	54					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203819736	203819736	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203819736C>T	uc001hac.3	+	17	2649	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V	ZC3H11A_uc001had.3_Missense_Mutation_p.A678V|ZC3H11A_uc001hae.3_Missense_Mutation_p.A678V|ZC3H11A_uc001haf.3_Missense_Mutation_p.A678V|ZC3H11A_uc010pqm.2_Missense_Mutation_p.A624V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	678							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGCACGCTGCTGTCATTGCC	0.502000													29	40					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085795	17085795	+	Silent	SNP	G	G	T	rs1057379	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:17085795G>T	uc010ock.2	-	7	1026	c.1026C>A	c.(1024-1026)atC>atA	p.I342I	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.I332I(2)|p.I342I(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TACAACGCCGGATCTGGTAGC	0.687000													5	29					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143087016	143087016	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143087016T>C	uc003wcx.3	+	8	1718	c.1560T>C	c.(1558-1560)acT>acC	p.T520T	ZYX_uc011ktd.2_Silent_p.T363T|ZYX_uc003wcw.3_Silent_p.T520T|ZYX_uc011kte.2_Silent_p.T489T|ZYX_uc011ktf.2_Silent_p.T363T	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	520	LIM zinc-binding 3.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGATGAGACTGTGCGAGTGG	0.602000													37	42					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20758097	20758097	+	Missense_Mutation	SNP	C	C	A	rs143814736	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:20758097C>A	uc003zog.1	+	7	764	c.401C>A	c.(400-402)cCt>cAt	p.P134H		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	134						integral to membrane	binding										AGAAATCATCCTCATCCTTTG	0.433000													16	22					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808756	241808756	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241808756C>T	uc002waa.4	+	1	456	c.335C>T	c.(334-336)gCc>gTc	p.A112V	AGXT_uc010zoi.1_Missense_Mutation_p.A112V	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	112			A -> D (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGCAGCGAGCCGTGGACATC	0.647000													41	41					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963560	39963560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39963560C>T	uc002olo.4	+	21	2325	c.2146C>T	c.(2146-2148)Ccc>Tcc	p.P716S	SUPT5H_uc002olp.4_Missense_Mutation_p.P716S|SUPT5H_uc002olq.4_Missense_Mutation_p.P712S|SUPT5H_uc002oln.4_Missense_Mutation_p.P716S|SUPT5H_uc002olr.4_Missense_Mutation_p.P716S|SUPT5H_uc002ols.1_Missense_Mutation_p.P339S|SUPT5H_uc010egp.1_Missense_Mutation_p.P82S	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	716	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCCAGGGGCCCTACAAAGG	0.682000													23	41					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7301617	7301617	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7301617G>A	uc001qss.3	+	11	2471	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	CLSTN3_uc001qsr.3_Missense_Mutation_p.V633M	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	633					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGAGGGCTACGTGGTCGTCCT	0.587000													19	34					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8609224	8609224	+	Silent	SNP	G	G	A	rs148640433	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:8609224G>A	uc003bqq.3	+	5	1152	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	LMCD1_uc011atd.2_Silent_p.A273A|LMCD1_uc011ate.2_Silent_p.A234A	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	346	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCGGCCGGGCGTACATCGTCA	0.577000													5	391					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81553673	81553673	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:81553673G>A	uc003yby.2	-	8	1399	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	389						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTCCATCCCGTACACCTTCC	0.572000													12	64					0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6946780	6946780	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:6946780G>A	uc002gei.1	-	0	463	c.125C>T	c.(124-126)gCg>gTg	p.A42V		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	42						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCTGCGGCCGCCACCACCCA	0.697000													15	11					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541791	133541791	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133541791T>C	uc002ttp.3	-	13	2967	c.2593A>G	c.(2593-2595)Att>Gtt	p.I865V	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	865							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGTTTTGGAATGTGTGGATCT	0.537000													42	71					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	155041	155041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:155041C>T	uc003jak.2	+	5	1026	c.976C>T	c.(976-978)Cag>Tag	p.Q326*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	326					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGACAGCTGCCAGCTGACCGC	0.577000													36	39					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17581477	17581477	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:17581477A>C	uc002wpr.3	+	1	353	c.98A>C	c.(97-99)aAg>aCg	p.K33T	DSTN_uc002wpq.3_Missense_Mutation_p.K16T|DSTN_uc010gck.3_Missense_Mutation_p.K16T	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	33	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAAAAGAAAGAAGGCTGTC	0.393000													4	128					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873408	36873408	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:36873408A>G	uc003cgj.3	-	20	7782	c.7534T>C	c.(7534-7536)Tcg>Ccg	p.S2512P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2512					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCTCACCCGAGACCACATAG	0.527000													54	74					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107420159	107420159	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:107420159G>A	uc004enw.4	-	27	2704	c.2601C>T	c.(2599-2601)ggC>ggT	p.G867G	COL4A6_uc004env.4_Silent_p.G866G|COL4A6_uc011msn.2_Silent_p.G866G|COL4A6_uc010npk.3_Silent_p.G866G	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	867	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCAGGAAGGCCTTTTAGCC	0.532000									Alport syndrome with Diffuse Leiomyomatosis				89	164					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16528892	16528892	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:16528892G>A	uc002ndx.3	-	10	980	c.974C>T	c.(973-975)aCg>aTg	p.T325M	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.T215M|EPS15L1_uc002ndz.1_Missense_Mutation_p.T325M|EPS15L1_uc010xpf.1_Missense_Mutation_p.T228M|EPS15L1_uc002nea.1_Missense_Mutation_p.T325M|EPS15L1_uc010eah.1_Missense_Mutation_p.T325M|EPS15L1_uc002neb.1_Missense_Mutation_p.T171M|EPS15L1_uc002nec.1_Missense_Mutation_p.T325M	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	325	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TAACTTCCCCGTTTGCCTCGT	0.537000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	43					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	rs147856179	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103465909C>T	uc001ymi.1	-	4	821	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	197	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACCTGTGCACGTAATGAAGC	0.463000													41	78					0	0	1	0	0
C11orf46	120534	broad.mit.edu	37	11	30354531	30354531	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:30354531G>A	uc001mso.1	+	2	709	c.545G>A	c.(544-546)gGt>gAt	p.G182D		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	182										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						GCAACCGCTGGTTCAGACAGG	0.378000													26	33					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126312029	126312029	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:126312029C>T	uc001lhv.1	-	4	1574	c.1051G>A	c.(1051-1053)Gct>Act	p.A351T	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	351										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GGGGTCCCAGCGGGGGTCCTG	0.706000													5	17					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261869	151261869	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151261869C>T	uc001exq.3	+	4	2585	c.2487C>T	c.(2485-2487)tgC>tgT	p.C829C	ZNF687_uc009wmo.3_Silent_p.C829C|ZNF687_uc009wmp.3_Silent_p.C829C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTACAAGTGCGCCATGTGCG	0.612000													64	86					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037432	220037432	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220037432G>C	uc002vju.4	-	7	1261	c.1109C>G	c.(1108-1110)aCc>aGc	p.T370S	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Missense_Mutation_p.T370S	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	370	Pro-rich.				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CAGGCCATAGGTATGGTACCA	0.617000													31	24					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979571	50979571	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50979571G>T	uc002psh.3	-	0	433	c.75C>A	c.(73-75)ctC>ctA	p.L25L	FAM71E1_uc002psg.3_Silent_p.L25L|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	25										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CGTCACACAAGAGCGGGCTCC	0.662000													17	28					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228411	124228411	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124228411A>G	uc001ufr.3	+	9	1366	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	373					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATCCGCACCAACAAATTCACC	0.453000													14	160					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33053232	33053232	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33053232G>A	uc003zsf.1	-	9	1287	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	SMU1_uc011lnu.1_Silent_p.T232T	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	393						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTGTCCCTGCGGTGCTGCCCA	0.398000													38	47					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6031488	6031488	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6031488G>A	uc010idb.1	-	19	2886	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D	JAKMIP1_uc010idc.1_Silent_p.D615D|JAKMIP1_uc010idd.1_Missense_Mutation_p.T538I	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	571					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTCCAGTTTGTCCTCCAGTT	0.418000													5	9					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4534907	4534907	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4534907A>G	uc002fyh.3	-	13	2002	c.1977T>C	c.(1975-1977)agT>agC	p.S659S	ALOX15_uc010vsd.2_Silent_p.S620S|ALOX15_uc010vse.2_Silent_p.S681S	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	659	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGATGGCCACACTGTTTTCCA	0.577000													40	59					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37506904	37506904	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:37506904G>A	uc002rqd.3	-	6	1712	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	PRKD3_uc002rqe.1_5'Flank|PRKD3_uc002rqf.1_Missense_Mutation_p.A386V	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	386					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGTTTTAACGGCTTCTTCATC	0.408000													21	58					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142148219	142148219	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:142148219T>C	uc003yvy.3	+	2	522	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	DENND3_uc003yvw.1_Missense_Mutation_p.Y95H|DENND3_uc003yvx.3_Missense_Mutation_p.Y162H|DENND3_uc010mep.3_Missense_Mutation_p.Y95H	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	82	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGGCCCAGTACTACCGGCC	0.512000													4	30					0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120388230	120388230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120388230C>T	uc002tmb.3	+	18	2070	c.958C>T	c.(958-960)Cga>Tga	p.R320*	PCDP1_uc010yyq.2_Nonsense_Mutation_p.R450*	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	606						cilium	calmodulin binding					Colorectal(110;0.196)					AAAGCTTGCCCGAGCCCTAAA	0.448000													27	31					0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28314409	28314409	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28314409C>T	uc003xgu.3	-	4	479	c.381G>A	c.(379-381)caG>caA	p.Q127Q	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Silent_p.Q114Q	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	127	F-box.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GCATCCAGAGCTGGTCCAGCT	0.423000													89	27					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139189663	139189663	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:139189663C>T	uc003yuy.3	-	11	1201	c.1030_splice	c.e11-1	p.V344_splice	FAM135B_uc003yux.3_Splice_Site_p.V245_splice|FAM135B_uc003yuz.3_Splice_Site	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	344										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AACCTTCGGACCTGCAGAATA	0.373000										HNSCC(54;0.14)			13	26					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56970921	56970921	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:56970921G>T	uc002adu.3	-	10	1320	c.1103C>A	c.(1102-1104)cCc>cAc	p.P368H	ZNF280D_uc002adv.3_Missense_Mutation_p.P355H|ZNF280D_uc010bfq.3_Missense_Mutation_p.P368H|ZNF280D_uc002adw.1_Missense_Mutation_p.P396H|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AAATGGTGTGGGAAACTGACG	0.408000													33	48					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72470735	72470735	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72470735T>C	uc002jkv.3	+	2	765	c.444T>C	c.(442-444)ttT>ttC	p.F148F	CD300A_uc002jkw.3_Silent_p.F35F|CD300A_uc010dfr.3_Silent_p.F35F|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	148					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CAACTGCATTTCCACCTGTAT	0.532000													49	69					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102883486	102883486	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:102883486C>G	uc003vbh.4	-	9	2432	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		CCTCCCAGTTCAGTACCACTG	0.313000													3	15					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160526039	160526039	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:160526039G>A	uc003qta.3	+	47	7547	c.7399G>A	c.(7399-7401)Gca>Aca	p.A2467T		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2467					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTCCAGCTCTGCACAGCAGAA	0.597000													17	40					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135392371	135392371	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:135392371T>C	uc003lbf.4	+	11	1726	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	TGFBI_uc003lbg.4_Missense_Mutation_p.I255T|TGFBI_uc003lbh.4_Missense_Mutation_p.I348T|TGFBI_uc011cyb.2_Missense_Mutation_p.I348T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	522	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAGCTGCCATCCAGTCTGCA	0.502000													28	63					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74315095	74315095	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:74315095T>C	uc003hgz.1	+	8	1149	c.1102T>C	c.(1102-1104)Tca>Cca	p.S368P	AFP_uc011cbg.1_Missense_Mutation_p.S142P	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	368	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTGCTGTCTCAGTAATTCT	0.373000									Alpha-Fetoprotein, Hereditary Persistence of				28	41					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740968	73740968	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73740968A>G	uc004ebt.2	+	2	963	c.797_splice	c.e2+1	p.S266_splice		NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	192						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTCCTTCACCAGGTAAGGCTA	0.517000													50	56					0	0	1	0	0
TMEM102	284114	broad.mit.edu	37	17	7339922	7339922	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:7339922A>C	uc002ggx.1	+	2	897	c.624A>C	c.(622-624)aaA>aaC	p.K208N	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Missense_Mutation_p.K208N	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	208					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTTTGGAAAAATCGCCTAGTG	0.552000													59	78					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2242253	2242253	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:2242253C>T	uc003ges.1	-	1	651	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E141K|HAUS3_uc003get.1_Missense_Mutation_p.E141K	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.	141					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTCTTCTTCTTTAGCATTT	0.353000													26	40					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32778914	32778914	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:32778914T>C	uc011axj.1	+	12	1784	c.1707T>C	c.(1705-1707)caT>caC	p.H569H	CNOT10_uc011axi.1_Silent_p.H281H|CNOT10_uc003cfc.1_Silent_p.H509H|CNOT10_uc003cfd.1_Silent_p.H508H|CNOT10_uc003cfe.1_Intron|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Silent_p.H204H	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	509					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GTAAAAGCCATGATGGAGATA	0.323000													10	25					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	214328	214328	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:214328A>G	uc001lof.3	+	9	1917	c.1592A>G	c.(1591-1593)gAc>gGc	p.D531G	RIC8A_uc001log.3_Missense_Mutation_p.D525G|RIC8A_uc001loh.3_Missense_Mutation_p.D518G	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	525						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTCctcggaccctgactcg	0.597000													4	10					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179146716	179146716	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:179146716C>A	uc011dgp.2	+	8	1139	c.1064C>A	c.(1063-1065)cCc>cAc	p.P355H	CANX_uc010jlb.1_Missense_Mutation_p.P256H|CANX_uc003mkk.3_Missense_Mutation_p.P320H|CANX_uc003mkl.3_Missense_Mutation_p.P320H|CANX_uc011dgq.2_Missense_Mutation_p.P212H	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	320	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCACAAAACCCGAAGGCTGG	0.423000													18	17					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41612173	41612173	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41612173C>A	uc003azo.3	+	3	481	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	L3MBTL2_uc010gyi.1_Missense_Mutation_p.L52M|L3MBTL2_uc003azn.3_Non-coding_Transcript|AK057177_uc003azp.1_Intron	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	143					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCCAAAGTCCTGCACAAGGC	0.557000													13	25					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004877	101004877	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:101004877G>A	uc010txa.2	-	5	1357	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	BEGAIN_uc001yhp.3_Missense_Mutation_p.P340L|BEGAIN_uc001yhq.3_Missense_Mutation_p.P404L	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	404						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGCGGTCCCCGGCTTGGCCCG	0.726000													9	8					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486999	94486999	+	Missense_Mutation	SNP	C	C	T	rs146067291		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:94486999C>T	uc004arj.2	-	8	1976	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	ROR2_uc004ari.1_Missense_Mutation_p.V453M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	593	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.F592F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACAAGGTGCACGAAGTCGGGG	0.632000													20	29					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438732	120438732	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120438732G>T	uc021vnk.1	+	0	303	c.303G>T	c.(301-303)ggG>ggT	p.G101G	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.G101G|TMEM177_uc002tmc.1_Silent_p.G101G|TMEM177_uc002tmd.2_Silent_p.G101G|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	101						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TCCCTGCTGGGGCTGTGGTGG	0.562000													145	225					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58139606	58139606	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:58139606G>A	uc001spt.3	+	1	296	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TSPAN31_uc009zqb.3_Missense_Mutation_p.G48R|TSPAN31_uc010ssa.2_5'UTR	NM_005981	NP_005972	Q12999	TSN31_HUMAN	Homo sapiens tetraspanin 31 (TSPAN31), mRNA.	48					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CATCATCGGCGGAGTCATTGC	0.552000													33	95					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133910007	133910007	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133910007C>T	uc003ytw.3	+	11	3156	c.3115C>T	c.(3115-3117)Cct>Tct	p.P1039S	TG_uc010mdw.3_5'UTR	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1039	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGTTGGGAGCCTGTGCAGTG	0.597000													36	111					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082500	152082500	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152082500C>T	uc009wne.1	-	2	3465	c.3193G>A	c.(3193-3195)Gga>Aga	p.G1065R	TCHH_uc001ezp.2_Missense_Mutation_p.G1065R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1065	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctcccagcagctgc	0.597000													5	213					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100709497	100709497	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:100709497G>A	uc001thn.3	+	8	1307	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	SCYL2_uc009ztw.1_Silent_p.Q246Q|SCYL2_uc001thm.1_Silent_p.Q419Q	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	419					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTTTAAGCAGCAGGAGCCAA	0.338000													17	20					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83806836	83806836	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:83806836T>C	uc011dyy.2	+	3	398	c.138_splice	c.e3+2	p.K46_splice	DOPEY1_uc003pjs.1_Splice_Site_p.K46_splice|DOPEY1_uc010kbl.1_Splice_Site_p.K46_splice	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	46					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTAATAAGGTATGTCTGTAT	0.308000													117	81					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586500	53586500	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:53586500A>G	uc003xre.4	-	6	1465	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	RB1CC1_uc003xrf.4_Missense_Mutation_p.F303L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	303					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTAAAAAAGGGCAGATCA	0.388000													121	49					0	0	1	0	0
LOC283922	283922	broad.mit.edu	37	16	74372644	74372644	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:74372644A>G	uc002fcr.2	-	8	1661	c.315T>C	c.(313-315)ccT>ccC	p.P105P	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		TACCCTTGTCAGGGGGAACAA	0.443000													10	48					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640477	58640477	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58640477A>G	uc002qrn.3	-	3	631	c.394T>C	c.(394-396)Tcc>Ccc	p.S132P	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.S132P	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ACTTCCATGGAATGGTTGAAG	0.423000													62	55					0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247419684	247419684	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:247419684T>C	uc010pyu.2	+	1	308	c.308T>C	c.(307-309)tTa>tCa	p.L103S		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	104					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TTGGTGTCCTTAGACTTCTTT	0.438000													47	59					0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77703350	77703350	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:77703350C>T	uc002lnl.2	-	2	488	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	PQLC1_uc010dre.2_Missense_Mutation_p.A23T|PQLC1_uc002lnk.2_Missense_Mutation_p.A106T|PQLC1_uc010xfm.1_Missense_Mutation_p.A106T	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	106						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGGCGCCTGGCGTTGAGCTCG	0.582000													116	142					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65351790	65351790	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65351790C>T	uc001oeo.4	+	9	3437	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	1058	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCGTGGCGTCCGCATCACCAA	0.627000													70	95					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46667538	46667538	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46667538A>G	uc001nda.3	+	4	898	c.270_splice	c.e4+1	p.E90_splice	ATG13_uc009yld.3_Splice_Site_p.E90_splice|ATG13_uc001ndb.3_Splice_Site_p.E90_splice|ATG13_uc001ncz.3_Splice_Site_p.E90_splice|ATG13_uc001ndc.3_Splice_Site_p.E90_splice|ATG13_uc010rgv.2_Splice_Site_p.E11_splice	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	90					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AAGACTTCTGAGGTAAGGCTA	0.502000													25	31					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912571	29912571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:29912571G>A	uc002dut.3	+	0	425	c.279G>A	c.(277-279)tgG>tgA	p.W93*	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	93					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGTTCCTCTGGTACTGCTACC	0.682000													55	83					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153179298	153179298	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153179298G>A	uc004fjk.2	-	7	1126	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ARHGAP4_uc011mzf.2_Silent_p.D333D|ARHGAP4_uc004fjl.2_Silent_p.D396D|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	356					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAATCTCGTCCCGCAGCT	0.652000													23	37					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042527	75042527	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:75042527G>A	uc002ayr.1	+	1	512	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	150					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.A150T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTTCTCCATCGCCTCTGACCC	0.622000													108	167					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:124857495A>C	uc001qbm.4	+	7	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													5	155					0	0	1	0	0
COX6A1	1337	broad.mit.edu	37	12	120878307	120878307	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120878307G>A	uc001tyf.1	+	2	323	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_004373	NP_004364	P12074	CX6A1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), nuclear gene encoding mitochondrial protein, mRNA.	99					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTCATGTGAATCCACTTC	0.458000													19	23					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80049428	80049428	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80049428C>T	uc002kdu.3	-	8	1279	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	388	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TTGATGCCCACGTTGCCGCCA	0.682000													10	9					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124266662	124266662	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124266662T>A	uc003yqe.3	-	2	2135	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Nonsense_Mutation_p.K509*|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Nonsense_Mutation_p.K509*|ZHX1_uc022bak.1_Nonsense_Mutation_p.K509*	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	509	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AACCATTTTTTAATCTCTCCT	0.348000													80	215					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531421	140531421	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140531421G>A	uc003lir.3	+	0	1583	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	528	Cadherin 5.				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)			TTCGAGTTCCGCGTGGGCGCC	0.657000													113	116					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25715915	25715915	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:25715915C>T	uc003xes.2	-	13	1713	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	483	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGGACATTGCTGTAGCCATT	0.517000													38	120					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47085770	47085770	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47085770C>T	uc011mli.2	+	8	1427	c.903C>T	c.(901-903)aaC>aaT	p.N301N	CDK16_uc011mlj.2_3'UTR|CDK16_uc004dho.3_Silent_p.N295N|CDK16_uc011mlk.2_Silent_p.N295N|CDK16_uc011mll.2_Silent_p.N369N	NM_033018	NP_006192	Q00536	CDK16_HUMAN	Homo sapiens cyclin-dependent kinase 16 (CDK16), transcript variant 2, mRNA.	295	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGCTCATCAACGAGAGGGGAG	0.587000													17	20					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33037547	33037547	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33037547C>T	uc003ocs.2	-	1	324	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	HLA-DPA1_uc021ywg.1_Missense_Mutation_p.V73I|HLA-DPA1_uc021ywh.1_Missense_Mutation_p.V73I|HLA-DPA1_uc010juk.3_Missense_Mutation_p.V73I	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	73	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGATGCCAGACGGTCTCCTTC	0.458000													41	28					0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33581397	33581397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:33581397C>T	uc021qfs.1	+	5	3191	c.3067C>T	c.(3067-3069)Cag>Tag	p.Q1023*	C11orf41_uc001mun.1_Nonsense_Mutation_p.Q1029*	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1023						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CCTCCTCAGCCAGCTCTCGGC	0.597000													59	99					0	0	1	0	0
LOC283392	283392	broad.mit.edu	37	12	72666576	72666576	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:72666576C>T	uc010stv.2	-	0	714	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	TRHDE_uc001sxa.3_Silent_p.A6A|LOC283392_uc021rat.1_5'Flank					Homo sapiens uncharacterized LOC283392 (LOC283392), transcript variant 2, non-coding RNA.																		AAGACGACGCCGCGCTTCGGG	0.662000													11	10					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44146234	44146234	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:44146234A>G	uc003tkb.3	+	1	648	c.343A>G	c.(343-345)Agg>Ggg	p.R115G		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	115	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGGGTCCCCCAGGCCGCCCAA	0.577000													15	5					0	0	1	0	0
PHLDA2	7262	broad.mit.edu	37	11	2950201	2950201	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:2950201C>T	uc021qci.1	-	0	394	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	PHLDA2_uc001lxa.1_Missense_Mutation_p.A132T	NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 2 (PHLDA2), mRNA.	132	Poly-Ala.				apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGGTGCGGCGGCCGCGGCA	0.756000													6	2					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994016	45994016	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45994016C>A	uc002zfk.1	+	0	411	c.381C>A	c.(379-381)ccC>ccA	p.P127P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	127	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.P127S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTGTGTGCCCGTCTGCTGTG	0.647000													20	210					0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123202	66123202	+	RNA	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:66123202A>G	uc002jgq.3	+	5		c.2325A>G								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		AGGAGCAAATACTTCTGGAAA	0.408000													15	16					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155206447	155206447	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:155206447A>G	uc021xge.1	-	19	2780	c.2503_splice	c.e19+1	p.G835_splice	PLCH1_uc021xgd.1_Splice_Site_p.G835_splice|PLCH1_uc021xgf.1_Splice_Site_p.G817_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	835					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTCATACCTACCAGGCACTA	0.408000													24	28					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217016	111217016	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:111217016T>C	uc001dzv.1	-	0	640	c.416A>G	c.(415-417)tAc>tGc	p.Y139C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	139						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGTCGAAGTACCTCATGCG	0.647000													73	84					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67790205	67790205	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67790205G>A	uc010rpy.2	+	9	1202	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	ALDH3B1_uc001omz.3_Silent_p.L362L|ALDH3B1_uc001ona.3_Silent_p.L326L|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	364					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CCCTGGCCCTGTACGCCTTCT	0.677000													57	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438269	179438269	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179438269A>G	uc021vsy.1	-	274	65111	c.64886T>C	c.(64885-64887)gTc>gCc	p.V21629A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V15324A|TTN_uc021vta.1_Missense_Mutation_p.V15257A|TTN_uc021vtb.1_Missense_Mutation_p.V15132A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22556	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGCCATGACACGGAATAT	0.453000													81	158					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005246	37005246	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:37005246T>C	uc002oee.2	-	3	1817	c.895A>G	c.(895-897)Aca>Gca	p.T299A	ZNF260_uc010eey.2_Missense_Mutation_p.T299A|ZNF260_uc002oef.2_Missense_Mutation_p.T299A|ZNF260_uc002oed.2_Missense_Mutation_p.T299A|ZNF260_uc021uti.1_Missense_Mutation_p.T299A	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	299					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCTCTCCTGTATGAATATTG	0.353000													53	50					0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77091020	77091020	+	Splice_Site	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:77091020A>C	uc003hju.2	-	8	1469	c.1113_splice	c.e8+1	p.P371_splice	SCARB2_uc011cbu.2_Splice_Site_p.P228_splice	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	371					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			ATGTACTCACAGGATTAATGT	0.393000													38	61					0	0	1	0	0
