Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC20A2	6575	broad.mit.edu	37	8	42294860	42294860	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:42294860G>A	uc003xpe.3	-	7	1539	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	SLC20A2_uc010lxl.3_Silent_p.T390T|SLC20A2_uc010lxm.3_Silent_p.T390T|SLC20A2_uc011lcu.2_Silent_p.T192T	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	390					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)			AAATGGCTGCGGTGTAGCAGG	0.607000														62			44		0	0	0.00285205	0	0
COL8A1	1295	broad.mit.edu	37	3	99513711	99513711	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:99513711G>A	uc003dti.1	+	2	1097	c.969G>A	c.(967-969)ggG>ggA	p.G323G	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.G322G|COL8A1_uc003dth.1_Silent_p.G322G	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	322	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						GCCAGGATGGGATCCCAGGCC	0.632000														23			9		0	0	0.000274275	0	0
RNF43	54894	broad.mit.edu	37	17	56435718	56435718	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:56435718G>A	uc002iwf.3	-	7	3375	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	RNF43_uc010wnv.2_Silent_p.G432G|RNF43_uc002iwh.4_Silent_p.G473G|RNF43_uc002iwg.4_Silent_p.G473G|RNF43_uc010dcw.3_Silent_p.G346G	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	473	Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTGGAAGAGCCATGACAGG	0.572000														19			48		0	0	0.000781405	0	0
PLXND1	23129	broad.mit.edu	37	3	129276010	129276010	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:129276010G>A	uc003emx.2	-	33	5602	c.5502C>T	c.(5500-5502)atC>atT	p.I1834I	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.I503I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1834					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCGCTGCACGATCTTCCGGT	0.587000														38			13		0	0	0.00244969	0	0
LRRN4	164312	broad.mit.edu	37	20	6022124	6022124	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:6022124C>T	uc002wmo.2	-	4	1991	c.1767G>A	c.(1765-1767)acG>acA	p.T589T		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	589	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGTGGTCTCCGTCACCCCCT	0.711000														32			20		0	0	0.00121646	0	0
KNTC1	9735	broad.mit.edu	37	12	123089491	123089491	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:123089491C>G	uc001ucv.3	+	49	5406	c.5243C>G	c.(5242-5244)aCa>aGa	p.T1748R	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1748					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CGATCGGGCACAGAAGCTGTG	0.433000														3			8		0	0	0.000157383	0	0
SEMA4A	64218	broad.mit.edu	37	1	156130705	156130705	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:156130705C>T	uc001fnl.3	+	7	874	c.695C>T	c.(694-696)tCc>tTc	p.S232F	SEMA4A_uc009wrq.3_Missense_Mutation_p.S232F|SEMA4A_uc001fnm.3_Missense_Mutation_p.S232F|SEMA4A_uc001fnn.3_Missense_Mutation_p.S100F|SEMA4A_uc001fno.3_Missense_Mutation_p.S232F	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	232	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GATGACGCCTCCTTTGTGGCA	0.602000														52			42		0	0	0.00195071	0	0
EGF	1950	broad.mit.edu	37	4	110925678	110925678	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:110925678C>T	uc003hzy.4	+	21	3643	c.3191C>T	c.(3190-3192)tCg>tTg	p.S1064L	EGF_uc011cfu.2_Missense_Mutation_p.S1022L|EGF_uc011cfv.2_Missense_Mutation_p.S1023L|EGF_uc010imk.3_Missense_Mutation_p.S212L	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	1064					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAGCTGCTATCGAAAAACCCA	0.468000														81			50		0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141264470	141264470	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:141264470C>T	uc002tvj.1	-	52	9388	c.8416G>A	c.(8416-8418)Gat>Aat	p.D2806N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2806	LDL-receptor class A 18.				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)		GCATTTTCATCACATGTATTA	0.378000										TSP Lung(27;0.18)				55			21		0	0	0.00047179	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14205243	14205243	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:14205243G>A	uc002goh.1	+	0	738	c.408G>A	c.(406-408)caG>caA	p.Q136Q	MGC12916_uc010vvv.2_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 (HS3ST3B1), mRNA.	136					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GGAGCAAGCAGCTGCCGCAGG	0.697000														6			4		0	0	0.00024832	0	0
COL5A2	1290	broad.mit.edu	37	2	189927735	189927735	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:189927735C>T	uc002uqk.3	-	28	2198	c.1923_splice	c.e28+1	p.R641_splice	COL5A2_uc010frx.3_Splice_Site_p.R217_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	641					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGTATATTTACCCTCTGCCCA	0.368000														67			37		0	0	0.00128727	0	0
ECT2	1894	broad.mit.edu	37	3	172473144	172473144	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:172473144G>A	uc003fii.2	+	2	328	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ECT2_uc010hwv.1_Missense_Mutation_p.E64K|ECT2_uc003fih.2_Missense_Mutation_p.E63K|ECT2_uc003fij.1_Missense_Mutation_p.E64K|ECT2_uc003fik.1_Missense_Mutation_p.E64K|ECT2_uc003fil.1_Missense_Mutation_p.E64K	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	64					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAACAAGAAGAACTTATAAA	0.294000														32			21		0	0	0.00229938	0	0
FAM5B	57795	broad.mit.edu	37	1	177250635	177250635	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:177250635G>A	uc001glf.3	+	7	2635	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	FAM5B_uc001glg.3_Missense_Mutation_p.E670K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	775						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAACCCTGTGGAATATGAGAC	0.542000														58			39		0	0	0.000680045	0	0
HERC1	8925	broad.mit.edu	37	15	63955388	63955388	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:63955388G>A	uc002amp.3	-	43	8844	c.8696C>T	c.(8695-8697)tCt>tTt	p.S2899F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2899					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCCTGCACAGAGCGGTATAA	0.393000														105			56		0	0	0.000781405	0	0
LYST	1130	broad.mit.edu	37	1	235969602	235969602	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:235969602G>A	uc001hxj.2	-	5	3009	c.2834C>T	c.(2833-2835)tCt>tTt	p.S945F	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.S945F	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	945					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTCTCGAGAGATATACATGG	0.483000														60			46		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	14	107183569	107183569	+	RNA	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:107183569C>T	uc021ser.1	-	29		c.2009G>A								Parts of antibodies, mostly variable regions.																		ACTCCAGCCCCTTCCCGGGAG	0.532000														39			4		0	0	0.000602214	0	0
LUZP1	7798	broad.mit.edu	37	1	23418816	23418816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:23418816G>A	uc001bgk.2	-	3	2489	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	LUZP1_uc010odv.1_Nonsense_Mutation_p.R647*|LUZP1_uc001bgl.3_Nonsense_Mutation_p.R647*|LUZP1_uc001bgm.1_Nonsense_Mutation_p.R647*	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	647						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGATGACTCGACACCTCAAG	0.463000														94			77		0	0	0.000781405	0	0
PRODH2	58510	broad.mit.edu	37	19	36303435	36303435	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36303435G>A	uc002obx.1	-	2	444	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	142					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGAGCCCAGGAGTCGCCGAG	0.647000														11			15		0	0	0.000422831	0	0