FBXO45	200933	broad.mit.edu	37	3	196304421	196304421	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196304421A>G	uc010iai.3	+	1	547	c.416A>G	c.(415-417)cAg>cGg	p.Q139R		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	Homo sapiens F-box protein 45 (FBXO45), mRNA.	139	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCCATTGCTCAGAGCACTGAT	0.498000													13	20					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183515755	183515755	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183515755G>A	uc003fly.2	+	21	3337	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1048					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCAGCAGGCCGTCCTGACGAT	0.512000													29	35					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5494824	5494824	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:5494824A>G	uc001iia.3	+	5	673	c.535A>G	c.(535-537)Ata>Gta	p.I179V	NET1_uc010qar.2_5'UTR|NET1_uc001iib.3_Missense_Mutation_p.I125V|NET1_uc010qas.2_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	179	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTTTAGGCAATATATGAAAT	0.323000													9	73					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784494	90784494	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:90784494A>G	uc002bpc.3	+	3	533	c.354A>G	c.(352-354)gcA>gcG	p.A118A	GDPGP1_uc021suh.1_Silent_p.A118A	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	118					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										TGAGGCAGGCATTTGACCCTG	0.582000													5	156					0	0	1	0	0
ZNF22	7570	broad.mit.edu	37	10	45499133	45499133	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:45499133C>T	uc001jbw.3	+	1	560	c.317C>T	c.(316-318)aCg>aTg	p.T106M	C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Missense_Mutation_p.T106M	NM_006963	NP_008894	P17026	ZNF22_HUMAN	Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA.	106					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CGGATCCATACGGGGGAAAAG	0.418000													24	60					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331278	40331278	+	Missense_Mutation	SNP	C	C	T	rs139541583		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40331278C>T	uc002omn.3	-	1	274	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	FBL_uc002omm.1_5'Flank|FBL_uc002omo.2_Missense_Mutation_p.G54S|FBL_uc010egr.3_Missense_Mutation_p.G54S	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	54	DMA/Gly-rich.				rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		cctcctccaccgccgccgccg	0.662000													17	17					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8521547	8521547	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:8521547C>T	uc003zkk.3	-	20	1435	c.692_splice	c.e20-1	p.V231_splice	PTPRD_uc003zkp.3_Splice_Site_p.V231_splice|PTPRD_uc003zkq.3_Splice_Site_p.V231_splice|PTPRD_uc003zkr.3_Splice_Site_p.V225_splice|PTPRD_uc003zks.3_Splice_Site_p.V221_splice|PTPRD_uc022bdj.1_Splice_Site_p.V228_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	231					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACACGGCGAACTGGAACAAAA	0.438000										TSP Lung(15;0.13)			34	45					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696631	176696631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176696631C>T	uc003mfr.4	+	15	5470	c.5332C>T	c.(5332-5334)Cga>Tga	p.R1778*	NSD1_uc003mft.4_Nonsense_Mutation_p.R1509*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1675*|NSD1_uc011dfx.2_Nonsense_Mutation_p.R1426*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1778	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.R1778*(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGCCATCCTCGAGCTGTTCC	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			50	34					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10153098	10153098	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:10153098G>A	uc004csy.4	+	2	456	c.26G>A	c.(25-27)gGc>gAc	p.G9D	CLCN4_uc011mid.2_Intron	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	9						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGATGAGTGGCTCTGGAAAC	0.517000													5	107					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41284281	41284281	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:41284281C>T	uc001cgh.2	+	3	719	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	KCNQ4_uc001cgi.2_Missense_Mutation_p.R213C	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	213					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GCAGATCCTGCGCATGGTGCG	0.687000													23	25					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47884125	47884125	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47884125T>C	uc010xyn.2	+	14	3384	c.3035T>C	c.(3034-3036)gTg>gCg	p.V1012A	DHX34_uc010xyo.1_Missense_Mutation_p.V141A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	1012						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AACATGTATGTGGGACCCCAG	0.592000													3	70					0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176893804	176893804	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176893804G>A	uc003mgx.2	-	8	1028	c.746C>T	c.(745-747)gCc>gTc	p.A249V	DBN1_uc003mgy.2_Missense_Mutation_p.A247V|DBN1_uc010jkn.1_Missense_Mutation_p.A197V|DBN1_uc003mgz.1_Missense_Mutation_p.A184V	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	247					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCCTCTTGGCCTCTTCCGC	0.612000													5	403					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32351561	32351561	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:32351561G>A	uc001utt.3	+	7	761	c.690G>A	c.(688-690)acG>acA	p.T230T	RXFP2_uc010aba.3_Silent_p.T230T	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	230						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCTTGTTTACGGGATTAAATT	0.318000													6	13					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32768513	32768513	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:32768513G>A	uc010ezu.3	+	61	12631	c.12497G>A	c.(12496-12498)cGt>cAt	p.R4166H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4166					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTTCTTCGTCTTCCGGGC	0.483000													92	132					0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43034148	43034148	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:43034148C>T	uc003otw.1	+	4	1049	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Missense_Mutation_p.R226C|KLC4_uc003otv.1_Missense_Mutation_p.R226C|KLC4_uc011dvd.1_Missense_Mutation_p.R149C|KLC4_uc003otx.1_Missense_Mutation_p.R226C|KLC4_uc003oty.1_Missense_Mutation_p.R226C|KLC4_uc003otz.1_Missense_Mutation_p.R226C	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	226						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCCCAAGGTCGCTATGAGGT	0.597000													43	84					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111117897	111117897	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:111117897C>A	uc001vqx.3	+	24	2211	c.1922C>A	c.(1921-1923)cCt>cAt	p.P641H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	641	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCGGCTTACCTGGACCACCA	0.597000													35	32					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140799074	140799074	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140799074G>A	uc003lkn.2	+	0	1815	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.V550M|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCGTGTTGGTGGG	0.721000													23	71					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25675930	25675930	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:25675930C>A	uc003grr.3	+	10	1310	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	SLC34A2_uc003grs.3_Missense_Mutation_p.P409H|SLC34A2_uc010iev.3_Missense_Mutation_p.P409H	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	410					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCCCTTTCCCTTTGCATGG	0.602000			T	ROS1	NSCLC								22	45					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													7	169					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234070428	234070428	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234070428C>T	uc010zmo.2	+	9	1262	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	INPP5D_uc010zmp.2_Missense_Mutation_p.P369L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	399					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCAGAGCAGCCGGAGCCCGAC	0.587000													13	10					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402797	65402797	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65402797C>T	uc001oey.2	+	30	5062	c.5062C>T	c.(5062-5064)Cgc>Tgc	p.R1688C	PCNXL3_uc001oez.2_Missense_Mutation_p.R575C|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1688						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCAGCATGGCGCAGCGCCAT	0.612000													12	7					0	0	1	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35530093	35530093	+	RNA	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:35530093G>C	uc001ziy.3	+	0		c.567G>C								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		tggaggacgaggaggaggagg	0.532000													10	8					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107355874	107355874	+	Missense_Mutation	SNP	C	C	T	rs111033255	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:107355874C>T	uc003vep.3	+	20	2550	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	SLC26A4_uc011kmb.2_Missense_Mutation_p.R363C|SLC26A4_uc011kmc.2_Missense_Mutation_p.R337C|SLC26A4_uc011kmd.2_Missense_Mutation_p.R345C	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	776			R -> C (retains its ability to transport iodide in vitro).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAGGCTATGCGTACACTTGC	0.368000									Pendred syndrome				4	152					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44105047	44105047	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:44105047T>C	uc002rtq.3	+	12	2107	c.2017T>C	c.(2017-2019)Tgg>Cgg	p.W673R	ABCG8_uc010yoa.2_Missense_Mutation_p.W672R	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	673					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGTCAAGACTGGTGATTCAC	0.562000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	32					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54570837	54570837	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:54570837T>C	uc003jpx.3	-	15	2548	c.2428_splice	c.e15-1	p.E810_splice	DHX29_uc010ivw.3_Splice_Site	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	810							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGGGATGTATTCCTAAAAGAA	0.358000													38	27					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79973119	79973119	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:79973119C>T	uc004edt.3	-	18	2447	c.2184G>A	c.(2182-2184)gcG>gcA	p.A728A	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Silent_p.A557A|BRWD3_uc004edq.3_Silent_p.A324A|BRWD3_uc010nmj.2_Silent_p.A324A|BRWD3_uc004edr.3_Silent_p.A398A|BRWD3_uc004eds.3_Silent_p.A324A|BRWD3_uc004edo.3_Silent_p.A324A|BRWD3_uc004edu.3_Silent_p.A398A|BRWD3_uc004edv.3_Silent_p.A324A|BRWD3_uc004edw.3_Silent_p.A324A|BRWD3_uc004edx.3_Silent_p.A324A|BRWD3_uc004edy.3_Silent_p.A324A|BRWD3_uc004edz.3_Silent_p.A398A|BRWD3_uc004eea.3_Silent_p.A398A|BRWD3_uc004eeb.3_Silent_p.A324A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	728										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTGCTCCACGCCATGAGAT	0.393000													56	88					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152666	50152666	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:50152666G>T	uc001zxu.3	-	27	3446	c.3304C>A	c.(3304-3306)Cgg>Agg	p.R1102R	ATP8B4_uc010ber.3_Silent_p.R975R|ATP8B4_uc010ufd.2_Silent_p.R912R|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Silent_p.R105R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1102					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGCCACCGGCGGATCTGG	0.502000													40	62					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649801	75649801	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:75649801A>C	uc004ecm.2	+	0	1756	c.1478A>C	c.(1477-1479)cAg>cCg	p.Q493P		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	493	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTATGGAACAGAACGTAGCT	0.493000													38	43					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26436415	26436415	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:26436415C>T	uc001isn.2	+	22	2922	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D	MYO3A_uc009xko.1_Silent_p.D854D|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	854	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCCTACTGACATTGTGCTAC	0.393000													34	75					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181453	128181453	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:128181453G>A	uc003ekk.1	-	2	2297	c.636C>T	c.(634-636)gaC>gaT	p.D212D	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.D212D	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	212					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGAGCTGCCCGTCTTCCTCCA	0.612000													90	100					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190606079	190606079	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:190606079G>C	uc002uqw.2	+	19	3800	c.3712G>C	c.(3712-3714)Gca>Cca	p.A1238P	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Missense_Mutation_p.A334P	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1238						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAATTTAATAGCAAGCCTGGC	0.338000													25	42					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128037026	128037026	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128037026G>A	uc011kol.1	-	7	976	c.870C>T	c.(868-870)atC>atT	p.I290I	IMPDH1_uc011kom.1_Silent_p.I285I|IMPDH1_uc003vmt.2_Silent_p.I265I|IMPDH1_uc003vmu.2_Silent_p.I375I|IMPDH1_uc003vmx.2_Silent_p.I298I|IMPDH1_uc003vmy.2_Silent_p.I306I|IMPDH1_uc003vmw.2_Silent_p.I365I|IMPDH1_uc011kon.1_Silent_p.I342I|IMPDH1_uc003vmv.2_Silent_p.I339I	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	290					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACTTCTGTTTGATGTAATGCA	0.562000													35	57					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10555851	10555851	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:10555851G>A	uc002gmq.2	-	3	322	c.234C>T	c.(232-234)taC>taT	p.Y78Y		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	78	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.Y78Y(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTTCATGGCGTACACATCCT	0.468000													45	51					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456084	16456084	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:16456084G>A	uc001aya.2	-	16	2825	c.2670_splice	c.e16-1	p.R890_splice		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGATAGACACGCtgcaacagg	0.652000													12	28					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67081776	67081776	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:67081776G>A	uc002jhw.1	-	30	4194	c.4019C>T	c.(4018-4020)aCt>aTt	p.T1340I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1340	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCTCCAGCAGTTGGCTTTGT	0.358000													13	15					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23767955	23767955	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:23767955G>T	uc001bha.2	-	8	883	c.759C>A	c.(757-759)gcC>gcA	p.A253A	ASAP3_uc010odz.1_Silent_p.A122A|ASAP3_uc010oea.1_Silent_p.A244A	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	253					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGTCCTCCTGGGCCTGATGGA	0.582000													9	20					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140243587	140243587	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:140243587G>A	uc004cmp.2	-	15	2001	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	EXD3_uc010ncf.1_Missense_Mutation_p.A282V|EXD3_uc004cmq.1_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	602					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGGTGCTGACGCTTTCTGCAG	0.667000													10	12					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169846643	169846643	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:169846643C>T	uc003fgl.2	-	7	1651	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	PHC3_uc010hws.1_Silent_p.Q527Q|PHC3_uc011bpq.1_Silent_p.Q486Q|PHC3_uc011bpr.1_Silent_p.Q453Q	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	527	Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAATTTCAGGCTGCACTTGTA	0.507000													69	74					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1017702	1017702	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1017702C>T	uc003gce.3	+	4	692	c.531C>T	c.(529-531)caC>caT	p.H177H	FGFRL1_uc003gcf.3_Silent_p.H177H|FGFRL1_uc003gcg.3_Silent_p.H177H|FGFRL1_uc010ibo.3_Silent_p.H177H	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	177	Ig-like C2-type 2.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAGCGGGCACCCTCGGCCCG	0.667000													6	8					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141334689	141334689	+	Missense_Mutation	SNP	G	G	T	rs439293		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:141334689G>T	uc003llx.3	-	0	3939	c.2728C>A	c.(2728-2730)Ctg>Atg	p.L910M		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	910					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGTCTCAGGGTTGCAGAG	0.632000													36	85					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283719	99283719	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:99283719C>T	uc003ppe.3	+	0	1140	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	324	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	p.L324L(2)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CATGTGCAAGCTGAAGCCTTT	0.587000													237	163					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:62296070A>G	uc001ntl.3	-	4	6119	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1940					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502000													9	361					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092544	132092544	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:132092544G>A	uc011mvd.1	-	1	503	c.87C>T	c.(85-87)cgC>cgT	p.R29R	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mve.1_Silent_p.R29R	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	29						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TGGAATGCCGGCGGGGACAGG	0.711000													12	13					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136595269	136595269	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136595269G>A	uc004cep.4	-	4	865	c.731C>T	c.(730-732)aCg>aTg	p.T244M	SARDH_uc004ceo.3_Missense_Mutation_p.T244M|SARDH_uc011mdo.2_Missense_Mutation_p.T76M|SARDH_uc011mdn.2_Missense_Mutation_p.T244M	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	244					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AAAATCATCCGTCCACACACG	0.587000													33	55					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840935	150840935	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:150840935A>C	uc004fev.4	+	13	2050	c.1718A>C	c.(1717-1719)aAg>aCg	p.K573T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	573						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					cagccactgaagcaTAATGTC	0.522000													31	39					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153129471	153129471	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153129471G>A	uc004fjb.3	-	25	3431	c.3323_splice	c.e25-1	p.G1108_splice	L1CAM_uc004fjc.3_Splice_Site_p.G1108_splice|L1CAM_uc010nuo.3_Splice_Site_p.G1103_splice	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1108	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCACGCGGCCTGAGGGTG	0.637000													23	37					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53162616	53162616	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53162616A>T	uc001sax.3	-	8	1852	c.1798T>A	c.(1798-1800)Tcc>Acc	p.S600T		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	600	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGAGCTGGAGCCCATTCCA	0.622000													25	47					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749858	142749858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:142749858C>T	uc011ksv.2	+	0	421	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGTGTGTCCAGCTGGCTGG	0.587000													6	90					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6302765	6302765	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6302765G>A	uc003giy.3	+	7	1409	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	WFS1_uc003gix.3_Missense_Mutation_p.V415I|WFS1_uc003giz.3_Missense_Mutation_p.V233I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	415			Missing (in WFS).		ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGTCTTCTTCGTCATCTTCTC	0.597000													78	114					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31382762	31382762	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:31382762T>C	uc002ebt.3	+	15	2016	c.1949T>C	c.(1948-1950)gTa>gCa	p.V650A	ITGAX_uc002ebu.1_Missense_Mutation_p.V650A	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	650					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGACCCTGGTACAGTCCAAC	0.582000													41	38					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625365	33625365	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:33625365C>A	uc001bxb.3	-	2	1323	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	229						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGGATCTGGGCTCCCTCCTGG	0.677000													42	55					0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114536597	114536597	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:114536597T>C	uc004eqa.3	+	1	166	c.132T>C	c.(130-132)gcT>gcC	p.A44A	LUZP4_uc004eqb.3_Missense_Mutation_p.L2P	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	44						nucleus		p.A44V(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGACAAATGCTGAAGAAGAAA	0.333000													52	94					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162514	96162514	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:96162514G>A	uc001kjr.2	+	0	329	c.144G>A	c.(142-144)ccG>ccA	p.P48P		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	48						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CTGTGGAGCCGCCggaggagg	0.726000													4	9					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555086	35555086	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35555086C>T	uc003zww.3	+	2	2299	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.R682C	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	682						cytosol		p.L681V(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACCAGTCCTTCGCTACAGCAA	0.577000													71	91					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698625	70698625	+	Missense_Mutation	SNP	C	C	A	rs139508787		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70698625C>A	uc002ezj.3	-	13	1607	c.1347G>T	c.(1345-1347)atG>atT	p.M449I		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA.	449					filopodium assembly|signal transduction		SH3 domain binding|actin binding|cytoskeletal adaptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GCGTCAGCACCATGGCCAGGT	0.667000													10	19					0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152784988	152784988	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152784988C>A	uc001faq.3	+	0	542	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	22	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agtgccctcccaagtgccTCA	0.617000													47	76					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896149	52896149	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:52896149T>G	uc002lga.3	-	18	2174	c.2114A>C	c.(2113-2115)aAg>aCg	p.K705T	TCF4_uc021ukg.1_Missense_Mutation_p.K439T|TCF4_uc021ukh.1_Missense_Mutation_p.K439T|TCF4_uc002lfw.4_Missense_Mutation_p.K443T|TCF4_uc010xdu.1_Missense_Mutation_p.K469T|TCF4_uc010xdv.1_Missense_Mutation_p.K469T|TCF4_uc021uki.1_Missense_Mutation_p.K528T|TCF4_uc002lfx.2_Missense_Mutation_p.K532T|TCF4_uc010xdw.1_Missense_Mutation_p.K469T|TCF4_uc002lfy.2_Missense_Mutation_p.K557T|TCF4_uc010xdx.1_Missense_Mutation_p.K575T|TCF4_uc021ukj.1_Missense_Mutation_p.K539T|TCF4_uc021ukk.1_Missense_Mutation_p.K543T|TCF4_uc021ukl.1_Missense_Mutation_p.K596T|TCF4_uc002lfz.2_Missense_Mutation_p.K599T|TCF4_uc010dph.1_Missense_Mutation_p.K603T|TCF4_uc010dpi.3_Missense_Mutation_p.K609T|TCF4_uc010xdy.1_Missense_Mutation_p.K579T	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	599					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGTCTGGGGCTTGTCACTCTT	0.617000													35	63					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220073024	220073024	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220073024G>A	uc002vka.3	+	4	653	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	ZFAND2B_uc010zkt.2_Missense_Mutation_p.V161I|ZFAND2B_uc010fwd.1_Missense_Mutation_p.V161I|ZFAND2B_uc002vjz.1_Missense_Mutation_p.V161I|ZFAND2B_uc002vkb.1_Missense_Mutation_p.V52I	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	161						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACAAGCACTGTCCCCAGCCC	0.547000													22	21					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76889125	76889125	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:76889125T>C	uc004ecp.4	-	17	5117	c.4885A>G	c.(4885-4887)Aat>Gat	p.N1629D	ATRX_uc004ecq.4_Missense_Mutation_p.N1591D|ATRX_uc004eco.4_Missense_Mutation_p.N1414D	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1629	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAGCAGTATTAAGAGGACAA	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						26	41					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681537	44681537	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:44681537T>C	uc003bet.2	-	3	503	c.370A>G	c.(370-372)Aac>Gac	p.N124D		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	124						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ATGTCGTAGTTCATTGCCGAG	0.557000													26	266					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49421827	49421827	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49421827C>T	uc001rta.4	-	45	14480	c.14480G>A	c.(14479-14481)gGc>gAc	p.G4827D		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4827					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R4827*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGCTCAGTGCCTGCCCGGGC	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			21	27					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	89985820	89985820	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89985820A>G	uc002fpf.2	+	0	562	c.154A>G	c.(154-156)Agc>Ggc	p.S52G	TUBB3_uc002fpe.4_Missense_Mutation_p.S52G|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	0					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGGGCTGGTGAGCTTGGTGGA	0.642000													50	71					0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056503	151056503	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:151056503C>T	uc003eyw.1	-	1	347	c.131G>A	c.(130-132)gGc>gAc	p.G44D	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Missense_Mutation_p.G44D|P2RY12_uc003eyx.1_Missense_Mutation_p.G44D|P2RY12_uc021xga.1_Missense_Mutation_p.G44D	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	44					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CATCGCCAGGCCATTTGTGAT	0.403000													19	36					0	0	1	0	0
WHSC2	7469	broad.mit.edu	37	4	1988038	1988038	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1988038C>T	uc003gem.3	-	4	1002	c.759G>A	c.(757-759)ccG>ccA	p.P253P	WHSC2_uc003gek.3_5'UTR|WHSC2_uc003gel.3_Silent_p.P167P|WHSC2_uc003gen.3_Silent_p.P107P	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	242					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			TCCTGGAAGGCGGGATGGGGG	0.697000													10	7					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528916	76528916	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:76528916C>T	uc002fex.1	+	12	2338	c.2199C>T	c.(2197-2199)tgC>tgT	p.C733C	CNTNAP4_uc002feu.1_Silent_p.C729C|CNTNAP4_uc002fev.1_Silent_p.C594C|CNTNAP4_uc010chb.1_Silent_p.C657C|CNTNAP4_uc002few.2_Silent_p.C705C	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	730	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGGGAAACTGCATTGATTCTC	0.378000													49	85					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208727	140208727	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140208727G>A	uc003lho.2	+	0	1078	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.A351T|PCDHAC2_uc011dab.2_Missense_Mutation_p.A351T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	366	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGAGATAGCACTGACTTC	0.488000													91	80					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568424	45568424	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:45568424C>A	uc001rom.2	-	3	261	c.-276_splice	c.e3-1							Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GACAATATTCCCCTACAGAGA	0.488000													23	22					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900965	86900965	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:86900965C>T	uc010mpz.3	-	12	1488	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	SLC28A3_uc011lsy.2_Missense_Mutation_p.A379T|SLC28A3_uc004anu.2_Missense_Mutation_p.A448T	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	448					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCGATGTTGGCCACCAGGGAG	0.473000													16	19					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985067	67985067	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67985067C>T	uc010vkj.1	-	7	1319	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	SLC12A4_uc010ceu.2_Missense_Mutation_p.G419S|SLC12A4_uc010vkh.1_Missense_Mutation_p.G394S|SLC12A4_uc002euz.2_Missense_Mutation_p.G425S|SLC12A4_uc010vki.1_Missense_Mutation_p.G425S|SLC12A4_uc002eva.2_Missense_Mutation_p.G425S|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	425					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGAAGATGCCGACCAGCACG	0.622000													72	108					0	0	1	0	0
TMEM106A	113277	broad.mit.edu	37	17	41369782	41369782	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:41369782G>A	uc002idn.1	+	8	988	c.751G>A	c.(751-753)Gca>Aca	p.A251T	TMEM106A_uc010why.1_Missense_Mutation_p.A203T|TMEM106A_uc010cze.1_Missense_Mutation_p.A251T|TMEM106A_uc010whz.1_Missense_Mutation_p.A204T	NM_145041	NP_659478	Q96A25	T106A_HUMAN	Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.	251						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CCGAGGAAACGCATCTGTGCC	0.577000													127	183					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60718781	60718781	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:60718781G>A	uc001nqn.2	-	0	477	c.243C>T	c.(241-243)ggC>ggT	p.G81G	SLC15A3_uc001nqo.2_Silent_p.G81G	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	81					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGTAGGAGGCGCCCAGGAATA	0.701000													4	3					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135287507	135287507	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135287507C>G	uc003qez.2	-	16	2210	c.2003G>C	c.(2002-2004)cGt>cCt	p.R668P	HBS1L_uc003qey.2_Missense_Mutation_p.R504P|HBS1L_uc011ecy.1_Missense_Mutation_p.R392P|HBS1L_uc011ecz.1_Missense_Mutation_p.R504P|HBS1L_uc011eda.1_Missense_Mutation_p.R626P	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	668					signal transduction		GTP binding|GTPase activity|translation elongation factor activity	p.R668P(2)|p.R668C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCACCGTAACGTAGCATGAA	0.378000													45	126					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932984	153932984	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153932984G>T	uc001fdl.3	-	4	1031	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.L189I|SLC39A1_uc001fdj.3_Missense_Mutation_p.L189I|SLC39A1_uc001fdk.3_Missense_Mutation_p.L189I|SLC39A1_uc010pee.2_Missense_Mutation_p.L87I	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	189						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		ACGGAGTGGAGGGCCAGGGAG	0.677000													31	33					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850389	58850389	+	Silent	SNP	G	G	A	rs140941763	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58850389G>A	uc002qsc.2	+	2	1320	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	391					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCTTCAGCCAGAGCACGCACC	0.637000													46	64					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546949	37546949	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:37546949T>C	uc002xje.3	+	10	1533	c.1344T>C	c.(1342-1344)caT>caC	p.H448H	PPP1R16B_uc010ggc.3_Silent_p.H406H	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	448					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGAAGGTGCATGAGGTGCCTG	0.627000													11	349					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651194	38651194	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:38651194T>C	uc010qex.1	+	2	341	c.266T>C	c.(265-267)aTa>aCa	p.I89T	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.I87T					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TTAGACCGTATATATCTAAAT	0.358000													23	49					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643557	88643557	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:88643557G>A	uc010voz.2	+	1	226	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ZC3H18_uc021tmm.1_Missense_Mutation_p.R9Q|ZC3H18_uc010voy.1_Missense_Mutation_p.R9Q|ZC3H18_uc002fky.3_Missense_Mutation_p.R9Q|ZC3H18_uc010vpa.1_Missense_Mutation_p.R9Q	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	9						nucleus	nucleic acid binding|zinc ion binding	p.R9L(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCCTGAACGGGATCCTCAC	0.547000													25	44					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53543382	53543382	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:53543382C>G	uc001cuv.3	+	6	1076	c.908C>G	c.(907-909)cCg>cGg	p.P303R	PODN_uc010onr.2_Missense_Mutation_p.P284R|PODN_uc010ons.2_Missense_Mutation_p.P161R|PODN_uc001cuw.3_Missense_Mutation_p.P284R	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	255					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGATCCCCCCGGGGGCCTTC	0.612000													59	142					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27423872	27423872	+	Silent	SNP	G	G	A	rs140378947		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:27423872G>A	uc010eyv.1	-	16	2080	c.1758C>T	c.(1756-1758)taC>taT	p.Y586Y	SLC5A6_uc002rjd.3_Silent_p.Y586Y	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	586					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTACCTGGCCGTAGCTCCTGC	0.592000													4	23					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124418011	124418011	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124418011T>C	uc001uft.4	+	75	13101	c.13076T>C	c.(13075-13077)gTg>gCg	p.V4359A	DNAH10_uc001ufu.4_Missense_Mutation_p.V272A	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4359					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCACACAAGTGACCAAGTTC	0.592000													53	52					0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75550867	75550867	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75550867A>G	uc001jvj.3	+	7	1331	c.1076A>G	c.(1075-1077)aAg>aGg	p.K359R	KIAA0913_uc001jve.3_Missense_Mutation_p.K359R|KIAA0913_uc009xrl.3_Missense_Mutation_p.K359R|KIAA0913_uc001jvf.3_Missense_Mutation_p.K359R|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	359							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GAGATGTTCAAGCGGAGGGAC	0.607000													23	65					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594934	31594934	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31594934C>T	uc003nvb.4	+	10	1498	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.R417W	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	417	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCACCTCACCGGGGCCCCGC	0.652000													41	30					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114543240	114543240	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114543240G>A	uc004bfr.3	-	1	170	c.35C>T	c.(34-36)gCa>gTa	p.A12V	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.A76V	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	12										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAAACTTGCTTTCCATTG	0.353000													31	37					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230907846	230907846	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:230907846G>A	uc001htz.1	+	7	988	c.875_splice	c.e7+1	p.S292_splice	CAPN9_uc009xfg.1_Splice_Site_p.S229_splice|CAPN9_uc001hua.1_Splice_Site_p.R292_splice	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	292	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAGCGACAGGTCAGTCACCC	0.597000													37	57					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73577560	73577560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:73577560C>T	uc010ttu.2	+	15	1990	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	RBM25_uc001xno.3_Missense_Mutation_p.R572C|RBM25_uc001xnp.3_Missense_Mutation_p.R367C	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	572	Glu-rich.|Necessary for nuclear speckle localization.			RRRQ -> EAQE (in Ref. 8; AAC41999).	RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GGCTGAGAGGCGCAGGCAGCC	0.388000													7	18					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18787305	18787305	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:18787305G>A	uc001ipr.2	+	3	415	c.355G>A	c.(355-357)Gtt>Att	p.V119I	CACNB2_uc001ipt.2_Missense_Mutation_p.V119I|CACNB2_uc009xjz.1_Missense_Mutation_p.V119I|CACNB2_uc001ips.2_Missense_Mutation_p.V119I|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.V91I|CACNB2_uc001ipv.3_Missense_Mutation_p.V91I|CACNB2_uc009xka.2_Missense_Mutation_p.V91I|CACNB2_uc001ipw.2_Missense_Mutation_p.V64I|CACNB2_uc001ipx.2_Missense_Mutation_p.V64I|CACNB2_uc009xkb.1_Missense_Mutation_p.V65I|CACNB2_uc010qcm.2_Missense_Mutation_p.V65I|CACNB2_uc001ipz.2_Missense_Mutation_p.V65I|CACNB2_uc001ipy.2_Missense_Mutation_p.V65I|CACNB2_uc010qcn.2_Missense_Mutation_p.V71I|CACNB2_uc010qco.1_Missense_Mutation_p.V71I|CACNB2_uc001iqa.2_Missense_Mutation_p.V71I	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	119	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.P119S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCATTTGCGGTTCGGACAAA	0.448000													20	32					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058095	79058095	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:79058095G>A	uc002bej.4	-	18	4369	c.4158C>T	c.(4156-4158)caC>caT	p.H1386H	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1386					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1385N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGACTCTGTGGCTGTTGG	0.682000													42	61					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337042	57337042	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:57337042A>G	uc004dvc.3	+	2	441	c.292A>G	c.(292-294)Aag>Gag	p.K98E		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	98				K -> R (in Ref. 1; BAB71007).		integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGAAGCGATGAAGGAGGCTCA	0.393000										HNSCC(52;0.14)			20	30					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196922833	196922833	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196922833G>A	uc002utj.4	-	1	124	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	8	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCTGGCCGATTTATCCTG	0.313000													31	33					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20864412	20864412	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:20864412T>C	uc010sii.2	+	5	852	c.497T>C	c.(496-498)gTt>gCt	p.V166A	SLCO1C1_uc010sij.2_Missense_Mutation_p.V166A|SLCO1C1_uc009zip.3_5'UTR|SLCO1C1_uc001rei.3_Missense_Mutation_p.V166A|SLCO1C1_uc010sik.2_Missense_Mutation_p.V48A	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	166					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCAGTTTCAGTTATGGAAAAA	0.343000													24	40					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139221883	139221883	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139221883C>A	uc003leu.1	+	14	2345	c.2140C>A	c.(2140-2142)Ctc>Atc	p.L714I		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	714					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATATCCACCTCCTGGCTAT	0.473000													21	52					0	0	1	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85015539	85015539	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85015539C>A	uc010voi.1	-	4	841	c.488G>T	c.(487-489)gGg>gTg	p.G163V	ZDHHC7_uc002fiq.2_Missense_Mutation_p.G126V|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	126						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						GATGACTTCCCCGGGCTTCAG	0.527000													87	100					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17108016	17108016	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17108016C>T	uc002nfb.3	-	10	1173	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	334						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGGAGTCATCGAACGCGACC	0.642000													17	25					0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52451181	52451181	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52451181G>A	uc001rzs.3	+	6	1726	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	NR4A1_uc010sno.2_Silent_p.V482V|NR4A1_uc001rzt.3_Silent_p.V469V|NR4A1_uc009zmc.3_Missense_Mutation_p.C83Y	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	469					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAGGCCTGGTGCTACACCGGC	0.602000													30	49					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531877	150531877	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:150531877C>T	uc009wlw.3	+	16	3105	c.2947C>T	c.(2947-2949)Cct>Tct	p.P983S	ADAMTSL4_uc001eux.3_Missense_Mutation_p.P960S|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.P921S|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.P123S	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	960	TSP type-1 6.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCCAGGCCCCCTGCCCTGCA	0.617000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	53					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54948702	54948702	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:54948702G>T	uc004dtq.3	+	1	130	c.23G>T	c.(22-24)gGa>gTa	p.G8V	TRO_uc011moj.1_Intron|TRO_uc004dts.3_Missense_Mutation_p.G8V|TRO_uc004dtr.3_Missense_Mutation_p.G8V|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Missense_Mutation_p.G8V|TRO_uc011mok.2_Intron|TRO_uc004dtw.3_Missense_Mutation_p.G8V|TRO_uc004dtx.3_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	8					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AATGACTACGGATATAGGGTG	0.532000													8	11					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14217687	14217687	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:14217687G>A	uc003ssz.3	-	22	2402	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	DGKB_uc011jxt.2_Missense_Mutation_p.R720W|DGKB_uc003sta.3_Missense_Mutation_p.R739W|DGKB_uc011jxu.2_Missense_Mutation_p.R738W	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	739					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R738R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGAGCCAGCCGCCGGCCAGCA	0.507000													39	61					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237048	29237048	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:29237048C>T	uc001wqe.3	+	0	762	c.563C>T	c.(562-564)gCg>gTg	p.A188V		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	188					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCTACAACGCGCTCATCATG	0.612000													16	29					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	1976422	1976422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:1976422G>A	uc003slh.1	-	16	1974	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	MAD1L1_uc003sle.1_Nonsense_Mutation_p.R299*|MAD1L1_uc003slf.1_Nonsense_Mutation_p.R570*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.R570*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.R570*|MAD1L1_uc003sli.1_Nonsense_Mutation_p.R478*|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.R523*|MAD1L1_uc010ksj.3_Nonsense_Mutation_p.R570*|MAD1L1_uc003sld.1_Nonsense_Mutation_p.R26*	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	570					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCGCGCAGTCGCTCGCACTCC	0.692000													8	11					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132306088	132306088	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:132306088G>A	uc010sck.2	-	5	879	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	OPCML_uc001qgu.3_Missense_Mutation_p.R270C|OPCML_uc001qgs.3_Missense_Mutation_p.R277C|OPCML_uc001qgt.3_Missense_Mutation_p.R276C|OPCML_uc010scl.2_Missense_Mutation_p.R236C	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	277	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTGGACATGCGGCCTTTGTTT	0.463000													29	62					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273254	139273254	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139273254G>T	uc004chh.3	-	20	3034	c.3025C>A	c.(3025-3027)Ctg>Atg	p.L1009M		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1009	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCGGGGCCCAGGGCAGGGGCT	0.682000													11	21					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187159508	187159508	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:187159508T>C	uc003iyy.3	+	5	658	c.587T>C	c.(586-588)cTt>cCt	p.L196P	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.L158P	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	196					Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCCTGTGCCCTTTCAGAAATT	0.498000													32	45					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12246317	12246317	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:12246317C>T	uc001mjz.3	+	12	1926	c.1638C>T	c.(1636-1638)cgC>cgT	p.R546R	MICAL2_uc010rch.1_Silent_p.R546R|MICAL2_uc001mka.3_Silent_p.R546R|MICAL2_uc010rci.2_Silent_p.R546R|MICAL2_uc001mkb.3_Silent_p.R546R|MICAL2_uc001mkc.3_Silent_p.R546R|MICAL2_uc001mkd.3_Silent_p.R375R|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	546	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCCTGGCGCAGTGGGTTGG	0.637000													32	23					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141295	20141295	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:20141295G>A	uc001bcr.3	-	0	477	c.300C>T	c.(298-300)cgC>cgT	p.R100R		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	100						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCATGGTCGCGCAGGCTGC	0.667000													33	53					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176004718	176004718	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176004718G>A	uc021yie.1	+	13	1705	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	CDHR2_uc003mem.2_Silent_p.R477R|CDHR2_uc003men.1_Silent_p.R477R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	477	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGACCACAGGCCCACGTTTC	0.607000													27	59					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119791	3119791	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:3119791C>T	uc010vrc.2	+	0	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293W(4)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTGAGAAATCGGGACATGAA	0.468000													56	92					0	0	1	0	0
RASSF7	8045	broad.mit.edu	37	11	563280	563280	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:563280C>A	uc001lqc.3	+	3	949	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	C11orf35_uc001lpx.3_5'Flank|RASSF7_uc001lqb.3_Missense_Mutation_p.P305Q|RASSF7_uc001lqd.3_Missense_Mutation_p.P305Q	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 (RASSF7), transcript variant 1, mRNA.	305	Pro-rich.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCTGCCACCGCCCCCACGG	0.682000													7	14					0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241517019	241517019	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241517019T>C	uc002vzi.3	+	10	1888	c.1195T>C	c.(1195-1197)Tca>Cca	p.S399P	RNPEPL1_uc002vzj.3_Missense_Mutation_p.S47P	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	399					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCTGCAGATGTCACGCATGTA	0.697000													26	31					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63995969	63995969	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:63995969G>A	uc001jlw.3	-	5	639	c.542C>T	c.(541-543)aCa>aTa	p.T181I	RTKN2_uc009xpf.1_5'UTR	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	181					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGATTCTTCTGTACAGCAACT	0.348000													18	41					0	0	1	0	0
FXC1	26515	broad.mit.edu	37	11	6503065	6503065	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6503065G>T	uc001mdn.4	+	1	188	c.118G>T	c.(118-120)Gct>Tct	p.A40S	ARFIP2_uc001mdk.3_5'Flank|ARFIP2_uc010ran.2_5'Flank|ARFIP2_uc010ral.2_5'Flank|ARFIP2_uc010ram.2_5'Flank|ARFIP2_uc009yfe.2_5'Flank|FXC1_uc001mdo.4_Intron	NM_012192	NP_036324	Q9Y5J6	TIM9B_HUMAN	Homo sapiens fracture callus 1 homolog (rat) (FXC1), nuclear gene encoding mitochondrial protein, mRNA.	40					cell-matrix adhesion|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	metal ion binding						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.26e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCACCACCGAGCTCTGGACGC	0.572000													29	42					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383002	85383002	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:85383002A>G	uc002ble.3	+	4	1265	c.1098A>G	c.(1096-1098)tcA>tcG	p.S366S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	366	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTCCTGCTCAGGGGTCCTGG	0.607000													44	64					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25990452	25990452	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25990452T>C	uc002rgs.2	-	7	996	c.775_splice	c.e7+1	p.R259_splice	ASXL2_uc002rgt.1_Splice_Site|U2_uc021ves.1_5'Flank	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.R259*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAACTTACTGGTATGGAGT	0.373000													15	29					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100896035	100896035	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:100896035G>A	uc003pqj.4	-	6	1304	c.837C>T	c.(835-837)tgC>tgT	p.C279C	SIM1_uc021zdg.1_Silent_p.C279C|SIM1_uc010kcu.3_Silent_p.C279C	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	279	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R278H(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGGTGCGCGCAGCGCAGGT	0.622000													12	28					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50381767	50381767	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50381767C>A	uc002pqo.3	+	2	432	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	AKT1S1_uc002pql.4_5'Flank|AKT1S1_uc002pqn.4_5'Flank|AKT1S1_uc002pqm.4_5'Flank|TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.L12I|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'Flank	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	45						intracellular	Rab GTPase activator activity	p.L45_L46insL(1)		NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAATGACGTCCTCCTGCACTG	0.537000													36	36					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139836499	139836499	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139836499G>A	uc004cjx.3	-	6	1280	c.1096_splice	c.e6+1	p.G366_splice	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Splice_Site_p.G114_splice|FBXW5_uc004cjz.3_Intron	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	366							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGGTGTACCGATCTGGTGTG	0.662000													8	18					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105957717	105957717	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105957717G>A	uc001kxw.3	-	8	1291	c.1175C>T	c.(1174-1176)gCa>gTa	p.A392V	WDR96_uc001kxx.4_Missense_Mutation_p.A393V|WDR96_uc001kxy.1_Missense_Mutation_p.A393V	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	392										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGTCAATTGCCTGAAATTT	0.343000													38	27					0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66298469	66298469	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66298469G>A	uc001oii.1	+	14	1767	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A	BBS1_uc001oil.1_Silent_p.A397A|BBS1_uc010rpg.1_Silent_p.A429A|BBS1_uc001oij.1_Silent_p.A526A|BBS1_uc001oik.1_Silent_p.A450A|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Silent_p.A194A	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	526					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ACAACGAGGCGCTCTATTCCC	0.587000									Bardet-Biedl syndrome				29	43					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17126304	17126304	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:17126304T>C	uc001ioo.3	-	16	2319	c.2267A>G	c.(2266-2268)cAa>cGa	p.Q756R		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	756	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTCTGGCATTGCAGCTCCAC	0.443000													38	41					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26192151	26192151	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:26192151C>T	uc003sxq.3	+	0	305	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	11					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGTCGGCCGGCGGCGGCCTCC	0.756000													13	17					0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99439573	99439573	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:99439573G>A	uc002szf.1	-	6	1457	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	388	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CACCTCCTCCGCCTTGTCCGT	0.751000													15	14					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111423966	111423966	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:111423966G>A	uc003vfy.3	-	34	3848	c.3579C>T	c.(3577-3579)ggC>ggT	p.G1193G	DOCK4_uc011kml.2_Silent_p.G29G|DOCK4_uc011kmm.2_Silent_p.G55G|DOCK4_uc003vfw.3_Silent_p.G598G|DOCK4_uc003vfx.3_Silent_p.G1148G	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1148	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTAATGAAACGCCACTTTCCC	0.408000													6	7					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243577	47243577	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:47243577G>T	uc002ion.2	+	8	1295	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	B4GALNT2_uc010wlt.1_Missense_Mutation_p.E326D|B4GALNT2_uc010wlu.1_Missense_Mutation_p.E352D	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	412					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAAGATTGAGGTGCTGGTGG	0.502000													31	38					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078368	179078368	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:179078368C>T	uc001gmj.4	-	11	2321	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	ABL2_uc010pnf.2_Silent_p.Q678Q|ABL2_uc010png.2_Silent_p.Q657Q|ABL2_uc010pnh.2_Silent_p.Q657Q|ABL2_uc001gmg.4_Silent_p.Q663Q|ABL2_uc001gmi.4_Silent_p.Q663Q|ABL2_uc010pne.2_Silent_p.Q642Q	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	678					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTTATGGGGCTGATTCTCCA	0.512000			T	ETV6	AML								86	179					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594122	30594122	+	RNA	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30594122A>G	uc002dyu.3	+	1		c.429A>G			ZNF785_uc002dyv.2_Missense_Mutation_p.L311P|ZNF785_uc002dyw.2_Missense_Mutation_p.L326P|ZNF785_uc010vez.2_Missense_Mutation_p.L291P			A8K8V0	ZN785_HUMAN	Homo sapiens cDNA clone IMAGE:4906981, partial cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ACTGAGGAGGAGGGAAGAATA	0.647000													42	61					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126311887	126311887	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:126311887C>A	uc001lhv.1	-	4	1716	c.1193G>T	c.(1192-1194)cGg>cTg	p.R398L	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	398										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCCGCGGTCCCGCCAGGCTGC	0.672000													65	42					0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125453541	125453541	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:125453541C>T	uc009zbl.3	+	10	1231	c.989C>T	c.(988-990)cCg>cTg	p.P330L	EI24_uc001qca.3_Missense_Mutation_p.P328L|EI24_uc001qcb.3_3'UTR|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Missense_Mutation_p.P316L|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	329					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCACCGCATCCGTCGCCTGCC	0.547000													14	9					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15572069	15572069	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15572069C>A	uc002nbe.2	-	3	590	c.504G>T	c.(502-504)gaG>gaT	p.E168D		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	168					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.S167S(1)|p.E168*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGATGCTGCCCTCGGAGCTAG	0.627000													13	21					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196730857	196730857	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196730857T>C	uc003fxk.4	-	14	2166	c.2052A>G	c.(2050-2052)ggA>ggG	p.G684G	MFI2-AS1_uc003fxj.1_Intron	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	684	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGGTTTTCTCTCCGACAGGCA	0.607000													184	242					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483294	12483294	+	Silent	SNP	C	C	T	rs146158847	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:12483294C>T	uc001rai.1	-	3	1221	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_uc010shm.1_Silent_p.P255P|MANSC1_uc001raj.1_Silent_p.P287P	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	321	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458000													44	87					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57918264	57918264	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:57918264C>T	uc002emt.2	-	32	3625	c.3560G>A	c.(3559-3561)cGg>cAg	p.R1187Q	CNGB1_uc010cdh.2_Missense_Mutation_p.R1181Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1187					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGGGGCGTCCGGGGCGCGGG	0.741000													19	35					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	rs149531312	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382167A>T	uc003yqh.4	-	6	933	c.825T>A	c.(823-825)gaT>gaA	p.D275E	ATAD2_uc011lii.2_Missense_Mutation_p.D66E|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D275E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	275	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.378000													17	18					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898136	104898136	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:104898136A>G	uc003yls.3	+	1	884	c.643A>G	c.(643-645)Agg>Ggg	p.R215G	RIMS2_uc003ylp.3_Missense_Mutation_p.R437G|RIMS2_uc003ylw.2_Missense_Mutation_p.R245G|RIMS2_uc003ylq.3_Missense_Mutation_p.R245G|RIMS2_uc003ylr.3_Missense_Mutation_p.R245G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	468					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCTACCCCCAGGAGGAGTCC	0.468000										HNSCC(12;0.0054)			12	110					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179107816	179107816	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:179107816C>T	uc003fjt.3	+	15	2128	c.2121C>T	c.(2119-2121)cgC>cgT	p.R707R	MFN1_uc003fjs.3_Silent_p.R679R|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Silent_p.R421R	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	679					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTTTGCTCGCCTGTGCCAAC	0.299000													10	17					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100367047	100367047	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:100367047T>C	uc004axn.3	-	8	1702	c.1214A>G	c.(1213-1215)gAa>gGa	p.E405G	TSTD2_uc004axo.3_Missense_Mutation_p.E179G|TSTD2_uc004axp.1_Missense_Mutation_p.E179G	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	405										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGCATAGCGTTCATCAAAAAC	0.468000													49	66					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35424067	35424067	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:35424067C>T	uc003oko.1	+	1	977	c.792C>T	c.(790-792)gaC>gaT	p.D264D	FANCE_uc010jvw.1_Silent_p.D264D	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	264	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CTGGCGAGGACGGTTCGAATC	0.498000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				94	222					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:93106930G>A	uc003umv.2	-	5	610	c.310C>T	c.(310-312)Ccg>Tcg	p.P104S	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P86S|CALCR_uc003umw.2_Missense_Mutation_p.P86S	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	86					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.D103V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418000													25	32					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680506	4680506	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:4680506T>G	uc021wae.1	+	0	640	c.640T>G	c.(640-642)Tgt>Ggt	p.C214G	PRNP_uc002wkt.1_Missense_Mutation_p.C184G|PRNP_uc002wku.3_Missense_Mutation_p.C214G|PRNP_uc002wkv.3_Missense_Mutation_p.C214G|PRNP_uc002wkw.3_Missense_Mutation_p.C214G|PRNP_uc002wkx.3_Missense_Mutation_p.C214G|PRNP_uc002wky.3_Missense_Mutation_p.C214G|PRNP_uc010gbe.1_Missense_Mutation_p.C214G	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	214	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGAGCAGATGTGTATCACCCA	0.522000													67	36					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856557	47856557	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47856557C>A	uc010xyn.2	+	1	619	c.270C>A	c.(268-270)atC>atA	p.I90I	DHX34_uc010elc.1_Silent_p.I90I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	90						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCACAGCATCCCAGCGCTGG	0.587000													54	105					0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112621993	112621993	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:112621993C>T	uc021reb.1	-	60	10771	c.10375G>A	c.(10375-10377)Gag>Aag	p.E3459K		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GCTGTTACCTCCACGACTGCG	0.527000													121	165					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36574054	36574054	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36574054A>G	uc002odd.2	+	10	1552	c.1461A>G	c.(1459-1461)acA>acG	p.T487T	WDR62_uc002odc.2_Silent_p.T487T	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	487					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAATGGGACACCCATGGACG	0.602000													4	14					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141286	21141286	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141286C>T	uc003zol.1	-	0	859	c.284G>A	c.(283-285)cGc>cAc	p.R95H		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	95			R -> S (in dbSNP:rs2230055).		cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGAGGAGCGCTCTGTGTG	0.557000													42	64					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:7810767G>A	uc002mht.2	-	3	452	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105W|CD209_uc002mhr.2_Missense_Mutation_p.R105W|CD209_uc002mhs.2_Missense_Mutation_p.R105W|CD209_uc002mhu.2_Missense_Mutation_p.R129W|CD209_uc010dvq.2_Missense_Mutation_p.R129W|CD209_uc002mhq.2_Missense_Mutation_p.R129W|CD209_uc002mhv.2_Missense_Mutation_p.R105W|CD209_uc002mhx.2_Missense_Mutation_p.R85W|CD209_uc002mhw.2_Missense_Mutation_p.R85W|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(6)|p.T128T(1)|p.R129R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													6	220					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113729502	113729502	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:113729502C>T	uc001vsu.3	+	11	1479	c.1479_splice	c.e11+1	p.T493_splice	MCF2L_uc001vsq.3_Splice_Site_p.T493_splice|MCF2L_uc010tjr.2_Splice_Site_p.T436_splice|MCF2L_uc001vsr.3_Splice_Site_p.T440_splice|MCF2L_uc001vss.4_Splice_Site_p.T434_splice|MCF2L_uc010tjs.2_Splice_Site_p.T434_splice|MCF2L_uc001vst.1_Splice_Site_p.T398_splice	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	466					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCCTGGAGACGGTAGGCCGA	0.687000													11	14					0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2522735	2522735	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2522735G>A	uc002cqj.3	+	1	1165	c.962G>A	c.(961-963)cGc>cAc	p.R321H	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	321	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CGCCGCTGCCGCTTCAACATG	0.692000													61	85					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134252969	134252969	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:134252969C>T	uc011kpr.2	+	3	509	c.210C>T	c.(208-210)caC>caT	p.H70H		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	70							oxidoreductase activity	p.R70L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AATATCGCCACATTGACTGTG	0.453000													40	52					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:7810766C>T	uc002mht.2	-	3	453	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(2)|p.T128T(1)|p.R129R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567000													5	220					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877512	27877512	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:27877512C>G	uc021ojw.1	-	0	1115	c.1115G>C	c.(1114-1116)gGc>gCc	p.G372A	AHDC1_uc009vsy.3_Missense_Mutation_p.G372A|AHDC1_uc009vsz.1_Missense_Mutation_p.G372A|AHDC1_uc001boh.1_Missense_Mutation_p.G245A	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	372	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCGGGGGGGCCGTGCGGTGA	0.697000													11	15					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078753	10078753	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10078753A>G	uc002mmq.1	-	59	4403	c.4317T>C	c.(4315-4317)ggT>ggC	p.G1439G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1439	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P1438S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACCAGGGGGACCCTAGGAAA	0.582000													37	52					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46724534	46724534	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46724534C>T	uc001nde.2	+	4	674	c.393_splice	c.e4-1	p.S131_splice	ARHGAP1_uc001ndd.3_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.2_Splice_Site_p.S123_splice	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTTTGCAGCTTGGTACAAC	0.577000													30	39					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833282	41833282	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41833282C>T	uc003azz.1	-	1	775	c.68G>A	c.(67-69)cGc>cAc	p.R23H	TOB2_uc021wqf.1_Missense_Mutation_p.R23H	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	23					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTCTGCCCGGCGCCGGGGCAG	0.542000													39	38					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471558	128471558	+	Silent	SNP	C	C	T	rs151283651		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:128471558C>T	uc002tpg.2	-	17	3106	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	969					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTCTGACATCGGGCCCATGT	0.612000													14	39					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48047159	48047159	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48047159T>C	uc004diz.1	-	7	651	c.598A>G	c.(598-600)Agg>Ggg	p.R200G	SSX5_uc004dja.1_Missense_Mutation_p.R159G	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TGTTTCCCCCTTTTGGGTCCT	0.478000													129	202					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335435	20335435	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20335435C>T	uc002dgv.3	-	2	321	c.238G>A	c.(238-240)Gca>Aca	p.A80T	GP2_uc002dgw.3_Missense_Mutation_p.A80T|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	80						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGGACCCTGCTGAGTTCTCT	0.572000													37	45					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575690	49575690	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:49575690C>T	uc002xvy.1	+	0	328	c.311C>T	c.(310-312)gCc>gTc	p.A104V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	104					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TTGGCAGCGGCCGGCGTGGGC	0.682000													5	186					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9763352	9763352	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:9763352A>G	uc002gmd.1	+	6	859	c.859A>G	c.(859-861)Acg>Gcg	p.T287A		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	287					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTACCTCCACACGCTGCTGGA	0.572000													11	25					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58476445	58476445	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:58476445A>T	uc003jsa.2	-	4	956	c.784T>A	c.(784-786)Tcc>Acc	p.S262T	PDE4D_uc003jrx.2_Missense_Mutation_p.S126T|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Missense_Mutation_p.S198T|PDE4D_uc003jsb.3_Missense_Mutation_p.S201T|PDE4D_uc003jsc.3_Missense_Mutation_p.S198T|PDE4D_uc003jrv.2_Missense_Mutation_p.S132T|PDE4D_uc003jrw.2_Missense_Mutation_p.S140T|PDE4D_uc010iwi.1_Missense_Mutation_p.S94T	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	262					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TTGTTGATGGATGGTTGGTTG	0.398000													11	19					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63525089	63525089	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63525089T>G	uc002lkb.3	+	7	1699	c.1273T>G	c.(1273-1275)Ttc>Gtc	p.F425V	CDH7_uc002ljz.3_Missense_Mutation_p.F425V|CDH7_uc002lka.3_Missense_Mutation_p.F425V	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	425	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGAGATACTTCAATATTGA	0.388000													5	109					0	0	1	0	0