HERC2	8924	broad.mit.edu	37	15	28408299	28408300	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:28408299_28408300CC>TT	uc001zbj.3	-	68	10792_10793	c.10686_10687GG>AA	c.(10684-10689)ggggac>ggAAac	p.D3563N		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3563					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)		CTGCCCCTGTCCCCGGCCCGGC	0.644000														41			17		0	0	6.4e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40980844	40980844	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:40980844C>T	uc002xkg.3	-	9	1826	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTPRT_uc010ggj.3_Missense_Mutation_p.E548K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	548	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)				TGGTGGGTTTCATTCCGGAGC	0.572000														58			32		0	0	0.00283554	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479932	142479932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:142479932G>A	uc011ksq.2	+	1	147	c.64G>A	c.(64-66)Gac>Aac	p.D22N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGATGATGATGACAAGATCGT	0.552000														134			12		0	0	0.000308642	0	0
TRPM7	54822	broad.mit.edu	37	15	50925153	50925153	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50925153G>A	uc001zyt.4	-	8	1326	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	TRPM7_uc010bew.2_Silent_p.S348S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	348					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTTGATAGTGGAAATAATAT	0.343000														43			21		0	0	0.00152264	0	0
DGKG	1608	broad.mit.edu	37	3	185997672	185997672	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:185997672G>A	uc003fqa.3	-	8	1297	c.760C>T	c.(760-762)Cca>Tca	p.P254S	DGKG_uc003fqb.3_Missense_Mutation_p.P254S|DGKG_uc003fqc.3_Missense_Mutation_p.P254S|DGKG_uc011brx.2_Missense_Mutation_p.P254S	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	254	EF-hand 2.				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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCAGCAATGGGATGGTGGTC	0.498000														40			32		0	0	0.001512	0	0
APCS	325	broad.mit.edu	37	1	159558342	159558342	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:159558342G>A	uc001ftv.3	+	1	612	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	172	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TTGTGGGAGAGATTGGGGATT	0.532000														24			22		0	0	0.00229938	0	0
HYAL1	3373	broad.mit.edu	37	3	50339712	50339712	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:50339712G>A	uc003czp.3	-	1	808	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	HYAL3_uc003cze.2_5'Flank|HYAL3_uc003czf.2_5'Flank|HYAL3_uc003czd.2_5'Flank|HYAL3_uc003czg.2_5'Flank|HYAL3_uc021wyo.1_5'Flank|HYAL3_uc003czk.4_5'Flank|HYAL3_uc003czj.3_5'Flank|HYAL1_uc003czm.3_Missense_Mutation_p.R44C|HYAL1_uc003czo.3_Intron|HYAL1_uc003czq.3_Missense_Mutation_p.R226C|HYAL1_uc003czr.3_Missense_Mutation_p.R226C|HYAL1_uc003czn.3_Intron|HYAL1_uc003czs.3_Missense_Mutation_p.R226C|HYAL1_uc003czt.3_Missense_Mutation_p.R226C	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA.	226						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	TTTTGGGCACGGATGCCTGAT	0.602000														6			10		0	0	0.00136819	0	0
LOXL2	4017	broad.mit.edu	37	8	23155621	23155621	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:23155621C>T	uc003xdh.1	-	13	2599	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	LOXL2_uc010lty.1_Silent_p.A255A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	754					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCCGTCTCTTCGCTGAAGGAA	0.557000														17			19		0	0	0.00152264	0	0
LILRA1	11024	broad.mit.edu	37	19	55107841	55107841	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55107841C>T	uc002qgh.1	+	6	1328	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	LILRA1_uc010yfg.1_Silent_p.F380F|LILRA1_uc010yfh.2_Silent_p.F382F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	382	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.E381K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGCTGAATTCCCTATGAGTC	0.587000														74			35		0	0	0.00128727	0	0
EVPL	2125	broad.mit.edu	37	17	74003217	74003217	+	Silent	SNP	G	A	A	rs144079186		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:74003217G>A	uc010wss.1	-	21	6363	c.6135C>T	c.(6133-6135)tcC>tcT	p.S2045S	EVPL_uc002jqi.2_Silent_p.S2023S|EVPL_uc010wst.1_Silent_p.S1493S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	2023					keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGGGAGGCGGAGCGGTAGC	0.682000														26			10		0	0	0.000442599	0	0
OR2L8	391190	broad.mit.edu	37	1	248112734	248112734	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248112734G>A	uc001idt.1	+	0	575	c.575G>A	c.(574-576)tGg>tAg	p.W192*	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGGACACCTGGGTCTATGAG	0.468000														18			8		0	0	0.00185496	0	0
ENPEP	2028	broad.mit.edu	37	4	111397573	111397573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:111397573G>A	uc003iab.4	+	0	345	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	1					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAGCAAAAATGAACTTTGCGG	0.408000														71			39		0	0	0.00222228	0	0
EIF4E	1977	broad.mit.edu	37	4	99806186	99806186	+	Silent	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:99806186A>G	uc003hue.2	-	5	1949	c.426T>C	c.(424-426)ttT>ttC	p.F142F	EIF4E_uc011cea.1_Silent_p.F162F|EIF4E_uc011ceb.1_Silent_p.F173F	NM_001968	NP_001959	P06730	IF4E_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E (EIF4E), transcript variant 1, mRNA.	142					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex	RNA cap binding|protein binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TGTAGTCATCAAAAGATTCTC	0.338000														14			12		0	0	0.00136819	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927154	53927154	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:53927154C>T	uc001cvq.1	+	1	641	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	196	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGTGCGCCCTCTGAACATCAA	0.662000														39			22		0	0	0.00127121	0	0
SACS	26278	broad.mit.edu	37	13	23909874	23909874	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:23909874G>A	uc001uon.2	-	9	8730	c.8141C>T	c.(8140-8142)tCg>tTg	p.S2714L	SACS_uc001uoo.2_Missense_Mutation_p.S2567L|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.	2714					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	p.N2713K(1)		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)		TGGAACAGACGAAATTTCCGA	0.388000														56			25		0	0	0.000586117	0	0
UBASH3B	84959	broad.mit.edu	37	11	122647762	122647762	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:122647762G>A	uc001pyi.4	+	2	606	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	82						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACCCCTTCCTGGATGACCCCC	0.547000														10			15		0	0	0.000958276	0	0
PRAME	23532	broad.mit.edu	37	22	22890990	22890990	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:22890990G>A	uc002zwf.3	-	4	1185	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.S327S|PRAME_uc010gtr.3_Silent_p.S343S|PRAME_uc002zwg.3_Silent_p.S343S|PRAME_uc002zwh.3_Silent_p.S343S|PRAME_uc002zwi.3_Silent_p.S343S|PRAME_uc002zwj.3_Silent_p.S343S|PRAME_uc002zwk.3_Silent_p.S343S	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	343					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGACTCTGGGACAGATGCA	0.537000														82			48		0	0	0.000781405	0	0
CASC1	55259	broad.mit.edu	37	12	25311484	25311484	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:25311484C>T	uc001rgk.3	-	3	202	c.120G>A	c.(118-120)ttG>ttA	p.L40L	CASC1_uc001rgj.3_5'UTR|CASC1_uc001rgm.4_Silent_p.L98L|CASC1_uc001rgl.3_Silent_p.L34L|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_Intron|CASC1_uc010sjg.1_Silent_p.L34L|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	34	Glu-rich.							p.L40S(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTCATATTTCAAACGGGCTT	0.294000														48			32		0	0	0.00209593	0	0
OR51G2	81282	broad.mit.edu	37	11	4936071	4936071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:4936071G>A	uc001lzr.1	-	0	823	c.823C>T	c.(823-825)Cac>Tac	p.H275Y		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGACCAGGTGGGGTGCCTGC	0.512000														38			26		0	0	0.000878237	0	0
ARAP2	116984	broad.mit.edu	37	4	36230649	36230649	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:36230649G>A	uc003gsq.2	-	1	798	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	ARAP2_uc003gsr.1_Missense_Mutation_p.P154S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	154					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTGCAGTGGGGAAGTCGCGT	0.388000														38			23		0	0	0.00278032	0	0