SCRN3	79634	broad.mit.edu	37	2	175292598	175292598	+	Missense_Mutation	SNP	A	A	G	rs76634317		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:175292598A>G	uc002uiq.3	+	7	1348	c.1250A>G	c.(1249-1251)aAt>aGt	p.N417S	SCRN3_uc010zen.2_Missense_Mutation_p.N410S|SCRN3_uc010zeo.2_Missense_Mutation_p.N215S|SCRN3_uc002uis.3_Missense_Mutation_p.N159S	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.	417					proteolysis		dipeptidase activity	p.N417fs*>4(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TATCAGTCAAATTTATCAGTC	0.323000													13	21					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24905856	24905856	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:24905856G>T	uc002rfk.3	+	5	650	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	NCOA1_uc010eye.3_Missense_Mutation_p.G131W|NCOA1_uc002rfi.3_5'UTR|NCOA1_uc002rfj.3_Missense_Mutation_p.G131W|NCOA1_uc002rfl.3_Missense_Mutation_p.G131W	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	131	PAS.							p.G131W(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTGTGAAGGGAGAATTGT	0.368000			T	PAX3	alveolar rhadomyosarcoma								18	41					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123325123	123325123	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123325123C>T	uc021pzz.1	-	2	852	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	FGFR2_uc021pzv.1_Missense_Mutation_p.V69M|FGFR2_uc021pzw.1_Intron|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.V69M|FGFR2_uc010qtl.2_Missense_Mutation_p.V69M|FGFR2_uc010qtm.2_Intron|FGFR2_uc021qaa.1_Missense_Mutation_p.V69M|FGFR2_uc021qab.1_Intron|FGFR2_uc021qac.1_Intron|FGFR2_uc001lfn.4_Intron|FGFR2_uc010qtn.2_Missense_Mutation_p.V88M|FGFR2_uc010qto.2_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.V88M|FGFR2_uc010qtp.2_Missense_Mutation_p.V88M|FGFR2_uc010qtq.2_Missense_Mutation_p.V88M	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	69	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CAACTGATCACGGCGGCATCT	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				81	157					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75388084	75388084	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:75388084G>A	uc010tux.2	-	1	689	c.161C>T	c.(160-162)gCc>gTc	p.A54V	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Missense_Mutation_p.A54V|RPS6KL1_uc001xqy.1_Missense_Mutation_p.A54V	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	54						ribosome	ATP binding|protein serine/threonine kinase activity	p.A53A(1)|p.A53V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GATCTGCGTGGCCGCATCCAC	0.592000													36	65					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76624710	76624710	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:76624710T>C	uc003pih.1	+	34	4118	c.3839T>C	c.(3838-3840)cTg>cCg	p.L1280P	MYO6_uc003pii.1_Missense_Mutation_p.L1257P|MYO6_uc003pij.1_Missense_Mutation_p.L228P	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	1289					DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.L1280V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACAGCCATGCTGCAGAGTCTG	0.512000													22	13					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74469406	74469406	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:74469406A>G	uc002jrq.2	-	15	2118	c.1824T>C	c.(1822-1824)tgT>tgC	p.C608C	RHBDF2_uc021udh.1_Silent_p.C579C|RHBDF2_uc002jrr.1_Silent_p.C460C	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	608					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGTGATCTCACAGCTAAGGG	0.597000													17	13					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316673	40316673	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40316673C>T	uc002omj.3	-	10	1852	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	DYRK1B_uc002omi.3_Silent_p.K496K|DYRK1B_uc002omk.3_Silent_p.K484K	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	524					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CTTGATGTGTCTTGTGGGGCA	0.642000													29	51					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													4	59					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937225	33937225	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:33937225C>T	uc003jic.2	+	0	735	c.380C>T	c.(379-381)aCg>aTg	p.T127M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	127						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTGGCGCTGACGGACTTTCAG	0.572000													54	89					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242036781	242036781	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:242036781A>G	uc002wan.1	-	1	1162	c.669T>C	c.(667-669)atT>atC	p.I223I	MTERFD2_uc010zoj.1_Silent_p.I6I|MTERFD2_uc010zok.1_Silent_p.I194I	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	194										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CAGTGTCGTTAATGTCCTGCT	0.463000													23	26					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365217	26365217	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26365217C>T	uc022atc.1	-	0	1055	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	PNMA2_uc003xez.2_Missense_Mutation_p.R352Q	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	352					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		ATAGCCATCTCGTTCCTCTGG	0.522000													55	212					0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131709514	131709514	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131709514C>A	uc004bwr.3	-	0	499	c.69G>T	c.(67-69)gaG>gaT	p.E23D	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	23					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CTACTGCCGCCTCTGCCAGCA	0.662000													52	50					0	0	1	0	0
MSTO2P	100129405	broad.mit.edu	37	1	155717548	155717548	+	Missense_Mutation	SNP	C	C	T	rs35177764		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:155717548C>T	uc010pgo.1	+	6	766	c.755C>T	c.(754-756)gCc>gTc	p.A252V	GON4L_uc021paz.1_Intron|MSTO2P_uc010pgn.1_Intron|MSTO2P_uc010pgp.2_Intron					Homo sapiens misato homolog 2 pseudogene (MSTO2P), non-coding RNA.																		CTCACCCCCGCCCAGGGCTTC	0.562000													4	76					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6417016	6417016	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:6417016G>A	uc002mer.4	-	11	1274	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	KHSRP_uc021unp.1_5'Flank	NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	388	Gly-rich.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTGGAGGAGGTCGTTGATGA	0.642000													9	103					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472531	69472531	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:69472531C>T	uc002sfg.3	+	17	1965	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	537	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cccgtccccaccttccaccct	0.706000									Familial Infantile Hemangioma				3	6					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28387443	28387443	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:28387443A>G	uc001zbj.3	-	75	11747	c.11641T>C	c.(11641-11643)Tcc>Ccc	p.S3881P		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3881					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAACACGGGAGGCCATGCAG	0.527000													19	28					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121351302	121351302	+	Missense_Mutation	SNP	C	C	T	rs149387044		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121351302C>T	uc003eeh.4	-	11	1242	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	HCLS1_uc011bjj.2_Missense_Mutation_p.E336K|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	373					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTctcaggctcgggctcaggc	0.607000													102	144					0	0	1	0	0
CETN2	1069	broad.mit.edu	37	X	151997817	151997817	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151997817G>A	uc004fgq.3	-	2	214	c.167C>T	c.(166-168)gCa>gTa	p.A56V	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	56	EF-hand 1.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCATTGCCACCTATAA	0.393000								Direct reversal of damage;Nucleotide excision repair (NER)					15	41					0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28384902	28384902	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28384902A>G	uc003xgx.3	+	4	1154	c.625A>G	c.(625-627)Att>Gtt	p.I209V	FZD3_uc010lvb.3_Missense_Mutation_p.I209V	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	209					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CATAGGATTGATTTCAATCAT	0.363000													34	155					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13399755	13399755	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:13399755C>T	uc003bxv.1	-	15	2378	c.2295G>A	c.(2293-2295)atG>atA	p.M765I	NUP210_uc003bxx.3_Missense_Mutation_p.M437I	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	765					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCGGACAGGACATGTCCAGCT	0.657000													30	99					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281526	152281526	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152281526C>T	uc001ezu.1	-	2	5872	c.5836G>A	c.(5836-5838)Gct>Act	p.A1946T		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1946	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1946V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCCAAGCAGATCCAAGA	0.567000									Ichthyosis				173	304					0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69925096	69925096	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:69925096T>A	uc001xle.3	+	6	1412	c.710T>A	c.(709-711)cTt>cAt	p.L237H	SLC39A9_uc021rvg.1_Missense_Mutation_p.L119H|SLC39A9_uc021rvh.1_Missense_Mutation_p.L119H|SLC39A9_uc001xlf.4_Intron|SLC39A9_uc010aqx.3_Missense_Mutation_p.L214H|SLC39A9_uc001xlg.4_Non-coding_Transcript|SLC39A9_uc021rvi.1_5'Flank	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	237					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L237I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AAAGAAGCCCTTTCAGAGGTG	0.468000													90	87					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31836101	31836101	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31836101T>C	uc003akz.2	-	18	2921	c.2723A>G	c.(2722-2724)cAt>cGt	p.H908R	EIF4ENIF1_uc003akx.2_Missense_Mutation_p.H563R|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.H588R|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.H908R|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.H734R|EIF4ENIF1_uc003akw.2_Missense_Mutation_p.H398R	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	908						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTGGAGGATGCAGAACTGT	0.512000													44	60					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79552204	79552204	+	Silent	SNP	C	C	T	rs148200124		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:79552204C>T	uc001jzk.3	-	31	5824	c.5754G>A	c.(5752-5754)ccG>ccA	p.P1918P	DLG5_uc001jzi.3_Silent_p.P673P|DLG5_uc001jzj.3_Silent_p.P1333P|DQ591438_uc021put.1_5'Flank	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1918					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTCCTAGAGCGGGCAGGCTG	0.532000													69	148					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2985584	2985584	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:2985584A>G	uc003smv.3	-	3	561	c.227T>C	c.(226-228)cTg>cCg	p.L76P		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	76	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AATGTCCAACAGCCGGCCTAG	0.478000			Mis		DLBCL								5	207					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826815	143826815	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143826815T>A	uc011kua.2	+	0	610	c.610T>A	c.(610-612)Ttc>Atc	p.F204I		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGCCTGCGTGTTCATCCTGGT	0.567000													121	139					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75182877	75182877	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:75182877C>T	uc003uds.2	-	21	2215	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	HIP1_uc011kfz.2_Missense_Mutation_p.A724T	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	724					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTTACAGGCCTCGGTCAGT	0.562000			T	PDGFRB	CMML								23	38					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383336	39383336	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:39383336T>C	uc003jlx.3	-	9	1256	c.725A>G	c.(724-726)gAa>gGa	p.E242G	DAB2_uc003jlw.3_Missense_Mutation_p.E221G	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	242					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTGTCGATTTCAGAGTTTAG	0.383000													49	70					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061187	13061187	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:13061187G>A	uc001rba.3	+	1	654	c.4G>A	c.(4-6)Gct>Act	p.A2T		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	2						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GTCCAGAATGGCTACAACAGT	0.473000													23	25					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509511	149509511	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:149509511G>A	uc003lro.3	-	9	1857	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	PDGFRB_uc010jhd.3_Missense_Mutation_p.P302L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	463	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGCGTGGGCGGCAGCTC	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	90					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110384778	110384778	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:110384778G>A	uc003hzk.3	+	1	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_uc003hzl.3_Silent_p.A285A|SEC24B_uc011cfp.2_Silent_p.A316A|SEC24B_uc011cfq.2_Silent_p.A285A|SEC24B_uc011cfr.2_Silent_p.A285A	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	285					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413000													30	57					0	0	1	0	0
PRADC1	84279	broad.mit.edu	37	2	73455661	73455661	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73455661C>A	uc002siy.3	-	4	556	c.488G>T	c.(487-489)tGg>tTg	p.W163L		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	Homo sapiens protease-associated domain containing 1 (PRADC1), mRNA.	163	PA.					extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						AATGATGGCCCATGGCAGCCC	0.562000													20	30					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351810	42351810	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:42351810C>T	uc010xwe.2	+	2	314	c.231C>T	c.(229-231)cgC>cgT	p.R77R	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Silent_p.R77R	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	77					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R77H(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTAGGGAGCGCCGCAGGGTCA	0.602000													13	26					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53517031	53517031	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53517031C>T	uc003pcb.4	-	2	1411	c.1270G>A	c.(1270-1272)Gcg>Acg	p.A424T	AX746830_uc003pcc.1_Silent_p.R141R	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGGCCGCCCGCGGCGTACACG	0.647000													41	109					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650983	94650983	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:94650983G>C	uc001dqj.4	-	16	2204	c.1835C>G	c.(1834-1836)aCa>aGa	p.T612R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.T178R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	612					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.T612I(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAACTTGTGTGTGAGAGCTGC	0.373000													24	37					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527326	26527326	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:26527326C>T	uc010oez.2	+	7	993	c.993C>T	c.(991-993)ggC>ggT	p.G331G	CATSPER4_uc010oey.1_Silent_p.G153G|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	331					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGACAGGCGCAGAGGAAG	0.627000													25	51					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54684567	54684567	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:54684567G>A	uc002qdq.3	-	6	1043	c.777C>T	c.(775-777)gcC>gcT	p.A259A	MBOAT7_uc010erg.3_Intron|MBOAT7_uc010yem.2_Silent_p.A241A|MBOAT7_uc002qdr.3_Silent_p.A259A|MBOAT7_uc002qds.3_Silent_p.A186A|MBOAT7_uc010yen.2_Silent_p.A186A|MBOAT7_uc002qdt.4_Silent_p.A259A	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	259					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCCAAAGCCGGCGGCAATGC	0.711000											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	8					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566315	136566315	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136566315G>A	uc002tuu.1	-	7	3613	c.3602C>T	c.(3601-3603)gCc>gTc	p.A1201V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1201	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A1201A(1)|p.T1200R(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGACGTCGGCCGTCGCCCT	0.557000													96	115					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6478961	6478961	+	Silent	SNP	C	C	T	rs116462813	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6478961C>T	uc001mdh.3	-	4	876	c.480G>A	c.(478-480)gcG>gcA	p.A160A	TRIM3_uc001mdi.3_Silent_p.A160A|TRIM3_uc010raj.2_Silent_p.A41A|TRIM3_uc009yfd.3_Silent_p.A160A|TRIM3_uc010rak.1_Silent_p.A160A|TRIM3_uc001mdj.2_Silent_p.A41A	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	160					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCAGGGCCGCCTTGTGCT	0.687000													39	61					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55497518	55497518	+	Splice_Site	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:55497518G>T	uc021vbq.1	+	8	2313	c.2202_splice	c.e8-1	p.V734_splice	NLRP2_uc010yfp.2_Splice_Site_p.V711_splice|NLRP2_uc002qij.3_Splice_Site_p.V734_splice|NLRP2_uc010esp.3_Splice_Site_p.V712_splice|NLRP2_uc010esn.3_Splice_Site_p.V710_splice|NLRP2_uc010eso.3_Splice_Site_p.V731_splice	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	734					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTTCCCTAGGTTCAAAAAC	0.423000													15	27					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629084	19629084	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:19629084G>A	uc002ykv.3	+	1	729	c.338G>A	c.(337-339)gGt>gAt	p.G113D	CHODL_uc002ykr.3_Missense_Mutation_p.G72D|CHODL_uc002yks.3_Missense_Mutation_p.G72D|CHODL_uc021whr.1_Missense_Mutation_p.G72D|CHODL_uc002ykt.3_Missense_Mutation_p.G72D|CHODL_uc002yku.3_Missense_Mutation_p.G72D|CHODL_uc021whs.1_Missense_Mutation_p.G94D	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	113	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CAAACATCTGGTGCCTGCCCA	0.507000													45	61					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43762154	43762154	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:43762154A>G	uc001zrs.3	-	10	1424	c.1276T>C	c.(1276-1278)Tcc>Ccc	p.S426P	TP53BP1_uc010udp.2_Missense_Mutation_p.S426P|TP53BP1_uc001zrq.4_Missense_Mutation_p.S431P|TP53BP1_uc001zrr.4_Missense_Mutation_p.S431P|TP53BP1_uc010udq.1_Missense_Mutation_p.S431P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	426					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATACAGTGGACTCAGGCAGG	0.498000								Other conserved DNA damage response genes					4	170					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786408	112786408	+	Silent	SNP	C	C	T	rs140956730		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:112786408C>T	uc002thk.1	+	18	3089	c.2967C>T	c.(2965-2967)gaC>gaT	p.D989D	MERTK_uc002thl.1_Silent_p.D813D	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	989					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGTTTGCTGACGACTCCTCAG	0.502000													25	29					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135119889	135119889	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:135119889G>A	uc002ttw.4	+	9	1435	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	430					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGTTGAGCAGCACCTGAACT	0.458000													86	119					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176478	49176478	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49176478T>C	uc001rsh.4	-	0	1400	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ADCY6_uc001rsi.4_Missense_Mutation_p.Y247C|ADCY6_uc001rsj.4_Missense_Mutation_p.Y247C	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	247					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTAGGCGATGTAGACAAAGAA	0.662000													5	13					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24860369	24860369	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:24860369C>T	uc001upd.2	+	7	2897	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.N773N|SPATA13_uc001upg.2_Silent_p.N148N|SPATA13_uc010tcy.1_Silent_p.N94N|SPATA13_uc010tcz.2_Silent_p.N94N|SPATA13_uc010tdb.2_Silent_p.N70N|SPATA13_uc010tda.2_Silent_p.N92N|SPATA13_uc001uph.3_Silent_p.N70N|SPATA13_uc009zzz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	148					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587000													57	81					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134381807	134381807	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134381807G>A	uc004cav.3	+	3	449	c.247G>A	c.(247-249)Gat>Aat	p.D83N	POMT1_uc011mci.1_Missense_Mutation_p.D83N|POMT1_uc004cax.3_Missense_Mutation_p.D83N|POMT1_uc011mcj.2_5'UTR|POMT1_uc004cau.3_Missense_Mutation_p.D83N|POMT1_uc004caw.3_Missense_Mutation_p.D29N|POMT1_uc011mck.2_5'UTR|POMT1_uc011mcl.2_5'UTR|POMT1_uc011mcm.2_Missense_Mutation_p.R47Q	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	83					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AGGAGGATTCGATGGCAATTT	0.348000													83	122					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145154	99145154	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:99145154G>A	uc001tge.2	-	24	4068	c.3651C>T	c.(3649-3651)cgC>cgT	p.R1217R	ANKS1B_uc001tgf.2_Silent_p.R733R|ANKS1B_uc001tgk.3_Silent_p.R514R|ANKS1B_uc010svd.2_Silent_p.R223R|ANKS1B_uc001tgd.2_Silent_p.R383R|ANKS1B_uc009ztp.3_Silent_p.R248R|ANKS1B_uc010svf.2_Silent_p.R247R|ANKS1B_uc010sve.2_Silent_p.R247R|ANKS1B_uc001tgh.4_Silent_p.R223R|ANKS1B_uc009ztr.3_Silent_p.R407R|ANKS1B_uc001tgj.3_Silent_p.R383R|ANKS1B_uc001tgi.3_Silent_p.R467R|ANKS1B_uc009zts.2_Silent_p.R443R|ANKS1B_uc001tgg.4_Silent_p.R315R|ANKS1B_uc010svg.2_Silent_p.R352R	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	1217						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAATGCTAACGCGGGGCTTGG	0.498000													18	32					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215853543	215853543	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:215853543C>T	uc001hku.1	-	61	12629	c.12242G>A	c.(12241-12243)cGg>cAg	p.R4081Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4081	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R4081W(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCAATGCCCGGCCATTCTC	0.408000										HNSCC(13;0.011)			47	74					0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10335188	10335188	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10335188C>T	uc002mnl.2	-	1	505	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	S1PR2_uc021uos.1_Missense_Mutation_p.V132M	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	132					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAATGGCCACGTGGCGCTCA	0.637000													29	43					0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48802450	48802450	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48802450C>T	uc010hki.1	-	7	1101	c.860G>A	c.(859-861)cGc>cAc	p.R287H	PRKAR2A_uc003cux.1_Missense_Mutation_p.R287H|PRKAR2A_uc003cuy.1_Missense_Mutation_p.R287H	NM_004157	NP_004148	P13861	KAP2_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA.	287					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		AGTGATTATGCGTTCTCCATC	0.408000													12	22					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088332	39088332	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:39088332A>T	uc002rrf.3	-	4	1319	c.1220T>A	c.(1219-1221)gTc>gAc	p.V407D	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.V407D	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	407							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGAATATACGACAGGTTCCGA	0.403000													53	69					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451501	43451501	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43451501C>T	uc002rsv.4	-	1	1733	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	481					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGGCAGGCGGCGGCCAGGGTC	0.667000													7	9					0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627119	43627119	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:43627119G>A	uc011lrb.2	-	3	1597	c.1568C>T	c.(1567-1569)gCa>gTa	p.A523V		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	523						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ATTCTGCGATGCAGGGCAAGC	0.502000													150	208					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120850597	120850597	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:120850597C>T	uc003yov.3	-	7	1110	c.975G>A	c.(973-975)ctG>ctA	p.L325L		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	Homo sapiens defective in sister chromatid cohesion 1 homolog (S. cerevisiae) (DSCC1), mRNA.	325					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCTACTTTCAGCAAAAATA	0.368000													45	150					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123932	151123932	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151123932C>T	uc004ffi.3	-	7	1099	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	349					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAGAAGACGAAGCAGATG	0.488000													57	60					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42949408	42949408	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:42949408C>T	uc003thx.4	-	1	1751	c.1266G>A	c.(1264-1266)acG>acA	p.T422T	C7orf25_uc010kxq.3_Silent_p.T364T|C7orf25_uc010kxr.3_Silent_p.T422T|C7orf25_uc022ace.1_Silent_p.T364T	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGGTGTCTCCCGTCCCAAAAA	0.433000													41	37					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8448900	8448900	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:8448900C>T	uc002glm.3	-	12	1393	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T	MYH10_uc002gll.3_Missense_Mutation_p.A423T|MYH10_uc010cnx.3_Missense_Mutation_p.A432T	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	423	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGCCAATGCTTCTACTGCA	0.398000													20	26					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109493059	109493059	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:109493059T>C	uc021ora.1	-	0	12	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.M1V|CLCC1_uc001dwf.1_Splice_Site|CLCC1_uc009wes.1_Missense_Mutation_p.M1V|CLCC1_uc009wet.1_Missense_Mutation_p.M1V|CLCC1_uc001dwh.1_Missense_Mutation_p.M1V	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	1						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAACACAGCATCCTGTATAAG	0.299000													14	18					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122289431	122289431	+	Missense_Mutation	SNP	G	G	A	rs142707005		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:122289431G>A	uc003efk.3	+	3	2154	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	DTX3L_uc010hrj.3_Missense_Mutation_p.V177M|DTX3L_uc021xdb.1_3'UTR	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	689					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GATTTTTACAGTGGGGTACTC	0.433000													34	57					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883622	39883622	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39883622C>T	uc003axv.4	+	1	509	c.270C>T	c.(268-270)gcC>gcT	p.A90A	MGAT3_uc010gxy.3_Silent_p.A90A	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	90					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701000													36	57					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35105812	35105812	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35105812C>T	uc003zwl.3	-	7	1655	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	STOML2_uc003zwi.3_5'Flank|STOML2_uc011lou.2_5'Flank|FAM214B_uc003zwm.3_Missense_Mutation_p.V444M|FAM214B_uc003zwn.3_Missense_Mutation_p.V139M|FAM214B_uc003zwo.3_Missense_Mutation_p.V444M|FAM214B_uc003zwp.1_Missense_Mutation_p.V444M	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	444						nucleus											TCAAAGGTCACAAGGAACATC	0.547000													24	42					0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30560725	30560725	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30560725G>T	uc003xih.2	-	4	659	c.525C>A	c.(523-525)gcC>gcA	p.A175A	GSR_uc022ato.1_Silent_p.A175A|GSR_uc022atp.1_Silent_p.A175A|GSR_uc022atq.1_Silent_p.A175A	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	175					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CACTCGTGAAGGCTGCATGGC	0.483000													13	198					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511156	2511156	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2511156T>G	uc002cqh.3	+	3	567	c.536T>G	c.(535-537)cTc>cGc	p.L179R	C16orf59_uc002cqg.2_Missense_Mutation_p.L12R|C16orf59_uc002cqi.3_Missense_Mutation_p.L12R|C16orf59_uc010uwb.2_Missense_Mutation_p.L12R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	179										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGGCGGGCCTCAGGGACCAG	0.677000													14	24					0	0	1	0	0
RAC3	5881	broad.mit.edu	37	17	79991680	79991680	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79991680C>T	uc002kdf.3	+	5	660	c.554C>T	c.(553-555)cCg>cTg	p.P185L		NM_005052	NP_005043	P60763	RAC3_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) (RAC3), mRNA.	185					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTGAAGAAGCCGGGGAAGAAG	0.652000													17	7					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490215	150490215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150490215C>T	uc022apx.1	-	3	687	c.561G>A	c.(559-561)tgG>tgA	p.W187*	TMEM176B_uc003whu.4_Nonsense_Mutation_p.W187*|TMEM176B_uc003whv.4_Nonsense_Mutation_p.W150*|TMEM176B_uc003whw.4_Nonsense_Mutation_p.W187*	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	187					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTTCTGCCATTGGTTCT	0.527000													27	58					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204938	5204938	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:5204938C>T	uc009xhz.2	-	1		c.222G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGGAAGCCTACGTCAATAGCC	0.473000													72	81					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864220	153864220	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:153864220T>G	uc003inf.2	+	0	86	c.11T>G	c.(10-12)aTg>aGg	p.M4R		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	4					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATGCATGTTATGAATTGTGTC	0.448000													37	32					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67650654	67650654	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67650654G>A	uc002etl.3	+	4	1403	c.959G>A	c.(958-960)cGt>cAt	p.R320H	CTCF_uc010cek.3_5'UTR	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	320					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAGGTACTCGTCCTCACAAG	0.488000													104	124					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135702409	135702409	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:135702409C>T	uc004cbu.1	-	7	1145	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	197						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.E197K(3)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATTTCAGATTCGGGTGGCCAG	0.542000													105	145					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12334194	12334194	+	Missense_Mutation	SNP	G	G	A	rs148238873		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:12334194G>A	uc001rah.4	-	5	1298	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R386C	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	386	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATAAATGAACGGCGTATGGCC	0.463000													65	94					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802764	31802764	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:31802764G>T	uc011acw.2	+	0	171	c.171G>T	c.(169-171)gaG>gaT	p.E57D		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	57	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CCTGCTGGGAGCCCGCCAGCT	0.617000													40	38					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885199	13885199	+	Missense_Mutation	SNP	C	C	T	rs104894661		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:13885199C>T	uc002ksp.1	-	1	496	c.319G>A	c.(319-321)Gac>Aac	p.D107N	MC2R_uc021uhs.1_Missense_Mutation_p.D107N	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	107			D -> N (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AACAGGGAGTCGATGATGTCA	0.498000													21	38					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152960290	152960290	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:152960290C>T	uc004fib.3	+	11	1991	c.1713C>T	c.(1711-1713)tgC>tgT	p.C571C	SLC6A8_uc004fic.3_Silent_p.C561C|SLC6A8_uc011myx.1_Silent_p.C456C|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	571					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCATGCTGTGCGTGCCGCTGC	0.662000													11	19					0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111409147	111409147	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:111409147C>T	uc003pus.3	+	0	367	c.192C>T	c.(190-192)ccC>ccT	p.P64P	SLC16A10_uc003pur.4_Silent_p.P64P	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	64					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		CCCCCGAACCCCCCGAGGGCG	0.731000													16	35					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079317	31079317	+	Silent	SNP	C	C	T	rs147375238	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31079317C>T	uc003nsk.1	-	1	819	c.819G>A	c.(817-819)ggG>ggA	p.G273G		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	273	Gly-rich.							p.G273R(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GATTAATATTCCCCCAGCTGC	0.498000													5	189					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499635	18499635	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:18499635A>G	uc001rdt.3	+	10	1606	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.Y497C|PIK3C2G_uc010sic.2_Missense_Mutation_p.Y275C	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	497					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.Y497Y(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCAATGTCTACTGTAACAGC	0.423000													21	46					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29449848	29449848	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:29449848T>C	uc002rmy.3	-	17	3959	c.3007A>G	c.(3007-3009)Aag>Gag	p.K1003E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1003					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGATGACCTTGTGGCTTTCA	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				58	143					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118463610	118463610	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:118463610C>T	uc001twq.3	+	6	767	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	RFC5_uc010syx.2_Missense_Mutation_p.R193C|RFC5_uc010syz.2_Missense_Mutation_p.R129C|RFC5_uc009zwr.3_Missense_Mutation_p.R214C	NM_007370	NP_001123584	P40937	RFC5_HUMAN	Homo sapiens replication factor C (activator 1) 5, 36.5kDa (RFC5), transcript variant 1, mRNA.	214					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGACATGCGTAGGGCTCT	0.423000													38	55					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:1265997G>A	uc001lta.3	+	30	7946	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T2629T(2)|p.R2628L(1)|p.T2608T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637000													57	79					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2282537	2282537	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2282537C>T	uc002cpm.3	+	4	738	c.690C>T	c.(688-690)cgC>cgT	p.R230R	E4F1_uc010bsi.3_Silent_p.R230R|E4F1_uc010bsj.3_Silent_p.R230R	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	230	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CCTCCTTCCGCACCAAGGGCT	0.692000													12	29					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41000844	41000844	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:41000844C>T	uc002ony.3	+	5	714	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	SPTBN4_uc002onx.3_Missense_Mutation_p.R210W|SPTBN4_uc002onz.3_Missense_Mutation_p.R210W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	210	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCAGCTGGCGGGATGGCTT	0.582000													20	36					0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67212216	67212216	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67212216G>A	uc002ert.3	-	4	1874	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	KIAA0895L_uc002err.3_Non-coding_Transcript|KIAA0895L_uc002ers.3_Missense_Mutation_p.R192C|KIAA0895L_uc002eru.3_Missense_Mutation_p.R347C	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	347										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AAGGACATGCGCGCGGCGCGG	0.682000													13	8					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101437381	101437381	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101437381A>G	uc010svm.1	+	12	1791	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	ANO4_uc001thw.2_Missense_Mutation_p.M372V|ANO4_uc001thx.2_Missense_Mutation_p.M407V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	407						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGTCCATTCATGAGGCTGTC	0.393000										HNSCC(74;0.22)			22	43					0	0	1	0	0
ARX	170302	broad.mit.edu	37	X	25031207	25031207	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:25031207G>T	uc004dbp.4	-	1	1116	c.905C>A	c.(904-906)gCt>gAt	p.A302D		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CTTGCCCTCAGCGTCTTCCGG	0.697000													5	7					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118422942	118422942	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:118422942C>T	uc001pto.2	-	8	1164	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	IFT46_uc001ptp.2_Missense_Mutation_p.V198M	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	198					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GTGTAGTGCACAGTCGCAGGG	0.458000													4	122					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45810891	45810891	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45810891G>A	uc010gpt.1	+	9	1523	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	TRPM2_uc002zet.1_Missense_Mutation_p.D475N|TRPM2_uc002zeu.1_Missense_Mutation_p.D475N|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.D475N|TRPM2_uc002zex.1_Missense_Mutation_p.D261N|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	475						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GATCTTCATGGATGAGTGGCA	0.582000													58	57					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38835513	38835513	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:38835513T>C	uc003xmj.3	+	3	928	c.813T>C	c.(811-813)ctT>ctC	p.L271L		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	271	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CATCTGACCTTCGGGCTGGAG	0.517000													52	168					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100045604	100045604	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:100045604G>T	uc003hun.3	-	8	1208	c.1132C>A	c.(1132-1134)Ctc>Atc	p.L378I	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.L397I	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	378					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CAAAAGATGAGGATTGTTCGG	0.323000													3	8					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15295220	15295220	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15295220C>T	uc002nan.3	-	15	2528	c.2452G>A	c.(2452-2454)Gca>Aca	p.A818T	NOTCH3_uc002nao.1_Intron	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	818	EGF-like 21; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A818S(3)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACAGGGTGCGGGGCCAGCA	0.612000													23	50					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832912	61832912	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:61832912C>A	uc001jky.3	-	36	8065	c.7727G>T	c.(7726-7728)aGg>aTg	p.R2576M	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2576					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGTCCACCCTATCTTCATA	0.423000													37	104					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53787465	53787465	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53787465A>G	uc003pcd.1	+	13	1970	c.1449A>G	c.(1447-1449)ccA>ccG	p.P483P		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	483						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTCCACACCCAGGGGAGTTAA	0.413000													76	217					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156526	70156526	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:70156526C>A	uc003hej.3	+	4	1309	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	436					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTAATGATCCTTCGTGAGTA	0.398000													48	68					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76989847	76989847	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76989847C>T	uc002jwj.3	-	3	1486	c.991G>A	c.(991-993)Gct>Act	p.A331T	CANT1_uc002jwn.3_Missense_Mutation_p.A331T|CANT1_uc002jwk.3_Missense_Mutation_p.A331T|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	331					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGGCTCACAGCGATGTCGCCG	0.657000			T	ETV4	prostate								28	39					0	0	1	0	0
KLF16	83855	broad.mit.edu	37	19	1854672	1854672	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:1854672G>A	uc002luc.3	-	1	613	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	Homo sapiens Kruppel-like factor 16 (KLF16), mRNA.	182						nucleus	DNA binding|zinc ion binding			lung(1)	1		Ovarian(11;1.78e-06)|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)		CTTCTCGCCCGTGTGCGTCCG	0.687000													34	44					0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328274	62328274	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62328274T>A	uc002yfy.3	+	4	782	c.154T>A	c.(154-156)Tgc>Agc	p.C52S	RTEL1_uc002yfu.2_3'UTR|RTEL1_uc011abd.2_3'UTR|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_3'UTR|RTEL1_uc021wge.1_3'UTR|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.3_Missense_Mutation_p.C52S	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	52					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GTGCGCCCAGTGCCCCCCAGG	0.701000													32	22					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133958682	133958682	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:133958682G>A	uc001lkx.4	+	10	1674	c.1674G>A	c.(1672-1674)gcG>gcA	p.A558A	JAKMIP3_uc009yba.1_5'UTR	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCCCTGGCGGAGCAGGGGC	0.607000													11	29					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709560	67709560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67709560C>T	uc002eub.3	-	2	951	c.656G>A	c.(655-657)aGc>aAc	p.S219N	GFOD2_uc002euc.3_Missense_Mutation_p.S114N|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	219						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GAAGTCATCGCTAGTGACGTG	0.577000													31	29					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12693029	12693029	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:12693029T>C	uc004cuz.2	+	5	974	c.468_splice	c.e5+2	p.P156_splice	FRMPD4_uc011mij.2_Splice_Site_p.P148_splice	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	156					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTACCCTGTAAGTGTTCTG	0.393000													5	114					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095958	167095958	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:167095958C>A	uc001geb.1	+	4	1606	c.1590C>A	c.(1588-1590)ttC>ttA	p.F530L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	530					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTTCCTTCTACAACTTCT	0.542000													47	60					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123279677	123279677	+	Missense_Mutation	SNP	G	G	C	rs121918498		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123279677G>C	uc021pzz.1	-	6	1402	c.755C>G	c.(754-756)tCg>tGg	p.S252W	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.S137W|FGFR2_uc021pzx.1_Missense_Mutation_p.S163W|FGFR2_uc021pzy.1_Missense_Mutation_p.S252W|FGFR2_uc010qtl.2_Missense_Mutation_p.S252W|FGFR2_uc010qtm.2_Missense_Mutation_p.S137W|FGFR2_uc021qaa.1_Missense_Mutation_p.S252W|FGFR2_uc021qab.1_Missense_Mutation_p.S163W|FGFR2_uc021qac.1_Missense_Mutation_p.S182W|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.S271W|FGFR2_uc010qto.2_Missense_Mutation_p.S156W|FGFR2_uc001lfo.1_Missense_Mutation_p.S271W|FGFR2_uc010qtp.2_Missense_Mutation_p.S271W|FGFR2_uc001lfg.4_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	252			S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|S -> W (in APRS and PS; common mutation).|SP -> FS (in PS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.S252W(111)|p.S163W(13)|p.R251Q(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCGGTGAGGCGATCGCTCTGG	0.557000	S252W(MFE280_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				12	27					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138522791	138522791	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:138522791C>T	uc011kql.2	-	19	5762	c.5713G>A	c.(5713-5715)Ggc>Agc	p.G1905S	KIAA1549_uc011kqi.2_Missense_Mutation_p.G673S|KIAA1549_uc011kqk.2_Missense_Mutation_p.G689S|KIAA1549_uc011kqj.2_Missense_Mutation_p.G1889S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1905						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCCCAGGGCCCTGCAGTCCC	0.622000			O	BRAF	pilocytic astrocytoma								13	11					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12214859	12214859	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:12214859C>T	uc001ilj.3	-	6	808	c.392G>A	c.(391-393)tGt>tAt	p.C131Y		NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA.	131	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TGGGTCCATACAGACCGCTGT	0.507000													17	25					0	0	1	0	0
MSX2	4488	broad.mit.edu	37	5	174151740	174151740	+	Silent	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:174151740G>C	uc003mcy.3	+	0	166	c.78G>C	c.(76-78)ccG>ccC	p.P26P		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	26					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCAGGCCCGGGGCCTGGGG	0.682000													5	20					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62236098	62236098	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62236098A>G	uc002yfp.1	-	1	706	c.227T>C	c.(226-228)tTa>tCa	p.L76S	GMEB2_uc002yfo.1_5'UTR|GMEB2_uc002yfq.1_Missense_Mutation_p.L76S	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	76					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CTTCCTACCTAACACGGCTTC	0.572000													23	128					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	398171	398171	+	Splice_Site	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:398171C>G	uc002wdp.4	+	3	861	c.168_splice	c.e3-1	p.R56_splice	RBCK1_uc010zpl.1_Splice_Site_p.R56_splice|RBCK1_uc010zpm.1_Splice_Site|RBCK1_uc002wdq.4_Splice_Site_p.R14_splice|RBCK1_uc010fzy.3_Splice_Site|RBCK1_uc002wdr.4_Splice_Site	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	56	Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like.				T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCTCTGCAGGCTGTGGGTGAG	0.592000													17	58					0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62201882	62201882	+	Missense_Mutation	SNP	C	C	T	rs138005803		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62201882C>T	uc002yfm.2	-	3	1437	c.545G>A	c.(544-546)aGc>aAc	p.S182N	PRIC285_uc002yfl.1_5'Flank|PRIC285_uc002yfn.2_Missense_Mutation_p.S182N	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	182					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AAACGTCCAGCTGTACTGGGT	0.627000													49	32					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784646	9784646	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:9784646C>T	uc003gmb.4	+	0	1389	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	331					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P330Q(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCCTCCGGCCGGCTTCCCCT	0.592000													84	84					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6238902	6238902	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6238902C>T	uc001mck.4	-	8	2315	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	FAM160A2_uc001mcl.4_Silent_p.V638V|FAM160A2_uc001mcm.2_Silent_p.V638V	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	638					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGATCCTGGCACTCCATTGA	0.672000													18	33					0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113660947	113660947	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:113660947C>T	uc001pof.1	+	0		c.995C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		TAAGCCATGGCGCTTCTCAGG	0.592000													5	11					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837257	82837257	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:82837257T>C	uc003kii.3	+	7	8791	c.8435T>C	c.(8434-8436)tTa>tCa	p.L2812S	VCAN_uc003kij.3_Missense_Mutation_p.L1825S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.L1476S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2812	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATACAACATTAGCAGTTTCA	0.458000													88	77					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40502378	40502378	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:40502378G>A	uc001zkx.4	+	17	2564	c.2352G>A	c.(2350-2352)gcG>gcA	p.A784A		NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	784	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTGGGTGGCGCCAAGAAACT	0.338000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				36	37					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044561	119044561	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:119044561C>T	uc001pvu.3	+	4	818	c.603C>T	c.(601-603)gaC>gaT	p.D201D	NLRX1_uc010rzc.1_Silent_p.D23D|NLRX1_uc001pvv.3_Silent_p.D201D|NLRX1_uc001pvw.3_Silent_p.D201D|NLRX1_uc001pvx.3_Silent_p.D201D	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	201	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCTGTGAGGACCTGTCATCCC	0.647000													26	45					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35624439	35624439	+	Silent	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:35624439T>A	uc021rid.1	+	5	1413	c.879T>A	c.(877-879)gcT>gcA	p.A293A	NBEA_uc021ric.1_Silent_p.A293A	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	293						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTACTCTGCTCATTTTGTTG	0.353000													8	8					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30039052	30039052	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30039052C>T	uc003npe.3	-	3	1161	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	RNF39_uc003npd.3_Intron	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	367	B30.2/SPRY.					cytoplasm	zinc ion binding										TCCAGGTCCACGCGAATGCGC	0.751000													4	15					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779388	117779388	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:117779388G>A	uc001prs.2	-	8	1367	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	TMPRSS13_uc009yzr.2_Silent_p.T372T|TMPRSS13_uc021qrc.1_Silent_p.T407T|TMPRSS13_uc001prt.1_Silent_p.T86T|TMPRSS13_uc001pru.2_Silent_p.T407T	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	402	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCTCCTCATCGGTGTAATTGC	0.617000													11	5					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8588799	8588799	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:8588799C>A	uc003glk.3	+	2	1294	c.801C>A	c.(799-801)ccC>ccA	p.P267P	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	267					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGCTCGTGCCCTTCGTCACCG	0.652000													24	36					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17836817	17836817	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17836817C>T	uc002nhe.1	+	4	633	c.624C>T	c.(622-624)tgC>tgT	p.C208C	MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Silent_p.C182C	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	208	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						AGGGCCTGTGCGAATTCCTGG	0.716000													13	15					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7090985	7090985	+	Silent	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7090985A>T	uc001qsi.3	-	3	561	c.447T>A	c.(445-447)acT>acA	p.T149T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_Silent_p.T43T|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Silent_p.T7T	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	149					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCAGCTTCAAAGTCAGAACAC	0.522000													5	81					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397363	125397363	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:125397363G>A	uc001ugs.4	-	1	1413	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.L319F|UBC_uc001ugu.1_Missense_Mutation_p.L319F|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.L319F|UBC_uc001ugw.3_Missense_Mutation_p.L167F	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	319	Ubiquitin-like 5.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCACTTCGAGAGTGATGGTC	0.517000													70	189					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92929320	92929320	+	Silent	SNP	G	G	A	rs142689077	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:92929320G>A	uc003kkj.3	+	2	2731	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	NR2F1_uc021ybj.1_Silent_p.S297S|NR2F1_uc021ybk.1_Silent_p.S323S	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	348					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.S348L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGGAGAAGTCGCAGTGCGCAC	0.647000													69	110					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149906974	149906974	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:149906974T>C	uc001etl.4	-	4	624	c.373A>G	c.(373-375)Aaa>Gaa	p.K125E	MTMR11_uc001etm.2_Missense_Mutation_p.K53E|MTMR11_uc010pbm.1_Missense_Mutation_p.K97E|MTMR11_uc010pbn.1_5'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	125							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGATAAATTTATGCAGGGAC	0.532000													4	147					0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49841230	49841230	+	Missense_Mutation	SNP	G	G	A	rs147415665		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49841230G>A	uc002pnd.3	+	4	512	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.G131S|CD37_uc010yan.1_Missense_Mutation_p.G63S|CD37_uc002pnf.3_Missense_Mutation_p.G103S|CD37_uc002pne.3_Missense_Mutation_p.G63S	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	131						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCAAAAGTACGGCACCAACCC	0.642000													22	33					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56249561	56249561	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:56249561G>A	uc002qly.3	-	0	208	c.180C>T	c.(178-180)gaC>gaT	p.D60D		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	60	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGTAATGTTTGTCCAGCAGCT	0.468000													248	323					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39575909	39575909	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:39575909C>A	uc002lap.3	+	7	900	c.842C>A	c.(841-843)cCt>cAt	p.P281H	PIK3C3_uc010xcl.2_Missense_Mutation_p.P218H	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	281					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAAGTGGACCTTCTGACCAC	0.348000										TSP Lung(28;0.18)			37	49					0	0	1	0	0
TAF8	129685	broad.mit.edu	37	6	42036324	42036324	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:42036324C>T	uc003ort.3	+	6	788	c.759C>T	c.(757-759)aaC>aaT	p.N253N	TAF8_uc003ors.3_Silent_p.N253N|TAF8_uc003oru.1_Silent_p.N253N|TAF8_uc003orv.1_Silent_p.N253N|TAF8_uc011dun.2_Silent_p.N177N			Q7Z7C8	TAF8_HUMAN	Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA.	253					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	p.E252D(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACACAGAGAACCTTGCTCTTC	0.532000													80	212					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120386010	120386010	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:120386010C>T	uc003vjj.1	+	4	2609	c.1644C>T	c.(1642-1644)agC>agT	p.S548S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	548					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.G547*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TATCAGGAAGCCATCAAGGTA	0.443000													23	52					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428472	57428472	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57428472C>T	uc002xzw.3	+	0	437	c.152C>T	c.(151-153)aCc>aTc	p.T51I	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGATGGAGACCGAACCGCCT	0.652000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			16	4					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349203	103349203	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103349203C>A	uc022cbz.1	-	0	738	c.738G>T	c.(736-738)caG>caT	p.Q246H	SLC25A53_uc004elu.3_Missense_Mutation_p.Q246H	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	246					transport	integral to membrane|mitochondrial inner membrane											TTGGCATGTTCTGCCATCCAA	0.527000													24	48					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160141103	160141103	+	Silent	SNP	G	G	A	rs142215427		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:160141103G>A	uc001fve.4	+	10	2033	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.P21P	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	518					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGTGCTCCGGAGAGGATCT	0.502000													56	62					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17955064	17955064	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17955064C>T	uc002nhn.4	-	1	263	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.V55M|JAK3_uc010xpx.1_Missense_Mutation_p.V55M|JAK3_uc010xpy.1_Missense_Mutation_p.V55M	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	55	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.V55L(3)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCAGCCTGCACGCACAGGTCC	0.657000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								8	11					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25050931	25050931	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25050931C>T	uc010ykm.2	-	12	2471	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	ADCY3_uc002rfr.4_Intron|ADCY3_uc002rfs.4_Missense_Mutation_p.A758T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	758					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACAGCACGGCCACATAGTTG	0.597000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	27					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75113749	75113749	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:75113749C>T	uc002snd.3	+	14	4094	c.2168C>T	c.(2167-2169)aCa>aTa	p.T723I		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	723	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACTTCCGCACAGAATTTGAT	0.562000													54	80					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31323957	31323957	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:31323957G>A	uc002hhs.1	+	2	515	c.440G>A	c.(439-441)aGc>aAc	p.S147N	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	147					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CAGATCAACAGCCGGAGGTGG	0.607000													61	72					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415164	121415164	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121415164C>T	uc010hrc.3	-	12	4332	c.4206G>A	c.(4204-4206)ctG>ctA	p.L1402L	GOLGB1_uc003eei.4_Silent_p.L1397L|GOLGB1_uc003eej.4_Silent_p.L1363L|GOLGB1_uc021xcy.1_Silent_p.L1322L|GOLGB1_uc011bjm.1_Silent_p.L1283L|GOLGB1_uc010hrd.1_Silent_p.L1361L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1397					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGAGTTTTTGCAGTTCATCCA	0.408000													5	150					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120097673G>A	uc001pxb.3	+	2	756	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	172										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647000													27	24					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960123	73960123	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73960123G>A	uc004eby.3	-	2	4886	c.4269C>T	c.(4267-4269)cgC>cgT	p.R1423R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1423					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAAGGTAGAGCGAGAGTCCT	0.443000													59	73					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48801143	48801143	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48801143G>A	uc003xqi.3	-	34	4403	c.4346C>T	c.(4345-4347)gCt>gTt	p.A1449V	PRKDC_uc003xqj.3_Missense_Mutation_p.A1449V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1450					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGACACAACAGCAGCCAGCCT	0.448000								Non-homologous end-joining					7	15					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25748146	25748146	+	RNA	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:25748146G>A	uc021ttg.1	+	3		c.1861G>A			TBC1D3P5_uc002gzg.3_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 5 (TBC1D3P5), non-coding RNA.																		GGAACTGCCCGGTCAGAGCCC	0.627000													11	11					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495020	103495020	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103495020C>T	uc004ely.3	-	3	1179	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	370	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P370P(2)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGGGCGGCCCGGGTG	0.697000													27	37					0	0	1	0	0