TRIM22	10346	broad.mit.edu	37	11	5719671	5719671	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:5719671C>T	uc001mbr.3	+	3	1025	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Silent_p.L184L|TRIM22_uc010qzm.2_Silent_p.L44L|TRIM22_uc009yes.3_Silent_p.L212L	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	216					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GCTGGATAACCTGGCAGCAGC	0.527000														29			18		0	0	0.000566183	0	0
DCHS2	54798	broad.mit.edu	37	4	155278420	155278420	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:155278420C>T	uc003inw.2	-	5	751	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	251	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K250K(1)|p.K250N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttcattacttccttgtctgct	0.438000														73			45		0	0	0.000680045	0	0
ZNFX1	57169	broad.mit.edu	37	20	47881325	47881325	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:47881325G>A	uc002xui.3	-	4	2326	c.2079C>T	c.(2077-2079)acC>acT	p.T693T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	693							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)			GCTCCCTTAGGGTGAACTGCT	0.542000														65			35		0	0	0.00058488	0	0
ZNF735	730291	broad.mit.edu	37	7	63680401	63680402	+	Missense_Mutation	DNP	CT	TC	TC	rs10258764	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:63680401_63680402CT>TC	uc011kdn.2	+	3	972_973	c.972_973CT>TC	c.(970-975)ccctac>ccTCac	p.Y325H		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GAGAGAAACCCTACACATGTGA	0.421000														13			9		0	0	6.4e-05	0	0
RPS2	6187	broad.mit.edu	37	16	2012137	2012137	+	Missense_Mutation	SNP	C	T	T	rs142405634	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:2012137C>T	uc002cnn.2	-	5	1032	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Non-coding_Transcript|RPS2_uc002cno.2_Missense_Mutation_p.V282M|SNHG9_uc002cnr.3_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	Homo sapiens ribosomal protein S2 (RPS2), mRNA.	282					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTCCGCTGCACGGAGACTCTG	0.498000														23			15		0	0	0.000566183	0	0
NOTCH2	4853	broad.mit.edu	37	1	120506229	120506229	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:120506229C>T	uc001eik.3	-	10	2180	c.1883G>A	c.(1882-1884)gGc>gAc	p.G628D	NOTCH2_uc001eil.3_Missense_Mutation_p.G628D|NOTCH2_uc021osy.1_Missense_Mutation_p.G589D|NOTCH2_uc001eim.4_Missense_Mutation_p.G545D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	628	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACTGGTAGCCATTGACCAG	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					192			100		0	0	0.000781405	0	0
FKBP15	23307	broad.mit.edu	37	9	115947059	115947059	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:115947059G>A	uc004bgs.2	-	15	1677	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	FKBP15_uc010muu.1_Silent_p.L572L|FKBP15_uc004bgr.2_5'Flank|FKBP15_uc011lxc.1_Silent_p.L89L|FKBP15_uc011lxd.1_Silent_p.L440L|FKBP15_uc010mut.1_Silent_p.L376L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	508					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTCAGTCATGAGAAATGAAG	0.413000														4			6		0	0	0.00198382	0	0
ODZ4	26011	broad.mit.edu	37	11	78423616	78423616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:78423616G>A	uc001ozl.4	-	25	4428	c.3965C>T	c.(3964-3966)gCg>gTg	p.A1322V		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1322					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ACCTGTCCCCGCAACCACCTC	0.577000														64			45		0	0	0.000781405	0	0
ATP13A4	84239	broad.mit.edu	37	3	193207525	193207525	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:193207525G>A	uc003ftd.3	-	6	840	c.732C>T	c.(730-732)ctC>ctT	p.L244L	ATP13A4_uc003fte.1_Silent_p.L244L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	244					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCACCTCTCTGAGATCATATA	0.313000														117			66		0	0	0.000781405	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529171	5529171	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:5529171G>A	uc021qcw.1	-	0	1618	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.R540C	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	540										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGGAGGCGAGGTGCTTCA	0.577000														26			12		0	0	0.00136819	0	0
OR2F1	26211	broad.mit.edu	37	7	143657954	143657954	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:143657954G>A	uc003wds.1	+	0	935	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATAAAGAGGTGAAGGGGGCCT	0.433000														31			18		0	0	0.00152264	0	0
THPO	7066	broad.mit.edu	37	3	184091239	184091239	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:184091239G>A	uc003fol.1	-	4	575	c.360C>T	c.(358-360)ctC>ctT	p.L120L	THPO_uc003fom.2_Silent_p.L120L|THPO_uc021xii.1_Silent_p.L120L|THPO_uc003fon.3_Silent_p.L120L|THPO_uc011bro.2_Silent_p.L120L|THPO_uc003fop.3_Silent_p.L120L|THPO_uc011brp.2_Silent_p.L120L|THPO_uc011brq.2_Silent_p.L120L|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_Silent_p.L120L|THPO_uc003fou.1_Silent_p.L120L	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	120					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCAAGGAGGAGACGGACCT	0.587000														32			7		0	0	0.000274275	0	0
GRM7	2917	broad.mit.edu	37	3	7620951	7620951	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:7620951A>C	uc003bqm.2	+	7	2632	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E786D|GRM7_uc003bql.2_Missense_Mutation_p.E786D|GRM7_uc003bqn.1_Missense_Mutation_p.E369D|GRM7_uc010hch.1_Missense_Mutation_p.E297D	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	786					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATTTTAACGAAGCCAAGCCCA	0.433000														24			4		0	0	0.000602214	0	0
LDHC	3948	broad.mit.edu	37	11	18460142	18460142	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:18460142G>A	uc001mon.4	+	5	772	c.660G>A	c.(658-660)acG>acA	p.T220T	LDHC_uc001mom.4_Silent_p.T220T|LDHC_uc009yhp.3_Silent_p.T220T|LDHC_uc001moo.4_Silent_p.T104T|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_Intron	NM_017448	NP_059144	P07864	LDHC_HUMAN	Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA.	220					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AATTAGGAACGGATTCAGATA	0.358000														26			11		0	0	0.000673444	0	0
TATDN2	9797	broad.mit.edu	37	3	10312400	10312400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:10312400C>T	uc011atr.2	+	3	2115	c.1534C>T	c.(1534-1536)Caa>Taa	p.Q512*	TATDN2_uc003bvg.2_Nonsense_Mutation_p.Q512*|TATDN2_uc003bvf.3_Nonsense_Mutation_p.Q512*|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	512						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GCTATCTTTCCAAGGGACCTT	0.498000														11			32		0	0	0.000692331	0	0
FLG	2312	broad.mit.edu	37	1	152282477	152282477	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152282477C>T	uc001ezu.1	-	2	4921	c.4885G>A	c.(4885-4887)Ggc>Agc	p.G1629S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1629	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TTCCTGGAGCCATGTCTTGAC	0.552000									Ichthyosis					102			49		0	0	0.000781405	0	0
CDH18	1016	broad.mit.edu	37	5	19591191	19591191	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:19591191C>T	uc003jgd.3	-	6	1508	c.974G>A	c.(973-975)aGa>aAa	p.R325K	CDH18_uc011cnm.2_Missense_Mutation_p.R325K|CDH18_uc003jgc.3_Missense_Mutation_p.R325K|CDH18_uc021xwu.1_Missense_Mutation_p.R325K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	325	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATTCCTTCTCTGGTCTCTTT	0.403000														43			29		0	0	0.00178596	0	0
SGCZ	137868	broad.mit.edu	37	8	14412253	14412253	+	Missense_Mutation	SNP	C	T	T	rs77000161		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:14412253C>T	uc003wwq.3	-	1	882	c.222G>A	c.(220-222)atG>atA	p.M74I	SGCZ_uc010lss.3_Missense_Mutation_p.M61I	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	61					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGTGAAATTCATAACTTTCA	0.328000														48			16		0	0	0.000308642	0	0
MERTK	10461	broad.mit.edu	37	2	112755015	112755015	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:112755015C>T	uc002thk.1	+	9	1688	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	MERTK_uc002thl.1_Silent_p.S346S	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	522					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						TATACATCTCCTTGGCCATCA	0.448000														41			19		0	0	0.00074312	0	0
CACNG6	59285	broad.mit.edu	37	19	54515287	54515287	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:54515287G>A	uc002qct.3	+	3	1217	c.627G>A	c.(625-627)ccG>ccA	p.P209P	CACNG6_uc002qcu.3_Silent_p.P163P|CACNG6_uc002qcv.3_Silent_p.P138P	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	209						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCCTCCCCCGGCCCCACGCC	0.692000														26			18		0	0	0.00229938	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117785	117785	+	RNA	SNP	C	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrGL000205.1:117785C>A	uc002kgk.4	+	0		c.1163C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGGCCTTTGCAGGATGGGAT	0.567000														41			6		0.000157383	0.000627968	0.000157383	1	0
PTPRU	10076	broad.mit.edu	37	1	29581881	29581881	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:29581881C>T	uc001bru.3	+	1	297	c.168C>T	c.(166-168)atC>atT	p.I56I	PTPRU_uc009vtq.3_Silent_p.I56I|PTPRU_uc009vtr.3_Silent_p.I56I|PTPRU_uc001brw.3_Silent_p.I56I	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	56	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AAGTGCGAATCCACCCTGGCA	0.612000														38			19		0	0	0.00152264	0	0
DIDO1	11083	broad.mit.edu	37	20	61511288	61511288	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:61511288G>A	uc002ydr.2	-	15	6332	c.6020C>T	c.(6019-6021)tCg>tTg	p.S2007L	DIDO1_uc002yds.2_Missense_Mutation_p.S2007L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2007	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGAAATCGCGAAGGGGTCTG	0.632000														67			36		0	0	0.000953801	0	0
ADCY1	107	broad.mit.edu	37	7	45717629	45717629	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:45717629C>T	uc003tne.4	+	8	1785	c.1767C>T	c.(1765-1767)acC>acT	p.T589T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	589					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTTCTTTACCCTGAAGTACA	0.567000														39			17		0	0	0.000566183	0	0
UBE4A	9354	broad.mit.edu	37	11	118255590	118255590	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:118255590C>T	uc001psw.3	+	14	2477	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	UBE4A_uc001psv.3_Missense_Mutation_p.P788L	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	781					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCCATGAATCCCCCACTTTTC	0.368000														37			63		0	0	0.000781405	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453035	110453035	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:110453035G>A	uc003yne.3	+	32	4157	c.4053G>A	c.(4051-4053)agG>agA	p.R1351R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1351	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T1351T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACCATAAGGGGTTTTGGAT	0.378000										HNSCC(38;0.096)				121			61		0	0	0.000781405	0	0
KMO	8564	broad.mit.edu	37	1	241752099	241752099	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:241752099G>A	uc009xgp.3	+	11	1376	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	KMO_uc001hyy.3_Silent_p.A395A|KMO_uc009xgo.2_Silent_p.A395A	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	355					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity	p.A355A(6)|p.A355G(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATGATCACGCGATTTCAGACC	0.363000														57			19		0	0	0.00152264	0	0
PKP2	5318	broad.mit.edu	37	12	32996156	32996156	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:32996156C>T	uc001rlj.4	-	5	1585	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R	PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	490					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					acctcgtgatccgcccgcctt	0.547000														14			10		0	0	0.000442599	0	0
PKD2	5311	broad.mit.edu	37	4	88996693	88996693	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:88996693C>T	uc003hre.3	+	14	2841	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	PKD2_uc011cdf.2_Silent_p.S336S|PKD2_uc011cdg.2_Silent_p.S244S|PKD2_uc011cdh.2_Silent_p.S141S	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	918	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GCTGGGAATCCGATGATGCAG	0.512000														62			37		0	0	0.000814825	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	A	A	rs121913386		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:21971017G>A	uc003zpk.3	-	1	647	c.341C>T	c.(340-342)cCc>cTc	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				24			36		0	0	0.00170553	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111697979	111697979	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:111697979C>T	uc022cct.1	+	0	23	c.23C>T	c.(22-24)tCa>tTa	p.S8L	ZCCHC16_uc004epo.1_Missense_Mutation_p.S8L	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	8							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACGAAATCATCATCTACCATG	0.468000														10			43		0	0	0.000781405	0	0
ABCD2	225	broad.mit.edu	37	12	39980071	39980071	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:39980071C>T	uc001rmb.2	-	6	2101	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	559	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R558R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATGACTTGATCCCGAAGACTT	0.398000														14			31		0	0	0.0024448	0	0
NLRP10	338322	broad.mit.edu	37	11	7984936	7984936	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:7984936G>A	uc001mfv.1	-	0	124	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	36	DAPIN.						ATP binding	p.T36I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAGACAGGGTCATATCCCG	0.537000														38			21		0	0	0.00278032	0	0
PSG8	440533	broad.mit.edu	37	19	43258585	43258585	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:43258585G>A	uc002ouo.2	-	4	1241	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.I381I|PSG8_uc010ein.3_Silent_p.I259I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	381	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TAATTTGGGGGATAAAGAGCT	0.458000														153			74		0	0	0.000781405	0	0
PAX1	5075	broad.mit.edu	37	20	21687290	21687290	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:21687290G>A	uc002wsj.2	+	1	555	c.501G>A	c.(499-501)ggG>ggA	p.G167G	PAX1_uc010zsl.2_Silent_p.G167G|PAX1_uc010zsm.2_Silent_p.G143G	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	167	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCATCGGGGGGAGCAAGCCCC	0.652000														19			22		0	0	0.00152264	0	0
HOXD3	3232	broad.mit.edu	37	2	177036457	177036457	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:177036457G>A	uc002ukt.1	+	2	930	c.754G>A	c.(754-756)Gac>Aac	p.D252N		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	252					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GTACAAGAAGGACCAGAAGGC	0.662000														44			15		0	0	0.00074312	0	0
DHRS3	9249	broad.mit.edu	37	1	12628406	12628406	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:12628406G>A	uc001auc.3	-	5	1339	c.872C>T	c.(871-873)aCc>aTc	p.T291I	DHRS3_uc001aub.3_Missense_Mutation_p.T206I	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	291					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GCAGGTGTAGGTTCCTGAGAA	0.527000														58			40		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13753569	13753569	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:13753569C>T	uc003jfd.2	-	62	10687	c.10645G>A	c.(10645-10647)Gaa>Aaa	p.E3549K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3549					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTTCATTTCCTTCCGCCAG	0.403000									Kartagener syndrome					102			57		0	0	0.000781405	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579560	140579560	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:140579560G>A	uc003liy.3	+	0	213	c.213G>A	c.(211-213)aaG>aaA	p.K71K		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	71	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATGATAAGAAACAGCGTT	0.527000														18			49		0	0	0.000781405	0	0