CTRB1	1504	broad.mit.edu	37	16	75258615	75258615	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:75258615G>A	uc002fds.3	+	6	665	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_001906	NP_001897			Homo sapiens chymotrypsinogen B1 (CTRB1), mRNA.											central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)		CGACTCTGGCGGCCCCCTGGT	0.662000													28	40					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116356773	116356773	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:116356773T>C	uc004bhq.3	+	22	3353	c.3144T>C	c.(3142-3144)ccT>ccC	p.P1048P	RGS3_uc004bhs.3_Silent_p.P938P|RGS3_uc004bht.3_Silent_p.P767P|RGS3_uc010muy.3_Silent_p.P441P|RGS3_uc004bhv.3_Silent_p.P369P|RGS3_uc004bhw.3_Silent_p.P18P|RGS3_uc011lxh.2_Silent_p.P369P|RGS3_uc004bhx.3_Silent_p.P369P|RGS3_uc004bhz.3_Silent_p.P390P|RGS3_uc004bia.3_Silent_p.P161P	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1048					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGGAGCCCCTCCCGCGGGCA	0.587000													35	70					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108165727	108165727	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108165727T>G	uc001pkb.1	+	31	5235	c.4850T>G	c.(4849-4851)cTt>cGt	p.L1617R	ATM_uc009yxr.1_Missense_Mutation_p.L1617R|ATM_uc001pke.2_Missense_Mutation_p.L269R|ATM_uc001pkf.3_3'UTR|ATM_uc001pkg.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1617					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.E1612_Q1620>*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTAAAGGATCTTCGAAGACAA	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			45	69					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97235320	97235320	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:97235320T>C	uc001drq.3	+	3	423	c.177T>C	c.(175-177)cgT>cgC	p.R59R	PTBP2_uc001drn.2_Silent_p.R59R|PTBP2_uc001dro.2_Silent_p.R59R|PTBP2_uc010otz.1_Silent_p.R70R|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Silent_p.R7R|PTBP2_uc001drr.3_Silent_p.R59R|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Silent_p.R59R	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	59	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTCCTTCTCGTGTACTTCATA	0.343000													45	72					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135811796	135811796	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135811796T>C	uc003qgi.3	-	4	484	c.100A>G	c.(100-102)Aag>Gag	p.K34E	AHI1_uc003qgh.3_Missense_Mutation_p.K34E|AHI1_uc003qgj.3_Missense_Mutation_p.K34E|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.K34E	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	34						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGTTTTTTCTTCAGTTTTTTC	0.348000													39	96					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165043	87165043	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:87165043A>G	uc003ydp.1	+	8	961	c.892_splice	c.e8-2	p.V298_splice		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	298					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTCTTTCCTCAGGTACAAATG	0.358000													106	68					0	0	1	0	0
C3orf39	84892	broad.mit.edu	37	3	43122426	43122426	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:43122426G>A	uc003cmr.1	-	1	841	c.498C>T	c.(496-498)caC>caT	p.H166H	C3orf39_uc003cmq.1_Silent_p.H166H|C3orf39_uc021wwn.1_Silent_p.H166H	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	166						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CATGAAAGACGTGCATGAGGT	0.642000													42	62					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997961	144997961	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144997961G>A	uc003zaf.1	-	30	6717	c.6547C>T	c.(6547-6549)Cgg>Tgg	p.R2183W	PLEC_uc003zab.1_Missense_Mutation_p.R2046W|PLEC_uc003zac.1_Missense_Mutation_p.R2050W|PLEC_uc003zad.2_Missense_Mutation_p.R2046W|PLEC_uc003zae.1_Missense_Mutation_p.R2014W|PLEC_uc003zag.1_Missense_Mutation_p.R2024W|PLEC_uc003zah.2_Missense_Mutation_p.R2032W|PLEC_uc003zaj.2_Missense_Mutation_p.R2073W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2183	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGCAGCCGCTTCTGGGCG	0.701000													5	19					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45879420	45879420	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:45879420T>C	uc003cox.1	-	2	266	c.128_splice	c.e2+1	p.R43_splice	LZTFL1_uc003coy.1_Splice_Site_p.R26_splice|LZTFL1_uc011bak.1_Intron	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	43										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTCTGATACCTGCTCTCCTTG	0.438000													37	45					0	0	1	0	0
UBE2G1	7326	broad.mit.edu	37	17	4200057	4200057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4200057G>A	uc002fxs.3	-	2	560	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_003342	NP_003333	P62253	UB2G1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2G 1 (UBE2G1), mRNA.	68					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R68R(2)		large_intestine(2)|lung(4)|skin(1)	7						TTAGGAGGTCGGAGGGGATAA	0.353000													101	170					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48284175	48284175	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:48284175T>C	uc003toq.2	+	10	1289	c.1265T>C	c.(1264-1266)tTa>tCa	p.L422S	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	422					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCCTCAGATTACAGCATCTG	0.393000													12	23					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83239262	83239262	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:83239262C>A	uc003kio.1	-	10	1838	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	EDIL3_uc003kip.1_Silent_p.L463L	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	473	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCAGCCCAGCAGCTCTGACC	0.483000													25	50					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91163163	91163163	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:91163163G>A	uc001kgi.3	+	1	1279	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Missense_Mutation_p.M377I|IFIT1_uc001kgj.3_Missense_Mutation_p.M346I	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	377					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAACAATGCAAGACATAC	0.338000													48	25					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86990793	86990793	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:86990793T>C	uc003uiu.3	+	5	657	c.412T>C	c.(412-414)Ttt>Ctt	p.F138L	CROT_uc003uit.3_Missense_Mutation_p.F110L	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	110					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGCAGCTCATTTTGAACACTA	0.418000													43	67					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312497	86312497	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:86312497C>T	uc002bly.3	-	1	748	c.545G>A	c.(544-546)aGc>aAc	p.S182N	KLHL25_uc021stw.1_Missense_Mutation_p.S182N	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	182						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAAGTCCTCGCTCTGCCTCAC	0.617000													30	36					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102659	81102659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:81102659C>T	uc001szf.2	+	2	740	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	217					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAGTAGCCTTCGATGCCTTTC	0.527000													58	51					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48848477	48848477	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:48848477C>T	uc002pix.1	-	3	513	c.504G>A	c.(502-504)ccG>ccA	p.P168P	TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Intron|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_5'UTR|TMEM143_uc002piy.1_Silent_p.P133P|TMEM143_uc010xzp.1_Intron|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	168						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCTCAGACAGCGGGGAGAAGT	0.622000													67	96					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65110488	65110488	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65110488C>A	uc002ant.2	-	9	1562	c.1496G>T	c.(1495-1497)gGg>gTg	p.G499V	PIF1_uc002anr.2_Missense_Mutation_p.G47V|PIF1_uc002ans.2_Missense_Mutation_p.G190V|PIF1_uc010uiq.1_Missense_Mutation_p.G499V	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	499	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AACTACCACCCCTCGGGCACC	0.612000													24	49					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5131092	5131092	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5131092G>A	uc010xim.2	+	11	1531	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R	KDM4B_uc002mbq.4_Missense_Mutation_p.G441R|KDM4B_uc002mbr.4_Missense_Mutation_p.G199R	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	441	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACAGAGGACGGGAGGGGCAA	0.652000													6	8					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9964925	9964925	+	Silent	SNP	G	G	A	rs139281596	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:9964925G>A	uc002mmp.3	-	5	1330	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	434	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCTGGTGGCCGTTGTTCCAGG	0.602000													52	61					0	0	1	0	0
FAM176B	55194	broad.mit.edu	37	1	36788049	36788049	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:36788049C>A	uc001caj.1	-	2	637	c.345G>T	c.(343-345)tcG>tcT	p.S115S	SH3D21_uc010oic.1_Non-coding_Transcript|FAM176B_uc001cai.1_Silent_p.S115S	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN	Homo sapiens family with sequence similarity 176, member B (FAM176B), mRNA.	115						integral to membrane				lung(1)|pancreas(1)	2						GCTCCTCCGCCGACGTGAAGA	0.731000													21	25					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137339501	137339501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:137339501C>A	uc003vtt.3	-	4	716	c.715G>T	c.(715-717)Gga>Tga	p.G239*	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	239					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTGAGCCTCCTTCTCGAAAT	0.338000													21	36					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926863	130926863	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:130926863G>A	uc001uil.2	-	7	1199	c.983C>T	c.(982-984)aCg>aTg	p.T328M	RIMBP2_uc001uim.3_Missense_Mutation_p.T236M	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	328	Fibronectin type-III 1.					cell junction|synapse		p.T328T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTGCTCACCGTTCCCCATCC	0.562000													54	67					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141334145	141334145	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:141334145C>A	uc011chi.2	-	2	306	c.88G>T	c.(88-90)Gac>Tac	p.D30Y	CLGN_uc003iii.3_Missense_Mutation_p.D30Y	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	30					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.D30N(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCTTCAAAGTCTTCCGTCTCA	0.328000													11	31					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998670	99998670	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:99998670G>A	uc003uut.3	-	17	2162	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G	ZCWPW1_uc011kjq.2_Silent_p.G518G|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Silent_p.G467G|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	638							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAAGTCCTCGCCATCACTGT	0.597000													15	31					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964971	40964971	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:40964971T>A	uc003jmh.3	+	13	1992	c.1878T>A	c.(1876-1878)tgT>tgA	p.C626*	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	626	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAATGCATTGTCAGAGTGAGT	0.398000													59	98					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33095253	33095253	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:33095253G>A	uc002ntn.1	-	24	2727	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	857					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.F857F(2)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCTCTACCACGAAGACGTGCT	0.557000													23	25					0	0	1	0	0
FLT3LG	2323	broad.mit.edu	37	19	49982287	49982287	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49982287A>T	uc002pnu.3	+	5	574	c.464A>T	c.(463-465)gAg>gTg	p.E155V	FLT3LG_uc002pnw.3_Missense_Mutation_p.E73V|FLT3LG_uc010yau.2_Missense_Mutation_p.E155V|FLT3LG_uc002pnv.3_Missense_Mutation_p.E73V|FLT3LG_uc002pnx.3_Missense_Mutation_p.E155V|FLT3LG_uc010yav.2_Missense_Mutation_p.E73V	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	155					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGGTGCCTGGAGCTGCAGTGT	0.647000													8	11					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33630351	33630351	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33630351C>T	uc021ywr.1	+	7	982	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	253	MIR 3.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AAGTTCCTGACGTGTGACGAG	0.632000													25	18					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71491650	71491650	+	Silent	SNP	C	C	T	rs143726902	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:71491650C>T	uc004agu.3	+	5	563	c.258C>T	c.(256-258)taC>taT	p.Y86Y	PIP5K1B_uc011lrq.2_Silent_p.Y86Y|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	86	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTAAGACATACGCTCCATTAG	0.373000													28	36					0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:6257785delT	uc001amd.3	-	1	90	c.44delA	c.(43-45)aagfs	p.K15fs	RPL22_uc001ame.3_Frame_Shift_Del_p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN	Homo sapiens ribosomal protein L22 (RPL22), mRNA.	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|structural constituent of ribosome	p.K15fs*5(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""								16	22	---	---	---	---					
ERRFI1	54206	broad.mit.edu	37	1	8074168	8074169	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8074168_8074169delAG	uc001aoz.3	-	3	739_740	c.490_491delCT	c.(490-492)ctgfs	p.L164fs	ERRFI1_uc001apa.1_Frame_Shift_Del_p.L89fs	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	164					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGTCATCCAGAGAGAGGGCT	0.475													53	70	---	---	---	---					
SPSB1	80176	broad.mit.edu	37	1	9416315	9416315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:9416315delC	uc010oae.2	+	1	704	c.365delC	c.(364-366)gccfs	p.A122fs	SPSB1_uc001apv.3_Frame_Shift_Del_p.A122fs	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	122	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGCAGACGCCCCCCTGCAC	0.657													40	63	---	---	---	---					
DNAJC16	23341	broad.mit.edu	37	1	15873320	15873321	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:15873320_15873321delAT	uc001aws.3	+	5	938_939	c.818_819delAT	c.(817-819)catfs	p.H273fs	DNAJC16_uc001awr.1_Frame_Shift_Del_p.H273fs|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	273					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AATAAGCCTCATGTCCTTCTGT	0.327													43	83	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43909340	43909340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:43909340delC	uc001cjk.2	+	60	8611	c.6001delC	c.(6001-6003)cccfs	p.P2001fs	SZT2_uc001cjl.2_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2900						peroxisome		p.S2000S(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGATGTGTCGCCCCCGGGAGC	0.577													60	115	---	---	---	---					
C8A	731	broad.mit.edu	37	1	57373743	57373743	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57373743delG	uc001cyo.2	+	8	1469	c.1337delG	c.(1336-1338)tggfs	p.W446fs		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	446	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TACCGTTCCTGGGGGAGGTCA	0.483													41	43	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57537235delT	uc009vzx.1	-	5	838	c.518delA	c.(517-519)aagfs	p.K173fs	DAB1_uc001cyt.1_Frame_Shift_Del_p.K173fs|DAB1_uc001cyq.1_Frame_Shift_Del_p.K173fs|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Frame_Shift_Del_p.K173fs|DAB1_uc001cys.1_Frame_Shift_Del_p.K173fs	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	173	PID.				cell differentiation|nervous system development			p.K173K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393													18	44	---	---	---	---					
NEXN	91624	broad.mit.edu	37	1	78408251	78408251	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:78408251delA	uc001dic.4	+	12	2062	c.1765delA	c.(1765-1767)aaafs	p.K589fs	NEXN_uc001dib.4_Frame_Shift_Del_p.K525fs|NEXN_uc001did.1_Frame_Shift_Del_p.K499fs|NEXN_uc001dif.1_Frame_Shift_Del_p.K481fs|NEXN_uc001dig.4_Frame_Shift_Del_p.K230fs	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	589	Ig-like.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGCCTCTTAAAAACACATC	0.438													33	57	---	---	---	---					
HFM1	164045	broad.mit.edu	37	1	91845795	91845796	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:91845795_91845796insA	uc001doa.4	-	8	973	c.874_splice	c.e8-1	p.L292_splice	HFM1_uc010osu.2_Splice_Site|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Splice_Site_p.L292_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	292	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTAAAGAAGCTAAAAAATAAAA	0.282													22	49	---	---	---	---					
KCNC4	3749	broad.mit.edu	37	1	110768879	110768879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:110768879delC	uc009wfr.3	+	2	2684	c.1898delC	c.(1897-1899)tccfs	p.S633fs	KCNC4_uc001dzh.3_Intron|KCNC4_uc001dzi.3_Intron|KCNC4_uc001dzg.3_Intron	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	524					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCCTGAGGTCCCCCCCTCCC	0.612													6	13	---	---	---	---					
PI4KB	5298	broad.mit.edu	37	1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151265430_151265432delCTC	uc001exr.3	-	12	3022_3024	c.2383_2385delGAG	c.(2383-2385)gagdel	p.E795del	PI4KB_uc001exs.3_In_Frame_Del_p.E768del|PI4KB_uc001exu.3_In_Frame_Del_p.E768del|PI4KB_uc010pcw.2_In_Frame_Del_p.E451del|PI4KB_uc001ext.3_In_Frame_Del_p.E783del	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	783					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCAGCTGCTCCTCAGTCATG	0.542													38	55	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152082957_152082959delCTC	uc009wne.1	-	2	3006_3008	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del	TCHH_uc001ezp.2_In_Frame_Del_p.E912del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													7	286	---	---	---	---					
CRTC2	200186	broad.mit.edu	37	1	153923897	153923898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153923897_153923898insG	uc021pab.1	-	10	1401_1402	c.1242_1243insC	c.(1240-1245)ccctctfs	p.P414fs	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	414					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGGTAAGAGGGGGCGCCCA	0.673													10	18	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:156642804delG	uc001fpq.3	-	3	1309	c.1176delC	c.(1174-1176)cccfs	p.P392fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	392	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597													126	205	---	---	---	---					
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:231131567delA	uc009xfl.1	+	3	539	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_uc001huh.3_Frame_Shift_Del_p.A170fs	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	Homo sapiens ARV1 homolog (S. cerevisiae) (ARV1), mRNA.	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													33	43	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11332603	11332603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:11332603delT	uc002rbd.1	-	30	4372	c.3923delA	c.(3922-3924)aagfs	p.K1308fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1308	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AATCTCCTCCTTTTTGTCCAT	0.388													34	64	---	---	---	---					
RAD51AP2	729475	broad.mit.edu	37	2	17698825	17698825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:17698825delT	uc002rcl.1	-	0	882	c.858delA	c.(856-858)aaafs	p.K286fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.K277fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	286										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATATGCCTCTTTTTTGTCAT	0.353													17	31	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452260	43452260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43452260delC	uc002rsv.4	-	1	974	c.683delG	c.(682-684)ggcfs	p.G228fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	228					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCCGGAggcgccccccgacgg	0.706													16	31	---	---	---	---					
ASPRV1	151516	broad.mit.edu	37	2	70188284	70188284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70188284delG	uc002sfz.4	-	0	1114	c.537delC	c.(535-537)cccfs	p.P179fs		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	179					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.P179P(2)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCAGGTGGCTGGGGGCAGCCC	0.587													51	48	---	---	---	---					
C2orf42	54980	broad.mit.edu	37	2	70392681	70392682	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70392681_70392682insT	uc002sgh.3	-	6	1558_1559	c.1230_1231insA	c.(1228-1233)aaacggfs	p.K410fs		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	410										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGGGGAGCCGTTTTTTTGCAC	0.406													29	57	---	---	---	---					
FBXO41	150726	broad.mit.edu	37	2	73490910	73490910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73490910delC	uc021vjh.1	-	6	2061	c.1971delG	c.(1969-1971)gggfs	p.G657fs		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	657						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCAGCAGGTTCCCCCCAGCTG	0.637													13	102	---	---	---	---					
SEPT10	151011	broad.mit.edu	37	2	110301827	110301828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:110301827_110301828insT	uc002tey.3	-	11	1885_1886	c.1506_1507insA	c.(1504-1509)aaactafs	p.K502fs	SEPT10_uc010ywu.1_3'UTR|SEPT10_uc002tew.3_3'UTR|SEPT10_uc002tex.3_3'UTR|SEPT10_uc010ywv.2_3'UTR|SEPT10_uc002tev.1_3'UTR|SEPT10_uc010fjo.3_Non-coding_Transcript	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CACACTTCTAGTTTTTTTTTAA	0.317													20	28	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133543031	133543031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133543031delG	uc002ttp.3	-	13	1727	c.1353delC	c.(1351-1353)cccfs	p.P451fs	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	451							protein binding	p.C452fs*21(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGTTTTGCAGGGGGGATACT	0.463													24	21	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-	rs139457585		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136409480_136409482delCCT	uc002tuo.3	+	16	2171_2173	c.1801_1803delCCT	c.(1801-1803)cctdel	p.P605del	R3HDM1_uc010fni.3_In_Frame_Del_p.P604del|R3HDM1_uc002tup.3_In_Frame_Del_p.P550del|R3HDM1_uc010zbh.2_In_Frame_Del_p.P353del	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	605	Poly-Pro.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586													38	71	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141819647	141819648	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:141819647_141819648insT	uc002tvj.1	-	7	2180_2181	c.1208_1209insA	c.(1207-1209)aatfs	p.N403fs	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	403					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGTGTCTATTTTTTCCTTG	0.391										TSP Lung(27;0.18)			35	78	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165350964	165350964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:165350964delT	uc002ucl.3	-	12	1994	c.1453delA	c.(1453-1455)atafs	p.I485fs	GRB14_uc010zcv.2_Frame_Shift_Del_p.I398fs	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	485	SH2.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGTGCTTTATTTTTTGTCCA	0.333													26	48	---	---	---	---					
DFNB59	494513	broad.mit.edu	37	2	179325760	179325760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179325760delT	uc002umi.4	+	6	1174	c.818delT	c.(817-819)cttfs	p.L273fs	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Frame_Shift_Del_p.L273fs	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	273					sensory perception of sound			p.L273P(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTGGATGATCTTTTTTCTGAC	0.348													20	153	---	---	---	---					
CALCRL	10203	broad.mit.edu	37	2	188250275	188250275	+	Frame_Shift_Del	DEL	A	A	-	rs13391909	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:188250275delA	uc010frt.3	-	2	431	c.48delT	c.(46-48)tttfs	p.F16fs	CALCRL_uc002upv.4_Frame_Shift_Del_p.F16fs	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	16			F -> L (in dbSNP:rs13391909).			integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGCTTACCATAAAAAAAGGCA	0.274													10	12	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T	rs34468832		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196788373_196788374insT	uc002utj.4	-	22	3871_3872	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCGCTAATATTTTTTTTTAC	0.421													21	46	---	---	---	---					
BZW1	9689	broad.mit.edu	37	2	201683505	201683505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:201683505delA	uc010zhg.2	+	8	1018	c.943delA	c.(943-945)aaafs	p.K315fs	BZW1_uc002uwc.3_Frame_Shift_Del_p.K283fs|BZW1_uc021vus.1_Frame_Shift_Del_p.K287fs	NM_001207068	NP_001193997	Q7L1Q6	BZW1_HUMAN	Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA.	283	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGAGGAGATGAAAAAAAACAA	0.368													20	43	---	---	---	---					
ORC2	4999	broad.mit.edu	37	2	201785020	201785021	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:201785020_201785021delAG	uc002uwr.3	-	14	1661_1662	c.1390_1391delCT	c.(1390-1392)cttfs	p.L464fs		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	464					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTTTACCAGAAGAGAGTTCTCA	0.426													31	60	---	---	---	---					
GPR1	2825	broad.mit.edu	37	2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:207041592delA	uc021vvl.1	-	0	380	c.380delT	c.(379-381)ttcfs	p.F127fs	GPR1_uc002vbl.4_Frame_Shift_Del_p.F127fs|GPR1_uc010fue.3_Frame_Shift_Del_p.F127fs|GPR1_uc010fuf.3_Frame_Shift_Del_p.F127fs	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CACTGTCAGGAAAAAAACACT	0.458													55	67	---	---	---	---					
SP110	3431	broad.mit.edu	37	2	231072718	231072718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:231072718delT	uc002vqg.3	-	7	1126	c.886delA	c.(886-888)agcfs	p.S296fs	SP110_uc002vqh.3_Frame_Shift_Del_p.S296fs|SP110_uc002vqi.4_Frame_Shift_Del_p.S296fs|SP110_uc010fxk.3_Frame_Shift_Del_p.S296fs|SP110_uc021vxx.1_Frame_Shift_Del_p.S302fs|SP110_uc010fxj.3_5'UTR	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	296					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCTGGGAGGCTTTTTTTCTTA	0.393													3	6	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1371501	1371501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:1371501delA	uc003boz.3	+	10	1513	c.1246delA	c.(1246-1248)aaafs	p.K416fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.K344fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.K416fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	416	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGTCCAGTTAAAAAAAAGTC	0.393													24	45	---	---	---	---					
SEMA3B	7869	broad.mit.edu	37	3	50311871	50311871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:50311871delC	uc003cyu.3	+	12	1454	c.1212delC	c.(1210-1212)cacfs	p.H404fs	SEMA3B_uc003cyt.3_Frame_Shift_Del_p.H403fs|SEMA3B_uc003cyv.3_Frame_Shift_Del_p.H292fs|SEMA3B_uc003cyw.3_Frame_Shift_Del_p.H128fs|SEMA3B_uc010hli.3_Frame_Shift_Del_p.H297fs|SEMA3B_uc003cyx.3_Frame_Shift_Del_p.H291fs|SEMA3B_uc003cyy.3_Frame_Shift_Del_p.H62fs|SEMA3B_uc011bdo.2_Frame_Shift_Del_p.H62fs	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	405	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCGGAACCACCCCCTCATGT	0.587											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	120	---	---	---	---					
COL8A1	1295	broad.mit.edu	37	3	99513775	99513775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:99513775delC	uc003dti.1	+	2	1161	c.1033delC	c.(1033-1035)cccfs	p.P345fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.P344fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.P344fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	344	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCTACCAGGACCCCCAGGCCT	0.622													23	36	---	---	---	---					
CCDC80	151887	broad.mit.edu	37	3	112357095	112357095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112357095delT	uc003dzf.3	-	1	1876	c.1658delA	c.(1657-1659)aagfs	p.K553fs	CCDC80_uc011bhv.2_Frame_Shift_Del_p.K553fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.K553fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.K553fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	553	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						attcttcatcttttttttctt	0.398													12	29	---	---	---	---					
MCM2	4171	broad.mit.edu	37	3	127323896	127323896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127323896delC	uc003ejp.3	+	3	627	c.570delC	c.(568-570)ggcfs	p.G190fs	MCM2_uc011bkm.2_Frame_Shift_Del_p.G60fs|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Frame_Shift_Del_p.G74fs	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	190	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GCATGGCGGGCCCCCGGCTGG	0.622													38	97	---	---	---	---					
IFT122	55764	broad.mit.edu	37	3	129207227	129207227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:129207227delA	uc003eml.3	+	16	2338	c.2132delA	c.(2131-2133)gaafs	p.E711fs	IFT122_uc003emm.3_Frame_Shift_Del_p.E660fs|IFT122_uc003emn.3_Frame_Shift_Del_p.E601fs|IFT122_uc003emo.3_Frame_Shift_Del_p.E549fs|IFT122_uc003emp.3_Frame_Shift_Del_p.E510fs|IFT122_uc010htc.3_Frame_Shift_Del_p.E652fs|IFT122_uc011bky.2_Frame_Shift_Del_p.E451fs|IFT122_uc011bla.2_Frame_Shift_Del_p.E451fs|IFT122_uc003emr.3_Frame_Shift_Del_p.E451fs|IFT122_uc010hte.3_Frame_Shift_Del_p.E40fs|IFT122_uc003ems.3_Frame_Shift_Del_p.E59fs|IFT122_uc011bkx.1_Frame_Shift_Del_p.E500fs|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Frame_Shift_Del_p.E139fs	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	660					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTAGATTTTGAAACAGCAAAG	0.522													29	48	---	---	---	---					
ASTE1	28990	broad.mit.edu	37	3	130743461	130743461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:130743461delG	uc010htm.1	-	2	897	c.690delC	c.(688-690)cccfs	p.P230fs	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Frame_Shift_Del_p.P230fs|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	230					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TCTCCATGATGGGTAGATTAA	0.448													28	92	---	---	---	---					
SLC35G2	80723	broad.mit.edu	37	3	136573486	136573486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:136573486delA	uc003erf.4	+	1	398	c.184delA	c.(184-186)aaafs	p.K62fs	SLC35G2_uc003erg.4_Frame_Shift_Del_p.K62fs|SLC35G2_uc010hub.3_Frame_Shift_Del_p.K62fs|SLC35G2_uc021xem.1_Frame_Shift_Del_p.K62fs	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	62						Golgi apparatus|integral to membrane											GAGTGAAATGAAAAAAAAAGG	0.413													7	173	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141499234	141499234	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:141499234delA	uc011bnd.2	+	1	715	c.631delA	c.(631-633)aaafs	p.K211fs		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	211	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGTCCAGGTGAAAAACACTGG	0.458													17	25	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:79238582_79238583insC	uc003hlb.2	+	16	2320_2321	c.1880_1881insC	c.(1879-1881)agcfs	p.S627fs	FRAS1_uc003hkw.3_Frame_Shift_Ins_p.S627fs|FRAS1_uc003hky.1_Frame_Shift_Ins_p.S331fs|FRAS1_uc003hkz.3_Frame_Shift_Ins_p.S331fs|FRAS1_uc003hla.1_Frame_Shift_Ins_p.S138fs	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													47	59	---	---	---	---					
INTS12	57117	broad.mit.edu	37	4	106604358	106604360	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:106604358_106604360delTGT	uc003hxw.3	-	7	1177_1179	c.919_921delACA	c.(919-921)acadel	p.T307del	INTS12_uc010ilr.3_In_Frame_Del_p.T307del	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	307	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAATTTTGCTGTTGAAGGACCA	0.458													42	67	---	---	---	---					
LRBA	987	broad.mit.edu	37	4	151749479	151749479	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:151749479delT	uc010ipj.3	-	29	5268	c.5024delA	c.(5023-5025)aacfs	p.N1675fs	LRBA_uc003ilt.4_Frame_Shift_Del_p.N334fs|LRBA_uc003ilu.4_Frame_Shift_Del_p.N1675fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1675						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACATTGACGTTTTTTGAAAC	0.448													30	67	---	---	---	---					