RGPD3	653489	broad.mit.edu	37	2	107049570	107049570	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:107049570T>G	uc010ywi.1	-	15	2434	c.2377A>C	c.(2377-2379)Agt>Cgt	p.S793R		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	793					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACCTTGTAACTTTTACTTGGT	0.299000														138			11		0	0	0.00278032	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690291	26690291	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:26690291G>A	uc003acb.3	+	2	1065	c.869G>A	c.(868-870)gGg>gAg	p.G290E	SEZ6L_uc003acd.3_Missense_Mutation_p.G290E|SEZ6L_uc011akd.2_Missense_Mutation_p.G290E|SEZ6L_uc003ace.3_Missense_Mutation_p.G290E|SEZ6L_uc011akc.2_Missense_Mutation_p.G290E|SEZ6L_uc003acc.3_Missense_Mutation_p.G290E|SEZ6L_uc003acf.1_Missense_Mutation_p.G63E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G63E	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	290	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AATCCTGAGGGGTACATTGAC	0.517000														57			27		0	0	0.00178596	0	0
CACNG7	59284	broad.mit.edu	37	19	54418697	54418697	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:54418697G>A	uc002qcr.2	+	2	457	c.362G>A	c.(361-363)gGc>gAc	p.G121D	CACNG7_uc010era.2_Missense_Mutation_p.G121D	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	121					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G121C(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGCAACATCGGCCACATCCGC	0.597000														25			23		0	0	0.000586117	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554606	42554606	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:42554606C>T	uc003gwr.2	-	16	1667	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ATP8A1_uc003gws.2_Missense_Mutation_p.E464K|ATP8A1_uc011byz.1_Missense_Mutation_p.E464K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	479					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTAAGAAATTCACATATTATA	0.373000														41			34		0	0	0.00128727	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:228882709C>T	uc002vpq.2	-	6	2908	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G954E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G954E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	954						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTTTTCCACTGGAGTT	0.493000														54			29		0	0	0.0024448	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325450	150325450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:150325450G>A	uc022apv.1	-	2	926	c.446C>T	c.(445-447)tCc>tTc	p.S149F	GIMAP6_uc003whn.3_Missense_Mutation_p.S79F|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	79							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGTCTCTGGGAGGTCTTGGT	0.582000														56			49		0	0	0.000781405	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078628	40078628	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:40078628A>G	uc003ayc.3	+	34	5792	c.5792A>G	c.(5791-5793)aAc>aGc	p.N1931S	CACNA1I_uc003ayd.3_Missense_Mutation_p.N1896S|CACNA1I_uc003aye.3_Missense_Mutation_p.N1846S|CACNA1I_uc003ayf.3_Missense_Mutation_p.N1811S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1931					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ATCCCATTCAACCCTGTCCGG	0.602000														16			6		0	0	0.00116845	0	0
RELN	5649	broad.mit.edu	37	7	103124250	103124250	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:103124250C>T	uc022ajr.1	-	61	10191	c.10031G>A	c.(10030-10032)aGc>aAc	p.S3344N	RELN_uc022ajq.1_Missense_Mutation_p.S3344N|RELN_uc010liz.3_Missense_Mutation_p.S3344N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3344					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGTTGCAGCTGTCCGTCTG	0.463000														51			32		0	0	0.00058488	0	0
STARD6	147323	broad.mit.edu	37	18	51855774	51855774	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:51855774G>A	uc010xdt.2	-	4	422	c.422C>T	c.(421-423)tCa>tTa	p.S141L		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	141	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GATATAATTTGAAGATGGAGG	0.323000														133			52		0	0	0.000781405	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462696	50462696	+	Silent	SNP	G	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:50462696G>T	uc010ybh.2	-	4	1069	c.978C>A	c.(976-978)gcC>gcA	p.A326A	SIGLEC11_uc010ybi.2_Silent_p.A326A	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	326	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTGAATCCCCGGCCCTTACCC	0.682000														26			15		4.7546e-09	1.90523e-08	0.000422831	1	0
PTPRN2	5799	broad.mit.edu	37	7	157985158	157985158	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:157985158C>T	uc003wno.3	-	4	531	c.410G>A	c.(409-411)aGg>aAg	p.R137K	PTPRN2_uc003wnp.3_Missense_Mutation_p.R120K|PTPRN2_uc003wnq.3_Missense_Mutation_p.R137K|PTPRN2_uc003wnr.3_Missense_Mutation_p.R99K|PTPRN2_uc011kwa.2_Missense_Mutation_p.R160K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	137						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E136K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTGTACCTCCTCTCGCTGCC	0.632000														40			25		0	0	0.0024448	0	0
C6	729	broad.mit.edu	37	5	41149356	41149356	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:41149356C>T	uc003jmk.2	-	16	2820	c.2610G>A	c.(2608-2610)tgG>tgA	p.W870*	C6_uc003jml.1_Nonsense_Mutation_p.W870*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	870	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AACATTTTTCCCAGTCATAGC	0.423000														152			95		0	0	0.000781405	0	0
KCNB1	3745	broad.mit.edu	37	20	47990861	47990861	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:47990861G>A	uc002xur.1	-	1	1402	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	KCNB1_uc002xus.1_Silent_p.I412I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	412					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTTATTGACGATGATGGGGA	0.512000														59			21		0	0	0.00188189	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270746	1270746	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:1270746G>A	uc002cks.3	+	34	7062	c.6814G>A	c.(6814-6816)Gac>Aac	p.D2272N	CACNA1H_uc002ckt.3_Missense_Mutation_p.D2266N|CACNA1H_uc002cku.3_Missense_Mutation_p.D967N|CACNA1H_uc010brj.3_Missense_Mutation_p.D983N|CACNA1H_uc002ckv.3_Missense_Mutation_p.D961N	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2272					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGAGCCGCTGGACCTCGGGGT	0.677000														10			13		0	0	0.00244969	0	0
LILRB4	11006	broad.mit.edu	37	19	55179408	55179408	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55179408C>A	uc002qgp.3	+	11	1647	c.1285C>A	c.(1285-1287)Cca>Aca	p.P429T	LILRB4_uc002qgq.3_Missense_Mutation_p.P428T|LILRB4_uc010ert.3_Missense_Mutation_p.P470T|LILRB4_uc010eru.3_Missense_Mutation_p.P459T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	429						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGAGCCTCCTCCATCCCAGGA	0.622000														47			24		1.32143e-28	5.3332e-28	0.00106085	1	0
TRIML1	339976	broad.mit.edu	37	4	189068190	189068190	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:189068190C>T	uc003izm.1	+	5	1186	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	TRIML1_uc003izn.1_Silent_p.I81I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	357	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGTGGGCATCTGCAAGGACT	0.532000														31			17		0	0	0.00074312	0	0
PSG3	5671	broad.mit.edu	37	19	43382238	43382238	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:43382238C>T	uc002ovd.1	-	1	395	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.G86D|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.G86D|PSG3_uc002ova.2_Missense_Mutation_p.G86D|PSG3_uc002ouz.2_Missense_Mutation_p.G86D|PSG3_uc002ovb.3_Missense_Mutation_p.G86D	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	86	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AATTATTTCACCGTCTACTAC	0.458000														193			98		0	0	0.000781405	0	0
ETV6	2120	broad.mit.edu	37	12	12022505	12022505	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:12022505C>T	uc001qzz.3	+	4	885	c.611C>T	c.(610-612)cCc>cTc	p.P204L	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	204						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTCCGGTCCCCCCTGGACAAC	0.632000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									70			40		0	0	0.0025221	0	0
SLC26A3	1811	broad.mit.edu	37	7	107415298	107415298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:107415298C>T	uc003ver.2	-	15	1908	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_uc003ves.2_Missense_Mutation_p.R531Q	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398000														50			35		0	0	0.00128727	0	0