FBXO8	26269	broad.mit.edu	37	4	175160263	175160263	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:175160263delA	uc003itp.3	-	4	1504	c.654delT	c.(652-654)tttfs	p.F218fs	FBXO8_uc003itq.3_Frame_Shift_Del_p.F177fs	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	218	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GGATATGACGAAAAAATTCTC	0.388													24	35	---	---	---	---					
SREK1IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:64023941delT	uc003jtk.3	-	3	423	c.271delA	c.(271-273)aggfs	p.R91fs		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	Homo sapiens SREK1-interacting protein 1 (SREK1IP1), mRNA.	91	Lys-rich.				RNA splicing|mRNA processing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264													6	1	---	---	---	---					
SLCO4C1	353189	broad.mit.edu	37	5	101627312	101627313	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:101627312_101627313insA	uc003knm.3	-	2	643	c.356_splice	c.e2-1	p.G119_splice		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	119					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CTACAATACCTAAAAAACAGAA	0.312													18	28	---	---	---	---					
WDR55	54853	broad.mit.edu	37	5	140049102	140049102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140049102delA	uc003lgr.4	+	6	1129	c.1015delA	c.(1015-1017)aaafs	p.K339fs	WDR55_uc011czl.1_3'UTR	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	Homo sapiens WD repeat domain 55 (WDR55), mRNA.	339					rRNA processing	cytoplasm|nucleolus		p.K341fs*8(1)|p.R338H(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCGGCGCAAAAAAAAGGG	0.592													19	20	---	---	---	---					
PCDHB14	56122	broad.mit.edu	37	5	140604308	140604309	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140604308_140604309delAG	uc003ljb.3	+	0	1231_1232	c.1231_1232delAG	c.(1231-1233)agafs	p.R411fs		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	411	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACTGGACAGAGAGAGCCAA	0.470													105	115	---	---	---	---					
TUBB2B	347733	broad.mit.edu	37	6	3225652	3225653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:3225652_3225653insC	uc003mvg.3	-	3	861_862	c.670_671insG	c.(670-672)gacfs	p.D224fs	TUBB2A_uc011dhu.1_Non-coding_Transcript	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA.	224					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTGGTTGAGGTCCCCGTAGGTG	0.614													44	53	---	---	---	---					
RREB1	6239	broad.mit.edu	37	6	7247181	7247181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:7247181delC	uc003mxb.3	+	11	4990	c.4498delC	c.(4498-4500)cccfs	p.P1500fs	RREB1_uc021yky.1_Frame_Shift_Del_p.P1445fs|RREB1_uc003mxc.3_Frame_Shift_Del_p.P1445fs|RREB1_uc010jnx.3_Intron|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1445					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.P1500L(1)|p.S1499Y(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAGGAGAAGCCCCCCGAGAC	0.746													11	3	---	---	---	---					
DSP	1832	broad.mit.edu	37	6	7583793	7583793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:7583793delT	uc003mxp.1	+	23	6577	c.6298delT	c.(6298-6300)tttfs	p.F2100fs	DSP_uc003mxq.1_Frame_Shift_Del_p.F1501fs|DSP_uc021yle.1_Frame_Shift_Del_p.F1657fs	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2100	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGATCCATTTTCAGGCAA	0.468													225	156	---	---	---	---					
C6orf10	10665	broad.mit.edu	37	6	32261771	32261772	+	Frame_Shift_Ins	INS	-	-	T	rs560505	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32261771_32261772insT	uc021yvt.1	-	22	851_852	c.678_679insA	c.(676-681)aaatctfs	p.K226fs	C6orf10_uc011dpx.2_Frame_Shift_Ins_p.K217fs|C6orf10_uc021yvs.1_Frame_Shift_Ins_p.K143fs|C6orf10_uc011dpz.2_Frame_Shift_Ins_p.K224fs|C6orf10_uc021yvu.1_Frame_Shift_Ins_p.K224fs|C6orf10_uc021yvv.1_Frame_Shift_Ins_p.K210fs	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	226						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGGAACAAGATTTTTTTGCAA	0.337													61	58	---	---	---	---					
PHIP	55023	broad.mit.edu	37	6	79711725	79711726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:79711725_79711726insA	uc011dyp.2	-	16	1995_1996	c.1769_1770insT	c.(1768-1770)ttgfs	p.L590fs	PHIP_uc003pir.3_Frame_Shift_Ins_p.L590fs	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	590					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CAACATCAACCAAAAAAGGGGG	0.426													38	95	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87970974	87970974	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:87970974delA	uc003plm.4	+	7	7668	c.7627delA	c.(7627-7629)aaafs	p.K2543fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCACAAAATAAAAAAAGGAA	0.358													37	40	---	---	---	---					
EZR	7430	broad.mit.edu	37	6	159188477	159188477	+	Frame_Shift_Del	DEL	G	G	-	rs139613796		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:159188477delG	uc003qrt.4	-	11	1627	c.1412delC	c.(1411-1413)ccgfs	p.P471fs	MIR3918_uc021zho.1_5'Flank|EZR_uc011efr.2_Frame_Shift_Del_p.P78fs|EZR_uc011efs.2_Frame_Shift_Del_p.P439fs|EZR_uc003qru.4_Frame_Shift_Del_p.P471fs	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	471	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGTGGGGGCGGGGGTGCTGT	0.597			T	ROS1	NSCLC								100	84	---	---	---	---					
ANLN	54443	broad.mit.edu	37	7	36461586	36461588	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:36461586_36461588delCTT	uc003tff.3	+	12	2488_2490	c.2284_2286delCTT	c.(2284-2286)cttdel	p.L764del	ANLN_uc011kaz.2_In_Frame_Del_p.L676del|ANLN_uc003tfg.3_In_Frame_Del_p.L727del|ANLN_uc010kxe.3_In_Frame_Del_p.L726del	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	764	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAGAAAGACTTCTTCTAATTG	0.379													37	53	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102852609	102852609	+	Splice_Site	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:102852609delT	uc003vbh.4	-	18	3154	c.963_splice	c.e18+1	p.K321_splice	DPY19L2P2_uc003vbg.4_Splice_Site|DPY19L2P2_uc010lit.3_Splice_Site					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		TAAAAATACCTTTTTAAAGAT	0.259													3	3	---	---	---	---					
BRAF	673	broad.mit.edu	37	7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:140482927delG	uc003vwc.4	-	9	1269	c.1208delC	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAATGAGGCAGGGGGGGTAGC	0.428		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	33	---	---	---	---					
CHPF2	54480	broad.mit.edu	37	7	150935414	150935415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150935414_150935415insG	uc003wjr.1	+	3	3479_3480	c.1966_1967insG	c.(1966-1968)cggfs	p.R656fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.R648fs|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	656	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGACCCCTCCCGGGGGGCTCCT	0.678													16	20	---	---	---	---					
MLL3	58508	broad.mit.edu	37	7	151873588	151873588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151873588delA	uc003wla.3	-	37	9169	c.8950delT	c.(8950-8952)tctfs	p.S2984fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.S2045fs|MLL3_uc003wky.3_Frame_Shift_Del_p.S493fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2984					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACACCCTGAGAAAAAACATGG	0.473			N		medulloblastoma								30	27	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:6289099delA	uc003wqi.3	+	3	389	c.313delA	c.(313-315)aaafs	p.K105fs	MCPH1_uc003wqh.3_Frame_Shift_Del_p.K105fs|MCPH1_uc011kwl.2_Frame_Shift_Del_p.K105fs	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	105						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													103	67	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18729144	18729145	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:18729144_18729145insTC	uc003wza.3	-	2	1332_1333	c.1229_1230insGA	c.(1228-1230)gacfs	p.D410fs		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	410					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTTCCCTGTCTCTCTCTGG	0.450													77	64	---	---	---	---					
GSR	2936	broad.mit.edu	37	8	30539472	30539473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30539472_30539473insG	uc003xih.2	-	10	1393_1394	c.1259_1260insC	c.(1258-1260)cctfs	p.P420fs	GSR_uc022ato.1_Frame_Shift_Ins_p.P367fs|GSR_uc022atp.1_Frame_Shift_Ins_p.P391fs|GSR_uc022atq.1_Frame_Shift_Ins_p.P338fs	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	420					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CTGTCCCAATAGGGGGGTGGCT	0.441													26	126	---	---	---	---					
ADAM32	203102	broad.mit.edu	37	8	39068767	39068767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:39068767delA	uc003xmt.4	+	11	1402	c.1157delA	c.(1156-1158)caafs	p.Q386fs	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	386					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CCACAAATGCAAAAAAAATCT	0.383													10	31	---	---	---	---					
AP3M2	10947	broad.mit.edu	37	8	42022614	42022614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42022614delG	uc003xop.3	+	5	900	c.609delG	c.(607-609)cagfs	p.Q203fs	AP3M2_uc003xoo.3_Frame_Shift_Del_p.Q203fs|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_Frame_Shift_Del_p.Q88fs	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	203	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTGAGATCCAGGGGGTGATTG	0.443													19	89	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48701554_48701555insT	uc003xqi.3	-	76	10868_10869	c.10811_10812insA	c.(10810-10812)aacfs	p.N3604fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.N3604fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3605					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining					22	121	---	---	---	---					
SOX17	64321	broad.mit.edu	37	8	55371765	55371766	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:55371765_55371766insG	uc003xsb.4	+	1	659_660	c.455_456insG	c.(454-456)gagfs	p.E152fs		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	152					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AAGCGGGTGGAGGGCGGCTTCC	0.743													21	7	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61778453	61778454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:61778453_61778454insG	uc003xue.3	+	37	9447_9448	c.8955_8956insG	c.(8953-8958)gatgggfs	p.D2985fs	CHD7_uc022aux.1_Frame_Shift_Ins_p.D936fs	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2985					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACTCACTTGATGGGGGGGATGA	0.446													18	16	---	---	---	---					
NCOA2	10499	broad.mit.edu	37	8	71056964	71056964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:71056964delT	uc003xyn.1	-	12	2887	c.2725delA	c.(2725-2727)agtfs	p.S909fs	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	909					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGTAGGGACTACTGTTTCTG	0.468			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								43	102	---	---	---	---					
ZFPM2	23414	broad.mit.edu	37	8	106815052	106815052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:106815052delA	uc003ymd.3	+	7	2765	c.2742delA	c.(2740-2742)atafs	p.I914fs	ZFPM2_uc011lhs.2_Frame_Shift_Del_p.I645fs	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	914					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.I914V(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAGCATAATAAAATGTGAGA	0.453													42	20	---	---	---	---					
SNTB1	6641	broad.mit.edu	37	8	121561041	121561041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:121561041delA	uc010mdg.3	-	4	1520	c.1294delT	c.(1294-1296)tgcfs	p.C432fs		NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	432	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GAATTGTGGCAACCCTGTACT	0.507													8	112	---	---	---	---					
SQLE	6713	broad.mit.edu	37	8	126011893	126011893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:126011893delC	uc011liq.2	+	0	1174	c.248delC	c.(247-249)tccfs	p.S83fs		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	83					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGGCCAAATCCCCCCCTGAA	0.547													38	31	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144947314	144947314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144947314delG	uc003zaa.1	-	0	121	c.108delC	c.(106-108)cccfs	p.P36fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	36						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGGGCCTGGGGGGCGTGC	0.697													38	123	---	---	---	---					
ARHGAP39	80728	broad.mit.edu	37	8	145773375	145773375	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:145773375delG	uc003zds.1	-	5	1650	c.1095delC	c.(1093-1095)cccfs	p.P365fs	ARHGAP39_uc011llk.1_Frame_Shift_Del_p.P365fs|ARHGAP39_uc003zdt.1_Frame_Shift_Del_p.P365fs	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	365	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCAGGGCGAGGGGGGGCCCT	0.701													20	51	---	---	---	---					
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:12702411_12702414delACAA	uc003zkv.4	+	4	1232_1235	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.T352fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				14	24	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829843	18829843	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:18829843delC	uc003zne.4	+	22	4269	c.4117delC	c.(4117-4119)cccfs	p.P1373fs	ADAMTSL1_uc003znf.4_Frame_Shift_Del_p.P74fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1373						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCACAGATCCCCCCCAAGT	0.567													36	51	---	---	---	---					
NFX1	4799	broad.mit.edu	37	9	33294897	33294897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33294897delA	uc003zsr.3	+	1	658	c.505delA	c.(505-507)aaafs	p.K169fs	NFX1_uc011lnw.2_Frame_Shift_Del_p.K169fs|NFX1_uc003zso.3_Frame_Shift_Del_p.K169fs|NFX1_uc003zsp.2_Frame_Shift_Del_p.K169fs|NFX1_uc010mjr.2_Frame_Shift_Del_p.K169fs|NFX1_uc003zsq.3_Frame_Shift_Del_p.K169fs	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	169					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGCAAAACCCAAAAAAGCAAC	0.483													31	64	---	---	---	---					
ALDH1A1	216	broad.mit.edu	37	9	75545849	75545849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:75545849delC	uc004ajd.3	-	2	575	c.258delG	c.(256-258)gggfs	p.G86fs	ALDH1A1_uc011lsh.2_Frame_Shift_Del_p.G7fs	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	86					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATAATAGTCGCCCCCTCTCGG	0.498													58	88	---	---	---	---					
FAM75D1	389763	broad.mit.edu	37	9	84607691	84607692	+	Frame_Shift_Ins	INS	-	-	G	rs34942699		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:84607691_84607692insG	uc004amn.3	+	3	2353_2354	c.2306_2307insG	c.(2305-2307)gtgfs	p.V769fs		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	769						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ATGGAGAATGTGGGGAATTATC	0.480													48	48	---	---	---	---					
UGCG	7357	broad.mit.edu	37	9	114695179	114695180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114695179_114695180insT	uc004bft.3	+	8	1377_1378	c.1087_1088insT	c.(1087-1089)attfs	p.I363fs		NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	363					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	p.I363V(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GACAATATACATTTTTTTGTCT	0.401													19	119	---	---	---	---					
VAV2	7410	broad.mit.edu	37	9	136633624	136633626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136633624_136633626delCAC	uc004ces.3	-	28	2573_2575	c.2527_2529delGTG	c.(2527-2529)gtgdel	p.V843del	VAV2_uc004cer.3_In_Frame_Del_p.V804del	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	843	SH3 2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGTAGATCCTCACCACGTCACCC	0.650													36	83	---	---	---	---					
QSOX2	169714	broad.mit.edu	37	9	139107074	139107074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139107074delG	uc010nbi.2	-	9	1324	c.1286delC	c.(1285-1287)ccgfs	p.P429fs		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	429	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GAGAGAACACGGGTAACCCCT	0.458													17	43	---	---	---	---					
NPDC1	56654	broad.mit.edu	37	9	139935633	139935633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139935633delC	uc004cks.2	-	1	1173	c.500delG	c.(499-501)ggcfs	p.G167fs	NPDC1_uc004ckt.2_Frame_Shift_Del_p.G89fs	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	89	Pro/Ser/Thr-rich.					integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CTGGGGCCGGCCCCCGCCTGG	0.687													4	3	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:890939delT	uc001ifs.1	-	4	528	c.487delA	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATTCCAATGTTTTTTTAAGT	0.353													52	64	---	---	---	---					
RBM17	84991	broad.mit.edu	37	10	6139070	6139070	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:6139070delA	uc001ijb.3	+	1	268	c.42delA	c.(40-42)tcafs	p.S14fs	RBM17_uc010qav.2_Frame_Shift_Del_p.S14fs	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	14					RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCAGTGACTCAAAAACAGAAG	0.463													54	127	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24832391	24832391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24832391delG	uc001iru.4	+	18	4595	c.4192delG	c.(4192-4194)gggfs	p.G1398fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Del_p.G1081fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Del_p.G234fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1398					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTTTCCAGTGGGGAGGTGCA	0.458													41	54	---	---	---	---					
ARHGAP21	57584	broad.mit.edu	37	10	24874838	24874838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24874838delT	uc001isb.2	-	25	4867	c.4380delA	c.(4378-4380)aaafs	p.K1460fs	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1459					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTCACTTTCTTTTTTGGACT	0.393													70	129	---	---	---	---					
GPR158	57512	broad.mit.edu	37	10	25861746	25861746	+	Frame_Shift_Del	DEL	G	G	-	rs138208272		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25861746delG	uc001isj.3	+	6	1743	c.1683delG	c.(1681-1683)cagfs	p.Q561fs		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	561						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTATTGGCCAGGGGAAAACAT	0.453													24	41	---	---	---	---					
PTCHD3	374308	broad.mit.edu	37	10	27702951	27702951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:27702951delG	uc001itu.2	-	0	347	c.229delC	c.(229-231)cggfs	p.R77fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	77					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCGACGGCCGGGGGGGTGCA	0.716													7	99	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61831290	61831290	+	Frame_Shift_Del	DEL	T	T	-	rs28932171	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:61831290delT	uc001jky.3	-	36	9687	c.9349delA	c.(9349-9351)atcfs	p.I3117fs	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3117			I -> V (in dbSNP:rs28932171).		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGACTTATGATTTTTTTTACA	0.403													78	187	---	---	---	---					
C10orf54	64115	broad.mit.edu	37	10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:73511467delG	uc001jsd.3	-	5	997	c.856delC	c.(856-858)ctgfs	p.L286fs	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Frame_Shift_Del_p.L154fs	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	286						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGGAGACAGGGGGGTGCTG	0.617													29	72	---	---	---	---					
MYOZ1	58529	broad.mit.edu	37	10	75393728	75393728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75393728delT	uc001jur.3	-	4	963	c.598delA	c.(598-600)atgfs	p.M200fs		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	200					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCAAGTTCCATTTTTTGCTGG	0.517													47	141	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89717674	89717675	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89717674_89717675insC	uc001kfb.3	+	6	1731_1732	c.699_700insC	c.(697-702)cgacggfs	p.R233fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(86)|p.0?(37)|p.R233fs*10(7)|p.R234fs*11(6)|p.R55fs*1(5)|p.R234fs*26(3)|p.R234fs*10(3)|p.R233fs*12(2)|p.R234W(2)|p.R234L(2)|p.R234fs*24(2)|p.R234fs*27(2)|p.R234fs*23(2)|p.R233fs*20(2)|p.R233fs*23(2)|p.R234fs*3(2)|p.R234fs*4(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R234Q(1)|p.(T232)fs(1)|p.G165_K342del(1)|p.T232fs*14(1)|p.R233fs*25(1)|p.R234fs*9(1)|p.?(1)|p.R233R(1)|p.T232fs*24(1)|p.R233fs*13(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCCACACGACGGGAAGACAA	0.416		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			43	112	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:98336475delT	uc001kmm.4	-	1	431	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													66	141	---	---	---	---					
SORCS3	22986	broad.mit.edu	37	10	106976790	106976790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106976790delG	uc001kyi.1	+	18	2871	c.2644delG	c.(2644-2646)gtgfs	p.V882fs	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	882	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCAAGCACGTGTATAAGAG	0.517													32	76	---	---	---	---					
ADRA2A	150	broad.mit.edu	37	10	112837856	112837856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:112837856delG	uc001kzo.3	+	0	1067	c.102delG	c.(100-102)ccgfs	p.P34fs		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	19					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.G22fs*>430(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CCGAggcgccggggggcggcg	0.726													5	10	---	---	---	---					
TCF7L2	6934	broad.mit.edu	37	10	114900983	114900984	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:114900983_114900984insC	uc021pyi.1	+	5	1100_1101	c.593_594insC	c.(592-594)cacfs	p.H198fs	TCF7L2_uc001lah.3_Frame_Shift_Ins_p.H175fs|TCF7L2_uc010qro.2_Frame_Shift_Ins_p.H175fs|TCF7L2_uc001lae.4_Frame_Shift_Ins_p.H198fs|TCF7L2_uc010qrm.2_Frame_Shift_Ins_p.H198fs|TCF7L2_uc010qrn.2_Frame_Shift_Ins_p.H141fs|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Frame_Shift_Ins_p.H175fs|TCF7L2_uc021pyj.1_Frame_Shift_Ins_p.H198fs|TCF7L2_uc021pyk.1_Frame_Shift_Ins_p.H175fs|TCF7L2_uc021pyl.1_Frame_Shift_Ins_p.H175fs|TCF7L2_uc010qrp.2_Frame_Shift_Ins_p.H175fs|TCF7L2_uc021pym.1_Frame_Shift_Ins_p.H175fs|TCF7L2_uc021pyn.1_Frame_Shift_Ins_p.H198fs|TCF7L2_uc021pyo.1_Frame_Shift_Ins_p.H198fs|TCF7L2_uc021pyp.1_Frame_Shift_Ins_p.H198fs|TCF7L2_uc010qrq.2_Frame_Shift_Ins_p.H175fs|TCF7L2_uc001lac.4_Frame_Shift_Ins_p.H175fs|TCF7L2_uc010qrk.2_Frame_Shift_Ins_p.H175fs|TCF7L2_uc001lad.4_Frame_Shift_Ins_p.H175fs|TCF7L2_uc001lag.4_Frame_Shift_Ins_p.H222fs|TCF7L2_uc001laf.4_Frame_Shift_Ins_p.H175fs|TCF7L2_uc010qrl.2_Frame_Shift_Ins_p.H175fs|TCF7L2_uc010qrr.2_Frame_Shift_Ins_p.H117fs|TCF7L2_uc010qrs.2_Frame_Shift_Ins_p.H69fs|TCF7L2_uc010qrt.2_Frame_Shift_Ins_p.H69fs|TCF7L2_uc010qru.2_Frame_Shift_Ins_p.H92fs|TCF7L2_uc010qrv.2_Frame_Shift_Ins_p.H15fs|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Frame_Shift_Ins_p.H55fs	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	198	Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P198fs*107(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CACCATGTCCACCCCCTCACGC	0.569			T	VTI1A	colorectal								43	140	---	---	---	---					
ATRNL1	26033	broad.mit.edu	37	10	117226764	117226765	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:117226764_117226765insA	uc001lcg.3	+	23	3882	c.3496_splice	c.e23+2	p.A1166_splice	ATRNL1_uc010qsm.2_Splice_Site_p.A295_splice|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1166						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTCAACAGGTAAAAAAATGTT	0.287													14	37	---	---	---	---					
RAB11FIP2	22841	broad.mit.edu	37	10	119768725	119768725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:119768725delG	uc001ldj.2	-	4	1763	c.1323delC	c.(1321-1323)cccfs	p.P441fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.P461fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	441	FIP-RBD.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TGGCATCAAAGGGGTTGCTGT	0.428													11	155	---	---	---	---					
PWWP2B	170394	broad.mit.edu	37	10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:134218255delC	uc001lll.4	+	1	280	c.251delC	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGGTCCAGCTCCCCCCCTCCT	0.746													7	123	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46912011	46912011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46912011delG	uc001ndn.4	-	13	1975	c.1732delC	c.(1732-1734)cgtfs	p.R578fs		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	578					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)		GCCTCAATACGGGGGGTGTTG	0.542											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	35	---	---	---	---					
PACSIN3	29763	broad.mit.edu	37	11	47200457	47200457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:47200457delG	uc001ndw.3	-	8	1368	c.1025delC	c.(1024-1026)ccgfs	p.P342fs	ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Frame_Shift_Del_p.P342fs|PACSIN3_uc001ndx.3_Frame_Shift_Del_p.P342fs	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	342					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TGGGGACCCCGGGGACTGGGG	0.602													28	62	---	---	---	---					
OR4C6	219432	broad.mit.edu	37	11	55432816	55432816	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55432816delT	uc010rik.2	+	0	174	c.174delT	c.(172-174)tatfs	p.Y58fs		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M57I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACCTATGTATTTTTTTCTTA	0.423													57	92	---	---	---	---					
DTX4	23220	broad.mit.edu	37	11	58958609	58958609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:58958609delA	uc001nns.2	+	4	1439	c.1182delA	c.(1180-1182)ctafs	p.L394fs	DTX4_uc001nnr.2_Frame_Shift_Del_p.L288fs	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	394					Notch signaling pathway	cytoplasm	zinc ion binding	p.K290fs*34(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGGAAGTGCTAAAAAAATATC	0.502													5	5	---	---	---	---					
INPPL1	3636	broad.mit.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948748delC	uc001osf.3	+	25	3607	c.3460delC	c.(3460-3462)cccfs	p.P1154fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.P912fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1154					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGAGCTGCAGCCCCCCCGGGG	0.697													12	35	---	---	---	---					
INPPL1	3636	broad.mit.edu	37	11	71948755	71948755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948755delG	uc001osf.3	+	25	3614	c.3467delG	c.(3466-3468)cggfs	p.R1156fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.R914fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1156					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCCCCCCCGGGGACTGCCC	0.697													16	29	---	---	---	---					
XRRA1	143570	broad.mit.edu	37	11	74554923	74554923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74554923delG	uc009yub.3	-	17	2433	c.2101delC	c.(2101-2103)cggfs	p.R701fs	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.3_Frame_Shift_Del_p.R324fs|XRRA1_uc001ovo.3_Frame_Shift_Del_p.R309fs|XRRA1_uc001ovp.4_Frame_Shift_Del_p.R426fs|XRRA1_uc001ovq.4_Intron|XRRA1_uc001ovr.2_Frame_Shift_Del_p.R324fs|XRRA1_uc001ovs.1_3'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	701					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GTAATGTTCCGGGGATCCCGC	0.557													11	14	---	---	---	---					
CEP57	9702	broad.mit.edu	37	11	95552024	95552026	+	In_Frame_Del	DEL	GAA	GAA	-	rs142615007		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:95552024_95552026delGAA	uc001pfp.2	+	5	893_895	c.655_657delGAA	c.(655-657)gaadel	p.E221del	CEP57_uc001pfo.2_In_Frame_Del_p.E221del|CEP57_uc009ywn.2_In_Frame_Del_p.E69del|CEP57_uc010ruh.2_In_Frame_Del_p.E212del|CEP57_uc001pfq.2_In_Frame_Del_p.E221del|CEP57_uc001pfr.2_In_Frame_Del_p.E69del	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	221	centrosome localization domain (CLD) (By similarity).				G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAACTCCATGAAGAAGAACAGG	0.345									Mosaic Variegated Aneuploidy Syndrome				23	37	---	---	---	---					
TECTA	7007	broad.mit.edu	37	11	120983885	120983885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120983885delC	uc010rzo.2	+	3	591	c.591delC	c.(589-591)gacfs	p.D197fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	197	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGGCGGCGACCCCCTGACAG	0.582											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	75	---	---	---	---					
CACNA1C	775	broad.mit.edu	37	12	2614074	2614074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:2614074delT	uc009zdu.1	+	7	1493	c.1180delT	c.(1180-1182)tttfs	p.F394fs	CACNA1C_uc001qkc.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc009zdv.1_Frame_Shift_Del_p.F391fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.F394fs|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	394					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATAGGGTCATTTTTTGTACT	0.403													18	26	---	---	---	---					
DSTNP2	171220	broad.mit.edu	37	12	6994172	6994172	+	RNA	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:6994172delT	uc021que.1	+	0		c.327delT								Homo sapiens destrin (actin depolymerizing factor) pseudogene 2 (DSTNP2), non-coding RNA.																		AAGGCTGTCATTTTTTTGTCT	0.393													23	42	---	---	---	---					
PLEKHA5	54477	broad.mit.edu	37	12	19427544	19427545	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:19427544_19427545insA	uc001reb.3	+	9	1030_1031	c.922_923insA	c.(922-924)caafs	p.Q308fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.Q314fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_uc009zin.3_Frame_Shift_Ins_p.Q66fs|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc001rec.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	308							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCAAAACAATCAAAAAAACAAG	0.327													23	29	---	---	---	---					
KIF21A	55605	broad.mit.edu	37	12	39745622	39745623	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:39745622_39745623insT	uc001rly.3	-	10	2049_2050	c.1629_1630insA	c.(1627-1632)aaagatfs	p.K543fs	KIF21A_uc001rlx.3_Frame_Shift_Ins_p.K543fs|KIF21A_uc001rlz.3_Frame_Shift_Ins_p.K543fs|KIF21A_uc010skl.2_Frame_Shift_Ins_p.K543fs	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	543					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTCTAAATCTTTTTTTGCTA	0.337													32	44	---	---	---	---					
HDAC7	51564	broad.mit.edu	37	12	48181527	48181527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:48181527delG	uc010slo.2	-	20	2616	c.2421delC	c.(2419-2421)cccfs	p.P807fs	HDAC7_uc001rqe.3_Frame_Shift_Del_p.P241fs|HDAC7_uc001rqj.4_Frame_Shift_Del_p.P770fs|HDAC7_uc001rqk.4_Frame_Shift_Del_p.P790fs|HDAC7_uc010slp.2_Frame_Shift_Del_p.P51fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	768	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GATCCCCCATGGGGGGGTCCA	0.622													11	9	---	---	---	---					
MLL2	8085	broad.mit.edu	37	12	49434073	49434074	+	Frame_Shift_Ins	INS	-	-	C	rs10747559	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49434073_49434074insC	uc001rta.4	-	30	7479_7480	c.7479_7480insG	c.(7477-7482)gggttcfs	p.G2493fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2493	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCTGCTGGGAACCCCCCAGCCC	0.653			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			25	64	---	---	---	---					
MLL2	8085	broad.mit.edu	37	12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49440431delG	uc001rta.4	-	14	4379	c.4379delC	c.(4378-4380)ccafs	p.P1460fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1460	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGTGAGCAGTGGGGGGTCCAG	0.562			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			52	123	---	---	---	---					
RNF41	10193	broad.mit.edu	37	12	56600292	56600293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:56600292_56600293insC	uc021qyz.1	-	6	1211_1212	c.892_893insG	c.(892-894)gatfs	p.D298fs	RNF41_uc001ske.2_Frame_Shift_Ins_p.D227fs|RNF41_uc001skf.2_Frame_Shift_Ins_p.D298fs|RNF41_uc010sqh.2_Frame_Shift_Ins_p.D227fs|RNF41_uc010sqg.2_Frame_Shift_Ins_p.D233fs|RNF41_uc001skg.2_Frame_Shift_Ins_p.D298fs	NM_001242826	NP_001229755	Q9H4P4	RNF41_HUMAN	Homo sapiens ring finger protein 41 (RNF41), transcript variant 4, mRNA.	298					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CACCATGTCATCCCCCATGTGC	0.515											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	128	143	---	---	---	---					
MDM1	56890	broad.mit.edu	37	12	68724964	68724964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:68724964delT	uc001stz.2	-	1	192	c.56delA	c.(55-57)aagfs	p.K19fs	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Frame_Shift_Del_p.K19fs|MDM1_uc001sua.4_Frame_Shift_Del_p.K19fs|MDM1_uc010std.2_Frame_Shift_Del_p.K19fs	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	19						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CAAATAAGACTTTTTCCACAG	0.423													56	82	---	---	---	---					
SUDS3	64426	broad.mit.edu	37	12	118814517	118814522	+	In_Frame_Del	DEL	GGCCCC	GGCCCC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:118814517_118814522delGGCCCC	uc001twz.3	+	0	160_165	c.21_26delGGCCCC	c.(19-27)ctggccccg>ctg	p.AP10del		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	10					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGCTGCTGGCCCCGGCCCCGGCC	0.743													5	9	---	---	---	---					