CA6	765	broad.mit.edu	37	1	9017341	9017341	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:9017341C>T	uc001apm.3	+	2	429	c.405C>T	c.(403-405)atC>atT	p.I135I	CA6_uc009vmn.3_Silent_p.I75I	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	135					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GACATGTGATCGAGGTACCTG	0.507000														24			22		0	0	0.000720815	0	0
OR6A2	8590	broad.mit.edu	37	11	6816325	6816325	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:6816325G>A	uc001mes.1	-	0	815	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCCAGGATGAAATCTGTAA	0.493000														92			42		0	0	0.000680045	0	0
APEH	327	broad.mit.edu	37	3	49713332	49713332	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49713332G>A	uc010hkw.1	+	4	775	c.375G>A	c.(373-375)gaG>gaA	p.E125E	APEH_uc003cxf.3_Silent_p.E125E	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	125					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGTCTGGGAGAAGAACCGGA	0.567000														15			10		0	0	0.000442599	0	0
EVPL	2125	broad.mit.edu	37	17	74006472	74006472	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:74006472C>T	uc010wss.1	-	21	3108	c.2880G>A	c.(2878-2880)caG>caA	p.Q960Q	EVPL_uc002jqi.2_Silent_p.Q938Q|EVPL_uc010wst.1_Silent_p.Q408Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	938	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTTGGCTCCTCTGCGCCTCCA	0.662000														23			27		0	0	0.001512	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494276	21494276	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:21494276G>A	uc002wsi.3	-	0	389	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	11					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.S11L(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCCTTGACCGAAAACCCCGT	0.567000														43			27		0	0	0.00283554	0	0
NBEA	26960	broad.mit.edu	37	13	35733303	35733303	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:35733303G>A	uc021rid.1	+	21	3529	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	NBEA_uc021ric.1_Missense_Mutation_p.E999K|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	999						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)		AGGTGGAATGGAAATTCGAGA	0.428000														61			36		0	0	0.00148497	0	0
WDR72	256764	broad.mit.edu	37	15	53991959	53991959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:53991959C>T	uc002acj.2	-	12	1795	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	WDR72_uc010bfi.1_Missense_Mutation_p.E585K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	585										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTTCAATTTCCCAGATATAA	0.373000														93			43		0	0	0.000680045	0	0
MLL2	8085	broad.mit.edu	37	19	36223280	36223280	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36223280C>T	uc021usv.1	+	27	5830	c.5830C>T	c.(5830-5832)Cct>Tct	p.P1944S	MLL2_uc021usu.1_Missense_Mutation_p.P758S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	558					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						GGTGCCCCCTCCTACCTCAGT	0.672000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				9			8		0	0	0.000274275	0	0
BSN	8927	broad.mit.edu	37	3	49692341	49692341	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49692341C>T	uc003cxe.4	+	4	5466	c.5352C>T	c.(5350-5352)gcC>gcT	p.A1784A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1784					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCAGACAGCCCCATACCGAA	0.592000														10			22		0	0	0.00278032	0	0
EPHX1	2052	broad.mit.edu	37	1	226019506	226019506	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:226019506C>T	uc001hpk.3	+	2	290	c.210C>T	c.(208-210)ttC>ttT	p.F70F	EPHX1_uc001hpl.3_Silent_p.F70F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	70					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCGATAAGTTCCGTTTCACCC	0.488000														51			25		0	0	0.000720815	0	0
PDE6A	5145	broad.mit.edu	37	5	149324129	149324129	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:149324129G>A	uc003lrg.4	-	0	228	c.108C>T	c.(106-108)ctC>ctT	p.L36L	PDE6A_uc021yfs.1_Silent_p.L36L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	36					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGCCCCAAGGAGGTCGGAGA	0.557000														9			25		0	0	0.000586117	0	0
TERF2IP	54386	broad.mit.edu	37	16	75688173	75688173	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:75688173C>T	uc002fet.2	+	1	819	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA.	225	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TTTAACAGAACCACAGAATAA	0.418000														62			31		0	0	0.00283554	0	0
GFRA1	2674	broad.mit.edu	37	10	118029037	118029037	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:118029037G>A	uc001lcj.3	-	3	1094	c.396C>T	c.(394-396)ttC>ttT	p.F132F	GFRA1_uc001lci.3_Silent_p.F132F|GFRA1_uc009xyr.3_Silent_p.F132F	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	132					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGACCACCCGGAATATATCTG	0.418000														9			14		0	0	0.000422831	0	0
ANKRD36	375248	broad.mit.edu	37	2	97849224	97849224	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:97849224G>A	uc010yva.2	+	27	2110	c.1866_splice	c.e27+1	p.K622_splice	ANKRD36_uc010fic.2_Splice_Site_p.K341_splice|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Splice_Site|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	622										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGCCTGGAAGGTAGTTACTC	0.279000														7			3		0	0	0.000602214	0	0
ACOT11	26027	broad.mit.edu	37	1	55072900	55072900	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:55072900C>T	uc001cxm.2	+	13	1640	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	ACOT11_uc001cxj.2_Silent_p.F366F|ACOT11_uc001cxl.2_Silent_p.F488F	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	488	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCAGGACTTCGTGATCCTGG	0.627000														22			8		0	0	0.000442599	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45244853	45244853	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:45244853C>T	uc003bfd.3	+	14	1697	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.P386S|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.P300S|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.P264S|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.P264S|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.P295S|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.P264S|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CATTCACATCCCTGCCGTGAT	0.617000														75			40		0	0	0.00285205	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748170	19748170	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:19748170C>T	uc009zzj.3	-	4	1291	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	396					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACATGAGATCGAACTTATGG	0.642000														55			19		0	0	0.000720815	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450741	114450741	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:114450741C>T	uc001eeg.3	+	2	760	c.466C>T	c.(466-468)Cct>Tct	p.P156S	AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|DCLRE1B_uc001eeh.3_Missense_Mutation_p.P30S|DCLRE1B_uc001eei.3_Missense_Mutation_p.P30S	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	156					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGGTTCTTCCTTCCCGACA	0.463000								Other identified genes with known or suspected DNA repair function						66			30		0	0	0.00283554	0	0
PRR21	643905	broad.mit.edu	37	2	240981381	240981381	+	Missense_Mutation	SNP	G	A	A	rs143332815		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:240981381G>A	uc010zod.2	-	0	1019	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	340								p.S340L(3)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGACTTGGATGAAGAGGCATG	0.587000														57			42		0	0	0.00170553	0	0
CRB1	23418	broad.mit.edu	37	1	197398663	197398663	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:197398663G>A	uc001gtz.3	+	7	2970	c.2761G>A	c.(2761-2763)Gcc>Acc	p.A921T	CRB1_uc010poz.2_Missense_Mutation_p.A897T|CRB1_uc009wza.3_Missense_Mutation_p.A809T|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.A402T|CRB1_uc001gub.1_Missense_Mutation_p.A570T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	921	EGF-like 13.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAGTGGGAAAGCCTGTGAGGA	0.537000														44			33		0	0	0.0024448	0	0