P2RX2	22953	broad.mit.edu	37	12	133196264	133196264	+	Splice_Site	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:133196264delG	uc001ukk.1	+	3	310	c.310_splice	c.e3-1	p.G104_splice	P2RX2_uc001uki.1_Splice_Site_p.G104_splice|P2RX2_uc001ukj.1_Splice_Site_p.G104_splice|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Splice_Site_p.G104_splice|P2RX2_uc001uko.1_Intron	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	104					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCTGAGCCCAGGGGGGCAGCG	0.756													25	33	---	---	---	---					
POSTN	10631	broad.mit.edu	37	13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:38144790delT	uc001uwo.4	-	18	2314	c.2196delA	c.(2194-2196)aaafs	p.K732fs	POSTN_uc010tet.2_Frame_Shift_Del_p.K233fs|POSTN_uc001uwp.4_Frame_Shift_Del_p.K675fs|POSTN_uc001uwr.3_Frame_Shift_Del_p.K705fs|POSTN_uc001uwq.3_Frame_Shift_Del_p.K675fs|POSTN_uc010teu.1_Frame_Shift_Del_p.K705fs|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	732					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTTGGTGTATTTTTTAATAA	0.343													32	63	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46543691	46543691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:46543691delT	uc010tfw.1	-	12	2994	c.2988delA	c.(2986-2988)aaafs	p.K996fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.K996fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K996fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	996	Lys-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTTCTGTCCTTTTTTTGGTG	0.333													8	73	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:77844149delT	uc021rks.1	-	6	1505	c.1238delA	c.(1237-1239)aagfs	p.K413fs	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACCAAGACTTTTTTTCTTT	0.289													60	99	---	---	---	---					
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:103524612delA	uc001vpu.2	+	20	4227	c.4105delA	c.(4105-4107)aaafs	p.K1369fs	BIVM-ERCC5_uc001vpw.3_Frame_Shift_Del_p.K915fs|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Frame_Shift_Del_p.K747fs	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1340					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CACCAAAGTGAAAAAAAAATT	0.428													32	35	---	---	---	---					
OR4K13	390433	broad.mit.edu	37	14	20502375	20502375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502375delA	uc010tkz.2	-	0	543	c.543delT	c.(541-543)cttfs	p.L181fs		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACAAGGGGAAGGTCACAGA	0.483													29	71	---	---	---	---					
NKX2-1	7080	broad.mit.edu	37	14	36987157	36987157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:36987157delC	uc001wtu.3	-	2	628	c.532delG	c.(532-534)gacfs	p.D178fs	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Frame_Shift_Del_p.D148fs|NKX2-1_uc001wtv.3_Frame_Shift_Del_p.D148fs|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	148					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TTGCTCACGTCCCCCAGCGAG	0.687			A		NSCLC								13	26	---	---	---	---					
SNAPC1	6617	broad.mit.edu	37	14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62242911delT	uc001xft.3	+	4	737	c.633delT	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TAAAGGATGATTTTTTTGACA	0.358													19	32	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:72054754_72054755insC	uc001xms.3	+	1	526_527	c.165_166insC	c.(163-168)ggacccfs	p.G55fs	SIPA1L1_uc001xmt.3_Frame_Shift_Ins_p.G55fs|SIPA1L1_uc001xmu.3_Frame_Shift_Ins_p.G55fs|SIPA1L1_uc001xmv.3_Frame_Shift_Ins_p.G55fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	55					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535													56	90	---	---	---	---					
C14orf43	91748	broad.mit.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:74205773delG	uc010tud.1	-	0	1186	c.939delC	c.(937-939)cccfs	p.P313fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.P313fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P312S(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TATCTGGGTTGGGGGGGAAGG	0.662													16	20	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248388	75248388	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:75248388delC	uc001xqj.4	+	3	1766	c.1642delC	c.(1642-1644)cccfs	p.P548fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCAGTGATGCCCCCTGCCCT	0.577													26	357	---	---	---	---					
CDC42BPB	9578	broad.mit.edu	37	14	103447224	103447224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103447224delA	uc001ymi.1	-	7	1258	c.1026delT	c.(1024-1026)tttfs	p.F342fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	342	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E343fs*1(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTAGACCTTCAAAAAACGCAT	0.458													45	78	---	---	---	---					
EXOC3L4	91828	broad.mit.edu	37	14	103573972	103573973	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103573972_103573973delCT	uc001ymk.3	+	8	1782_1783	c.1706_1707delCT	c.(1705-1707)actfs	p.T569fs		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	569										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCCCAGGAGACTCTGCAGGAGG	0.703													8	14	---	---	---	---					
KIF26A	26153	broad.mit.edu	37	14	104642560	104642560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:104642560delC	uc001yos.4	+	11	3435	c.3435delC	c.(3433-3435)ggcfs	p.G1145fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1145					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACCCTGGGGGCCCCCCTGCCC	0.711													10	15	---	---	---	---					
ARHGAP11A	9824	broad.mit.edu	37	15	32916446	32916446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:32916446delT	uc001zgy.1	+	3	1092	c.370delT	c.(370-372)tttfs	p.F124fs	ARHGAP11A_uc010ubw.1_5'UTR|ARHGAP11A_uc001zgw.3_Frame_Shift_Del_p.F124fs|ARHGAP11A_uc010ubx.1_5'UTR	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	124	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TCTTAAGCAGTTTTTTAGGGA	0.398													22	19	---	---	---	---					
C15orf24	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:34393991_34393993delAGC	uc001zhm.3	-	0	61_63	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	16						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ATCCCCCGATAGCAGCAGCAGCA	0.665													9	294	---	---	---	---					
RASGRP1	10125	broad.mit.edu	37	15	38795505	38795505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:38795505delT	uc001zke.4	-	10	1574	c.1396delA	c.(1396-1398)accfs	p.T466fs	RASGRP1_uc010bbe.3_Intron|RASGRP1_uc010bbf.3_Intron|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Intron	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	466					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTGCTAATGGTTTTTGGATCA	0.443													12	16	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62174867	62174868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62174867_62174868insA	uc002agz.3	-	68	9642_9643	c.9551_9552insT	c.(9550-9552)ttafs	p.L3184fs	VPS13C_uc002aha.3_Frame_Shift_Ins_p.L3141fs|VPS13C_uc002ahb.2_Frame_Shift_Ins_p.L3184fs|VPS13C_uc002ahc.2_Frame_Shift_Ins_p.L3141fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3184					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAATTCCTGATAAAAAGTCTCG	0.371													35	49	---	---	---	---					
USP3	9960	broad.mit.edu	37	15	63829242	63829242	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:63829242delA	uc002amf.3	+	2	300	c.171delA	c.(169-171)gcafs	p.A57fs	USP3_uc010uii.1_Non-coding_Transcript|USP3_uc002amg.3_5'UTR|USP3_uc002amh.3_Frame_Shift_Del_p.A35fs|USP3_uc010uij.2_Intron|USP3_uc010uik.2_Intron|USP3_uc010bgs.3_Frame_Shift_Del_p.A40fs|USP3_uc002ami.3_5'UTR	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	Homo sapiens ubiquitin specific peptidase 3 (USP3), mRNA.	57					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGGCCATGCAAAAAAACATT	0.299													10	18	---	---	---	---					
MTFMT	123263	broad.mit.edu	37	15	65312544	65312544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65312544delC	uc002aof.4	-	4	738	c.712delG	c.(712-714)gcgfs	p.A238fs		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	238						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CCGTAAGTCGCCCCCTCCATT	0.408													19	35	---	---	---	---					
CALML4	91860	broad.mit.edu	37	15	68486389	68486389	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:68486389delA	uc002arb.3	-	4	1289	c.555delT	c.(553-555)tttfs	p.F185fs	CALML4_uc002arc.3_Frame_Shift_Del_p.F138fs|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Non-coding_Transcript	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	185	EF-hand 4.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCTTGTGGATAAATTCATCAT	0.403													40	40	---	---	---	---					
UACA	55075	broad.mit.edu	37	15	70959372	70959372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:70959372delT	uc002asr.3	-	15	3755	c.3651delA	c.(3649-3651)aaafs	p.K1217fs	UACA_uc010uke.2_Frame_Shift_Del_p.K1108fs|UACA_uc002asq.3_Frame_Shift_Del_p.K1204fs|UACA_uc010bin.1_Frame_Shift_Del_p.K1192fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1217						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TAGTCTCTAATTTTTTTAATG	0.348													33	68	---	---	---	---					
C16orf62	57020	broad.mit.edu	37	16	19710892	19710894	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:19710892_19710894delCAA	uc002dgn.2	+	29	3030_3032	c.2715_2717delCAA	c.(2713-2718)cgcaac>cgc	p.N907del	C16orf62_uc002dgo.2_In_Frame_Del_p.N903del|C16orf62_uc002dgp.2_In_Frame_Del_p.N656del	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	907						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGGACCTACGCAACAACAAGCTC	0.596													36	70	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23711986	23711986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:23711986delG	uc002dma.4	-	12	1712	c.1543delC	c.(1543-1545)ctgfs	p.L515fs	ERN2_uc010bxp.3_Frame_Shift_Del_p.L463fs	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	467					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCAGGTGCCAGGGGGGTCTCC	0.627													38	64	---	---	---	---					
GTF3C1	2975	broad.mit.edu	37	16	27475772	27475772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:27475772delG	uc002dov.2	-	33	5781	c.5741delC	c.(5740-5742)ccafs	p.P1914fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.P1914fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1914						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						TTCAAGAGCTGGGGGTGGAGA	0.652													88	169	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30364763	30364763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30364763delG	uc002dxr.3	-	3	987	c.734delC	c.(733-735)ccafs	p.P245fs	CD2BP2_uc002dxs.3_Frame_Shift_Del_p.P245fs	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	245					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CAGGGAGGGTGGGGGTGTGGG	0.612													35	75	---	---	---	---					
PDPR	55066	broad.mit.edu	37	16	70190614	70190614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70190614delG	uc002eyf.1	+	18	3429	c.2472delG	c.(2470-2472)acgfs	p.T824fs	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Frame_Shift_Del_p.T724fs|PDPR_uc002eyg.1_Frame_Shift_Del_p.T491fs|PDPR_uc002eyh.2_Frame_Shift_Del_p.T169fs|PDPR_uc010vls.1_Frame_Shift_Del_p.T169fs|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	824					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGGACACGGGGGAAGAGC	0.557													26	122	---	---	---	---					
AARS	16	broad.mit.edu	37	16	70288530	70288530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70288530delA	uc002eyn.1	-	16	2504	c.2394delT	c.(2392-2394)cttfs	p.L798fs	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Frame_Shift_Del_p.L628fs	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	798					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CTACCTCTCCAAGGTCAGCGA	0.547													21	43	---	---	---	---					
KIAA0182	23199	broad.mit.edu	37	16	85682261	85682261	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85682261delC	uc002fix.3	+	2	404	c.330delC	c.(328-330)gtcfs	p.V110fs	KIAA0182_uc002fiw.3_Frame_Shift_Del_p.V6fs|KIAA0182_uc002fiy.3_Frame_Shift_Del_p.V37fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	110							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CTATCATCGTCCCCCCTGGGG	0.677													78	104	---	---	---	---					
KLHDC4	54758	broad.mit.edu	37	16	87788830	87788830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87788830delG	uc002fki.3	-	3	441	c.339delC	c.(337-339)cccfs	p.P113fs	KLHDC4_uc002fkj.3_Frame_Shift_Del_p.P113fs|KLHDC4_uc002fkl.3_Frame_Shift_Del_p.P56fs|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	113										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAGGTGGACTGGGGATGTCAA	0.512													33	48	---	---	---	---					
SPG7	6687	broad.mit.edu	37	16	89598886	89598886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89598886delG	uc002fnj.3	+	8	1187	c.1166delG	c.(1165-1167)cgtfs	p.R389fs	SPG7_uc002fni.3_Frame_Shift_Del_p.R389fs	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGCGCTGCCCGTGTGCGGAGC	0.582													57	103	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4875738	4875738	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4875738delG	uc010cku.2	-	15	3078	c.2666delC	c.(2665-2667)cctfs	p.P889fs	CAMTA2_uc002gag.2_Frame_Shift_Del_p.P865fs|CAMTA2_uc002gah.2_Frame_Shift_Del_p.P866fs|CAMTA2_uc002gai.2_Frame_Shift_Del_p.P868fs|CAMTA2_uc010ckv.1_Frame_Shift_Del_p.P513fs	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	866					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGAGGTGCAGGGGGGGGACT	0.612													20	23	---	---	---	---					
ELAC2	60528	broad.mit.edu	37	17	12897743	12897744	+	Splice_Site	DEL	TG	TG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:12897743_12897744delTG	uc002gnz.4	-	22	2225	c.2108_splice	c.e22+1	p.S703_splice	ELAC2_uc002gnu.4_Splice_Site_p.S100_splice|ELAC2_uc002gnv.4_Splice_Site_p.S331_splice|ELAC2_uc002gnx.4_Splice_Site_p.S463_splice|ELAC2_uc010vvo.2_Splice_Site_p.S501_splice|ELAC2_uc010vvp.2_Splice_Site_p.S684_splice|ELAC2_uc010vvq.2_Splice_Site_p.S702_splice|ELAC2_uc010vvr.2_Splice_Site_p.S663_splice	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	703					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTTTGCTACCTGTGTGTCTTTT	0.564													157	289	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17698653	17698653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:17698653delC	uc002grm.3	+	2	2860	c.2391delC	c.(2389-2391)gacfs	p.D797fs	RAI1_uc002grn.1_Frame_Shift_Del_p.D797fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	797						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGGAGGACCCCCCTGGGG	0.667													21	34	---	---	---	---					
NLK	51701	broad.mit.edu	37	17	26519194	26519195	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:26519194_26519195delCT	uc010crj.3	+	9	1696_1697	c.1484_1485delCT	c.(1483-1485)cctfs	p.P495fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	495					Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AACAGAGTGCCTCTCTGCATCA	0.376													10	12	---	---	---	---					
TAF15	8148	broad.mit.edu	37	17	34171886	34171886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34171886delG	uc002hkd.3	+	14	1669	c.1583delG	c.(1582-1584)cggfs	p.R528fs	TAF15_uc002hkc.3_Frame_Shift_Del_p.R525fs	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gACAGAAGCCGGGGGGGCTAT	0.612			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								44	63	---	---	---	---					
KRT222	125113	broad.mit.edu	37	17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:38818272delT	uc002hvc.2	-	1	186	c.121delA	c.(121-123)atgfs	p.M41fs	KRT222_uc002hvb.2_Frame_Shift_Del_p.M1fs|KRT222_uc010cxc.3_Frame_Shift_Del_p.M1fs	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	41						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTTGTCCATTTTTTTGCTT	0.428													65	97	---	---	---	---					
HOXB1	3211	broad.mit.edu	37	17	46607839	46607839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:46607839delG	uc002ink.1	-	0	434	c.428delC	c.(427-429)cctfs	p.P143fs	HOXB1_uc021tzf.1_Frame_Shift_Del_p.P143fs	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	143						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCCCATAAGGGGGATGCTG	0.617													27	53	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:55028016delT	uc002iuu.3	-	1	618	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393													48	79	---	---	---	---					
DNAH17	8632	broad.mit.edu	37	17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76425217delG	uc010dhp.2	-	75	12515	c.12390delC	c.(12388-12390)cccfs	p.P4130fs	DNAH17_uc002jvq.3_Frame_Shift_Del_p.P415fs|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCAGGTTGGGGGGGATCT	0.582													42	132	---	---	---	---					
EPG5	57724	broad.mit.edu	37	18	43459143	43459143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:43459143delA	uc002lbm.3	-	32	5804	c.5704delT	c.(5704-5706)tatfs	p.Y1902fs	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Frame_Shift_Del_p.Y456fs|EPG5_uc002lbn.2_Frame_Shift_Del_p.Y777fs	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1902					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGAAGCTTATAAAAAAAGTCT	0.343													54	61	---	---	---	---					
RTTN	25914	broad.mit.edu	37	18	67697249	67697249	+	Splice_Site	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:67697249delT	uc002lkp.2	-	42	5813	c.5745_splice	c.e42+1	p.K1915_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.K1003_splice|RTTN_uc010dqp.2_Splice_Site_p.K167_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1915							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAATGTTACCTTTTTTTTCAA	0.398													57	70	---	---	---	---					
TICAM1	148022	broad.mit.edu	37	19	4816465	4816465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:4816465delG	uc002mbi.3	-	1	2176	c.1925delC	c.(1924-1926)ccafs	p.P642fs	TICAM1_uc021unj.1_Frame_Shift_Del_p.P642fs	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	642	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488).	I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.P643fs*>71(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGAGGGCGGTGGGGGGGTGCC	0.731													20	24	---	---	---	---					
SAFB2	9667	broad.mit.edu	37	19	5587282	5587282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5587282delG	uc002mcd.3	-	20	3046	c.2834delC	c.(2833-2835)ccgfs	p.P945fs		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	945	Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding	p.P945fs*>9(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gtgggggtacggggggggatg	0.657													9	18	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9062393	9062394	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:9062393_9062394delTG	uc002mkp.3	-	2	25256_25257	c.25052_25053delCA	c.(25051-25053)acafs	p.T8351fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8353	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCACTGCTGTGTGTGTGGA	0.485													57	88	---	---	---	---					
ZNF433	163059	broad.mit.edu	37	19	12127235	12127235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12127235delT	uc002msy.1	-	3	618	c.447delA	c.(445-447)aaafs	p.K149fs	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.K114fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTTGAAAGGTTTTTTACAGT	0.368													61	89	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17039883_17039884insC	uc002nfb.3	-	23	3185_3186	c.3153_3154insG	c.(3151-3156)gggcatfs	p.G1051fs		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1004						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													21	27	---	---	---	---					
ELL	8178	broad.mit.edu	37	19	18569071	18569073	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18569071_18569073delCTT	uc002njh.3	-	5	883_885	c.811_813delAAG	c.(811-813)aagdel	p.K271del	ELL_uc010ebq.3_In_Frame_Del_p.K214del|ELL_uc002njg.3_In_Frame_Del_p.K138del	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	271					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CAGGCCAGTCCTTCTGCACATCC	0.601			T	MLL	AL								30	50	---	---	---	---					
MLL2	8085	broad.mit.edu	37	19	36229400	36229400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36229400delC	uc021usv.1	+	36	8090	c.8090delC	c.(8089-8091)gccfs	p.A2697fs	MLL2_uc021usu.1_Frame_Shift_Del_p.A1511fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5519					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R2696W(2)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATCGAGGATGCCAGCAACAAG	0.617			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			22	28	---	---	---	---					
PAK4	10298	broad.mit.edu	37	19	39664268	39664269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39664268_39664269insC	uc002okj.1	+	5	1177_1178	c.716_717insC	c.(715-717)atcfs	p.I239fs	PAK4_uc002okl.1_Frame_Shift_Ins_p.I239fs|PAK4_uc002okn.1_Frame_Shift_Ins_p.I239fs|PAK4_uc002okm.1_Frame_Shift_Ins_p.I86fs|PAK4_uc002oko.1_Frame_Shift_Ins_p.I86fs|PAK4_uc002okp.1_Frame_Shift_Ins_p.I149fs	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	239	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGCCTGGCCATCCCCCAGTCCT	0.703													19	17	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47424741	47424741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47424741delT	uc010ekv.3	+	0	2809	c.2809delT	c.(2809-2811)tttfs	p.F937fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	937					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTTCACCCATTTTTTAAAGA	0.453													77	118	---	---	---	---					
RASIP1	54922	broad.mit.edu	37	19	49232773	49232773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49232773delC	uc002pki.3	-	4	1451	c.1254delG	c.(1252-1254)gggfs	p.G418fs		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	418					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GAGCCGGGGACCCCCCGCGGC	0.657													9	6	---	---	---	---					
IL4I1	259307	broad.mit.edu	37	19	50393104	50393104	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50393104delC	uc002pqv.2	-	10	2383	c.1554delG	c.(1552-1554)gggfs	p.G518fs	IL4I1_uc002pqt.1_Frame_Shift_Del_p.G509fs|IL4I1_uc021uxy.1_Frame_Shift_Del_p.G531fs|IL4I1_uc002pqu.2_Frame_Shift_Del_p.G531fs|IL4I1_uc010eno.2_Frame_Shift_Del_p.G517fs	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	509						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCGATGCAGGCCCCTTCCGGC	0.687													31	33	---	---	---	---					
ZSCAN18	65982	broad.mit.edu	37	19	58596656	58596656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58596656delG	uc010yht.1	-	6	1127	c.1097delC	c.(1096-1098)cctfs	p.P366fs	ZSCAN18_uc002qrj.3_Frame_Shift_Del_p.P309fs|ZSCAN18_uc010yhs.1_Frame_Shift_Del_p.P174fs|ZSCAN18_uc002qrh.2_Frame_Shift_Del_p.P310fs|ZSCAN18_uc002qri.2_Frame_Shift_Del_p.P310fs|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	310					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P310fs*119(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCGTCCCCAGGGGGCGCCTC	0.746													25	30	---	---	---	---					
TRIB3	57761	broad.mit.edu	37	20	368784	368784	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:368784delC	uc002wdn.3	+	2	528	c.211delC	c.(211-213)cccfs	p.P71fs	TRIB3_uc002wdm.3_Frame_Shift_Del_p.P44fs	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	44	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCCAGACTGCCCCCCTGCCT	0.627													15	229	---	---	---	---					
SOGA1	140710	broad.mit.edu	37	20	35444375	35444376	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:35444375_35444376insC	uc021wcx.1	-	4	1809_1810	c.1469_1470insG	c.(1468-1470)ggtfs	p.G490fs	SOGA1_uc002xgd.1_Frame_Shift_Ins_p.G252fs	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	252										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTGCCTCAGGACCCCCACAGCC	0.668													17	35	---	---	---	---					
SUMO1P1	391257	broad.mit.edu	37	20	52491839	52491840	+	RNA	INS	-	-	TCT			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:52491839_52491840insTCT	uc010gik.3	-	0		c.409_410insAGA								Homo sapiens SUMO1 pseudogene 1 (SUMO1P1), non-coding RNA.											kidney(1)	1						CCTCAATCACATCTTCTTCCTC	0.371													9	46	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33068894	33068896	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:33068894_33068896delGGA	uc002ypd.2	-	7	1371_1373	c.945_947delTCC	c.(943-948)cctcca>cca	p.315_316PP>P	SCAF4_uc002ype.2_In_Frame_Del_p.315_316PP>P|SCAF4_uc010glu.2_In_Frame_Del_p.300_301PP>P|SCAF4_uc002ypf.1_5'UTR	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	315	Poly-Pro.					nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGTGCCTGTGGAGGAGGAGGAG	0.512													20	38	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47662805	47662805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:47662805delA	uc002zir.1	-	24	5373	c.5337delT	c.(5335-5337)tttfs	p.F1779fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Del_p.F274fs|MCM3AP_uc002zip.1_Frame_Shift_Del_p.F520fs|MCM3AP_uc002ziq.1_Frame_Shift_Del_p.F706fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1779					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.K1780fs*5(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCGTTTTTAAAAAAATACA	0.433													45	75	---	---	---	---					
TUBA8	51807	broad.mit.edu	37	22	18609160	18609161	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:18609160_18609161delCA	uc002znw.1	+	2	784_785	c.487_488delCA	c.(487-489)cacfs	p.H163fs	TUBA8_uc002znv.2_Frame_Shift_Del_p.H139fs|TUBA8_uc021wkt.1_Frame_Shift_Del_p.H73fs	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	139					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCTGATTTTCCACAGTTTTGGT	0.520													65	135	---	---	---	---					
ZDHHC8	29801	broad.mit.edu	37	22	20130522	20130522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:20130522delC	uc002zrr.2	+	9	1476	c.1369delC	c.(1369-1371)cccfs	p.P457fs	ZDHHC8_uc002zrq.3_Frame_Shift_Del_p.P457fs|ZDHHC8_uc010gsa.3_Frame_Shift_Del_p.P263fs	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	457						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687													31	26	---	---	---	---					
THAP7	80764	broad.mit.edu	37	22	21354970	21354970	+	Frame_Shift_Del	DEL	C	C	-	rs426938	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:21354970delC	uc002ztr.1	-	3	373	c.343delG	c.(343-345)gctfs	p.A115fs	THAP7_uc002zts.1_Frame_Shift_Del_p.A115fs|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	NM_001008695	NP_085050	Q9BT49	THAP7_HUMAN	Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.	115			A -> P (in dbSNP:rs426938).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	p.A115P(2)		cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGACTTCAGCGGGGCCAGGT	0.602													85	120	---	---	---	---					
GGT5	2687	broad.mit.edu	37	22	24627387	24627387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:24627387delC	uc002zzp.4	-	5	1283	c.866delG	c.(865-867)ggtfs	p.G289fs	GGT5_uc002zzo.4_Frame_Shift_Del_p.G289fs|GGT5_uc002zzr.4_Frame_Shift_Del_p.G257fs|GGT5_uc002zzq.4_Frame_Shift_Del_p.G257fs|GGT5_uc011ajm.2_Frame_Shift_Del_p.G212fs|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	289					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GAGAATGGCACCCCCTGCAGG	0.677													2	4	---	---	---	---					
EIF4ENIF1	56478	broad.mit.edu	37	22	31838994	31838994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31838994delT	uc003akz.2	-	15	2358	c.2160delA	c.(2158-2160)aaafs	p.K720fs	EIF4ENIF1_uc003akx.2_Frame_Shift_Del_p.K375fs|EIF4ENIF1_uc003aky.2_Frame_Shift_Del_p.K400fs|EIF4ENIF1_uc003ala.2_Frame_Shift_Del_p.K720fs|EIF4ENIF1_uc003alb.2_Frame_Shift_Del_p.K546fs|EIF4ENIF1_uc003akw.2_Frame_Shift_Del_p.K210fs	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	720						nucleus	protein binding|protein transporter activity	p.G719*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGAGCTGCTTTTCCAGATG	0.463													74	82	---	---	---	---					
C22orf24	25775	broad.mit.edu	37	22	32330115	32330117	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:32330115_32330117delAGA	uc003aly.3	-	2	637_639	c.470_472delTCT	c.(469-474)ttctcc>tcc	p.F157del	C22orf24_uc003alx.3_Non-coding_Transcript	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	Homo sapiens chromosome 22 open reading frame 24 (C22orf24), mRNA.	157						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						CAGGACTCGGAGAAGATGTTGCT	0.571													13	21	---	---	---	---					
NPTXR	23467	broad.mit.edu	37	22	39222592	39222592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39222592delG	uc003awk.3	-	2	1165	c.1011delC	c.(1009-1011)cccfs	p.P337fs		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	337	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTAGGAGAAGGGGGTGCCCT	0.652													68	107	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42606139	42606139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:42606139delA	uc003bcj.1	-	0	5307	c.5173delT	c.(5173-5175)tatfs	p.Y1725fs	TCF20_uc003bck.1_Frame_Shift_Del_p.Y1725fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTGGGGATAAAAAGGTCCA	0.502													59	78	---	---	---	---					
ARSA	410	broad.mit.edu	37	22	51065756	51065757	+	Frame_Shift_Ins	INS	-	-	C	rs74315455		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51065756_51065757insC	uc003bna.4	-	1	306_307	c.44_45insG	c.(43-45)ggcfs	p.G15fs	ARSA_uc021wsd.1_Frame_Shift_Ins_p.G101fs|ARSA_uc021wse.1_Frame_Shift_Ins_p.G101fs|ARSA_uc021wsf.1_Frame_Shift_Ins_p.G101fs|ARSA_uc003bmz.4_Frame_Shift_Ins_p.G99fs|ARSA_uc010hbf.3_Frame_Shift_Ins_p.G99fs	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	99						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCAGGGGCAGGCCCCCCCGGGA	0.718													8	9	---	---	---	---					
SHANK3	85358	broad.mit.edu	37	22	51159932	51159933	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51159932_51159933insG	uc003bne.1	+	21	3719_3720	c.3719_3720insG	c.(3718-3720)ctgfs	p.L1240fs	SHANK3_uc003bnf.1_Frame_Shift_Ins_p.L687fs	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1240										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCCAGCAGGCTGGGGGGGGCCG	0.718													8	8	---	---	---	---					
ACR	49	broad.mit.edu	37	22	51178329	51178330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51178329_51178330insC	uc003bnh.4	+	2	501_502	c.489_490insC	c.(487-492)ctgcccfs	p.L163fs	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Frame_Shift_Ins_p.L163fs	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	163	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGCTGCCTGCCCCACTTTAA	0.579													68	93	---	---	---	---					
SLC25A6	293	broad.mit.edu	37	X	1508427	1508427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:1508427delC	uc004cpt.3	-	1	442	c.305delG	c.(304-306)ggcfs	p.G102fs	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	102					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGTCCACGCCCCCCAGGAA	0.607													101	189	---	---	---	---					
ARSE	415	broad.mit.edu	37	X	2854881	2854883	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2854881_2854883delAGA	uc011mhh.2	-	10	1847_1849	c.1386_1388delTCT	c.(1384-1389)cttctg>ctg	p.462_463LL>L	ARSE_uc011mhi.2_In_Frame_Del_p.383_384LL>L|ARSE_uc004crc.4_In_Frame_Del_p.437_438LL>L			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	437					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGCAAGGGCAGAAGGTCTTGGC	0.562													20	25	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47030467	47030469	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47030467_47030469delGGC	uc004dhi.3	+	3	666_668	c.437_439delGGC	c.(436-441)aggcgg>agg	p.146_147RR>R	RBM10_uc004dhe.2_In_Frame_Del_p.G83del|RBM10_uc004dhf.3_In_Frame_Del_p.81_82RR>R|RBM10_uc004dhh.3_In_Frame_Del_p.81_82RR>R|RBM10_uc010nhq.3_Intron|RBM10_uc004dhg.3_Intron	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	81	RRM 1.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding	p.R85delR(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTCAGCGTAGGCGGCGGCGGCG	0.680													26	40	---	---	---	---					
GATA1	2623	broad.mit.edu	37	X	48652397	48652397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48652397delC	uc004dkq.4	+	5	1159	c.1068delC	c.(1066-1068)ggcfs	p.G356fs		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	356					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGACACTGGGCCCCCCAGGTA	0.647			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								7	15	---	---	---	---					
TSPYL2	64061	broad.mit.edu	37	X	53111865	53111865	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:53111865delG	uc004drw.3	+	0	324	c.185delG	c.(184-186)aggfs	p.R62fs	TSPYL2_uc004drv.3_Frame_Shift_Del_p.R62fs|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	62	Pro-rich.				cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GCCGATATGAGGGGGGTGGGA	0.726													6	11	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73045718	73045718	+	RNA	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73045718delA	uc004ebn.2	+	0		c.33679delA			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AAACAGGAAGAAAAAAATCAA	0.368													16	31	---	---	---	---					
FRMD7	90167	broad.mit.edu	37	X	131212901	131212903	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:131212901_131212903delTCC	uc004ewn.3	-	11	1320_1322	c.1142_1144delGGA	c.(1141-1146)aggaat>aat	p.R381del	FRMD7_uc022cdy.1_In_Frame_Del_p.R261del|FRMD7_uc011muy.2_In_Frame_Del_p.R366del	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	381					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					aatgcagaattcctcctcctact	0.498													12	298	---	---	---	---					