MTUS2	23281	broad.mit.edu	37	13	29600708	29600708	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:29600708G>A	uc001usl.4	+	0	1961	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	625						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAAACAGAGGAGAGGACAGA	0.537000														21			15		0	0	0.000422831	0	0
DNAH10	196385	broad.mit.edu	37	12	124268667	124268667	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:124268667C>T	uc001uft.4	+	7	1015	c.990C>T	c.(988-990)ttC>ttT	p.F330F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	330	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATTCAAGTTCCACACGGAGG	0.488000														25			72		0	0	0.000781405	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139036	64139036	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:64139036G>A	uc004dvu.3	-	3	603	c.447C>T	c.(445-447)ccC>ccT	p.P149P	ZC4H2_uc004dvv.3_Silent_p.P126P|ZC4H2_uc022byd.1_Silent_p.P126P|ZC4H2_uc022byc.1_Silent_p.P126P|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Silent_p.P126P|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	149							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGGATGGGGGGCTCCTGAG	0.562000														5			17		0	0	0.00121646	0	0
FAM173B	134145	broad.mit.edu	37	5	10239213	10239213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:10239213G>A	uc003jeo.2	-	1	301	c.272C>T	c.(271-273)tCc>tTc	p.S91F	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.S91F	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	91						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTCCACAAGGGATCCTCTTCG	0.418000														89			55		0	0	0.000781405	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475286	50475286	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:50475286G>A	uc010ybk.1	+	2	317	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						AATGGAGCACGAAGGAGAGTT	0.677000														21			12		0	0	0.00136819	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841986	100841986	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100841986G>A	uc003uyc.3	-	3	581	c.414C>T	c.(412-414)ttC>ttT	p.F138F	MOGAT3_uc010lhr.3_Silent_p.F138F	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	138					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGAGCCCCGGGAAGAGCTGGG	0.597000														33			21		0	0	0.00047179	0	0
KCNN3	3782	broad.mit.edu	37	1	154698412	154698412	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:154698412C>T	uc021pah.1	-	5	2040	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N	KCNN3_uc001ffo.3_Missense_Mutation_p.D256N|KCNN3_uc001ffp.3_Missense_Mutation_p.D561N	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	566	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGCTGAGTGTCCATCATGAAG	0.572000														33			8		0	0	0.000157383	0	0
OR5L1	219437	broad.mit.edu	37	11	55579818	55579818	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:55579818G>A	uc001nhw.1	+	0	876	c.876G>A	c.(874-876)ctG>ctA	p.L292L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTACAGCCTGAGAAATAAAG	0.443000														20			18		0	0	0.00152264	0	0
C6orf170	221322	broad.mit.edu	37	6	121481218	121481218	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:121481218G>A	uc003pyo.1	-	23	2779	c.2711C>T	c.(2710-2712)tCa>tTa	p.S904L	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_Missense_Mutation_p.S3L|C6orf170_uc003pyp.1_Missense_Mutation_p.S464L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	904					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TGGATATGATGAAAACATTGG	0.303000														44			45		0	0	0.000781405	0	0
ADAM29	11086	broad.mit.edu	37	4	175897197	175897197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:175897197G>A	uc003iuc.3	+	4	1191	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	ADAM29_uc003iud.3_Missense_Mutation_p.R174Q|ADAM29_uc010irr.3_Missense_Mutation_p.R174Q|ADAM29_uc011cki.2_Missense_Mutation_p.R174Q|ADAM29_uc021xuo.1_Missense_Mutation_p.R174Q	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	174					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATAACATGCCGAATGGAATTT	0.363000														55			25		0	0	0.000720815	0	0
RRAS	6237	broad.mit.edu	37	19	50139924	50139924	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:50139924G>A	uc002pop.1	-	3	450	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_006270	NP_006261	P10301	RRAS_HUMAN	Homo sapiens related RAS viral (r-ras) oncogene homolog (RRAS), mRNA.	135					Ras protein signal transduction|axon guidance|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		ACACAACGGGGAAGTCGTCGC	0.607000														25			9		0	0	0.000274275	0	0
DEFB119	245932	broad.mit.edu	37	20	29965177	29965177	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:29965177C>T	uc002wvt.3	-	1	247	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_uc002wvs.3_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA.	43					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433000														87			52		0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10362699	10362699	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:10362699C>T	uc002gmn.3	-	14	1567	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	486	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCAGTTTCTCGTTGGTGAAG	0.433000														24			34		0	0	0.00128727	0	0
KCNK5	8645	broad.mit.edu	37	6	39159497	39159497	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:39159497G>A	uc003oon.3	-	4	1033	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	223					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGAAGTAGCGGTACAGGGCGT	0.562000														53			19		0	0	0.00278032	0	0
ADAM28	10863	broad.mit.edu	37	8	24207392	24207392	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:24207392T>G	uc003xdy.3	+	18	2089	c.2006T>G	c.(2005-2007)gTt>gGt	p.V669G	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.V356G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	669					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCCATTGTGGTTGGGGTGCTG	0.502000														124			7		0	0	0.000157383	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940176	68940176	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:68940176C>T	uc009xpn.1	-	6	1069	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CTNNA3_uc001jmw.2_Missense_Mutation_p.D316N|CTNNA3_uc001jmx.4_Missense_Mutation_p.D316N|CTNNA3_uc009xpo.1_Missense_Mutation_p.D176N|CTNNA3_uc001jna.2_Missense_Mutation_p.D328N	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	316					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATGAAGAATCCGCCAGCAGA	0.483000														16			27		0	0	0.000878237	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518865	113518865	+	Missense_Mutation	SNP	C	T	T	rs62001880	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:113518865C>T	uc010ljy.1	-	3	2313	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	761					glycogen metabolic process	integral to membrane		p.R761Q(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTGTCACTTCGTGCTGTCTC	0.413000														81			36		0	0	0.00222228	0	0
HOXA5	3202	broad.mit.edu	37	7	27181684	27181684	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:27181684C>T	uc003syn.2	-	1	644	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	195					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G195V(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GCCCTTTTGCCTTCCGGGCCG	0.567000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			9		0	0	0.000673444	0	0
KIF6	221458	broad.mit.edu	37	6	39563951	39563951	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:39563951C>T	uc003oot.2	-	6	820	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	KIF6_uc010jxa.1_Missense_Mutation_p.R33Q|KIF6_uc011dua.1_Missense_Mutation_p.R242Q|KIF6_uc010jxb.1_Missense_Mutation_p.R242Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	242	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTGGCATGTCGTACAGTTGC	0.463000														33			16		0	0	0.000422831	0	0
MYNN	55892	broad.mit.edu	37	3	169496853	169496853	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:169496853C>T	uc003ffu.3	+	3	1060	c.564C>T	c.(562-564)tcC>tcT	p.S188S	MYNN_uc011bpm.2_Silent_p.S74S|MYNN_uc003fft.3_Silent_p.S188S|MYNN_uc003ffv.3_5'UTR|MYNN_uc010hwo.3_Silent_p.S188S|MYNN_uc003ffw.1_Non-coding_Transcript	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTTTCAACTCCCCGAAAACAG	0.398000														39			14		0	0	0.00244969	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003354	23003354	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:23003354G>A	uc003xcz.1	-	4	655	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	188					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTTCCCAGTGGAACTGGCAGC	0.522000														45			46		0	0	0.000781405	0	0
ARL10	285598	broad.mit.edu	37	5	175793397	175793397	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:175793397G>A	uc003meb.3	+	1	263	c.198G>A	c.(196-198)gaG>gaA	p.E66E	ARL10_uc003mec.1_Silent_p.E66E	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	Homo sapiens ADP-ribosylation factor-like 10 (ARL10), mRNA.	66							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.0965)		AGGACGAGGAGGACGAGGAGC	0.692000														3			7		0	0	0.000157383	0	0
SAMD9	54809	broad.mit.edu	37	7	92735124	92735124	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:92735124G>A	uc003umf.3	-	2	557	c.287C>T	c.(286-288)cCt>cTt	p.P96L	SAMD9_uc003umg.3_Missense_Mutation_p.P96L|SAMD9_uc022ahg.1_Missense_Mutation_p.P96L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	96						cytoplasm		p.P96L(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGTCTTTAGGAGCATTTTT	0.388000														118			54		0	0	0.000781405	0	0
GABPB1	2553	broad.mit.edu	37	15	50570924	50570924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50570924G>A	uc001zyb.3	-	8	1517	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	GABPB1_uc001zya.3_Nonsense_Mutation_p.R353*|GABPB1_uc010ufg.2_Nonsense_Mutation_p.R289*	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	365					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R365Q(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						AGCTGCTGTCGATATTTTTGT	0.368000														77			40		0	0	0.00170553	0	0
PTPRC	5788	broad.mit.edu	37	1	198725200	198725200	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:198725200C>T	uc001gur.1	+	32	3985	c.3805C>T	c.(3805-3807)Ctc>Ttc	p.L1269F	PTPRC_uc001gut.1_Missense_Mutation_p.L1108F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1269					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAGAAAAGCTCCCTGAAGC	0.433000														58			23		0	0	0.00229938	0	0
AGAP1	116987	broad.mit.edu	37	2	237028968	237028969	+	Silent	DNP	CC	AT	AT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:237028968_237028969CC>AT	uc002vvs.3	+	16	2845_2846	c.2247_2248CC>AT	c.(2245-2250)atcctg>atATtg	p.749_750IL>IL	AGAP1_uc002vvt.3_Silent_p.696_697IL>IL	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	749					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGACGGCCATCCTGCTGCTGGC	0.713000														23			21		0	0	6.4e-05	0	0
NKG7	4818	broad.mit.edu	37	19	51875654	51875654	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:51875654C>T	uc002pwj.3	-	0	307	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	NKG7_uc002pwk.3_Missense_Mutation_p.G46R	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	46						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCCATGCCCTGTTGGCCAG	0.587000														60			28		0	0	0.00178596	0	0
TTN	7273	broad.mit.edu	37	2	179586730	179586730	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179586730C>T	uc021vsy.1	-	74	19153	c.18928G>A	c.(18928-18930)Gag>Aag	p.E6310K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2971K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7237	Ig-like 44.						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)			GGACGGATCTCCTTGTTATCT	0.413000														118			62		0	0	0.000781405	0	0
LRRC6	23639	broad.mit.edu	37	8	133595957	133595957	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:133595957C>T	uc003ytk.3	-	10	1284	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	LRRC6_uc022bbp.1_Missense_Mutation_p.E404K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	404						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGTTTGTTCTCTGCTCCTG	0.403000														42			22		0	0	0.00047179	0	0
abParts	0	broad.mit.edu	37	14	106967395	106967395	+	RNA	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:106967395G>A	uc021ser.1	-	263		c.10105C>T								Parts of antibodies, mostly variable regions.																		CCTCTAAACTGGAAAAAATCC	0.567000														23			38		0	0	0.000814825	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899729	128899729	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:128899729G>A	uc021rgn.1	+	1	538	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	180						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGAAACCAGAGAGGTGCGGGG	0.642000														2			5		0	0	0.00116845	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554476	20554476	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:20554476C>T	uc002dhj.4	-	11	1600	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D464N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D464N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	464					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.D464N(2)|p.D464D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAATGATATCATCTGCCCGT	0.507000														228			75		0	0	0.000781405	0	0
RALGPS2	55103	broad.mit.edu	37	1	178846662	178846663	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:178846662_178846663GA>AT	uc001glz.3	+	8	975_976	c.637_638GA>AT	c.(637-639)gat>ATt	p.D213I	RALGPS2_uc001gly.1_Missense_Mutation_p.D213I|RALGPS2_uc010pnb.2_Missense_Mutation_p.D213I	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	213	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.D213Y(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AACATACATCGATTCAGCATAC	0.337000														51			14		0	0	6.4e-05	0	0
ADAM18	8749	broad.mit.edu	37	8	39496021	39496021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:39496021C>T	uc003xni.3	+	9	920	c.865C>T	c.(865-867)Cct>Tct	p.P289S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P265S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	289	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P289S(2)|p.P289F(2)|p.P289L(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGCAACATTTCCTGGCACTGT	0.274000														41			26		0	0	0.0024448	0	0
BSN	8927	broad.mit.edu	37	3	49689342	49689342	+	Missense_Mutation	SNP	G	A	A	rs139369583		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49689342G>A	uc003cxe.4	+	4	2467	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	785					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGGAAGACGAAGACTCTGC	0.597000														12			12		0	0	0.00136819	0	0
STRADB	55437	broad.mit.edu	37	2	202343314	202343314	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:202343314C>T	uc002uyd.4	+	9	1425	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	STRADB_uc021vvb.1_Missense_Mutation_p.P354S	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	354	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GCAACAAGATCCTGAGAAAAG	0.363000														33			8		0	0	0.000274275	0	0
USP8	9101	broad.mit.edu	37	15	50741605	50741605	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50741605C>T	uc001zym.4	+	4	758	c.258C>T	c.(256-258)ttC>ttT	p.F86F	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.4_Silent_p.F86F|USP8_uc001zyn.4_Silent_p.F86F|USP8_uc010ufh.2_Intron|USP8_uc010bev.1_5'UTR	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	86	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGGATTATTTCCATTCAATAC	0.318000														17			12		0	0	0.00185496	0	0
IGDCC4	57722	broad.mit.edu	37	15	65687481	65687481	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:65687481C>T	uc002aou.1	-	7	1737	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	IGDCC4_uc002aot.1_Silent_p.L97L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	509	Fibronectin type-III 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCTGGCTCCCAGCTGGGAGT	0.557000														23			8		0	0	0.000274275	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513203	106513203	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:106513203A>T	uc003vdv.4	+	3	2192	c.2107A>T	c.(2107-2109)Ata>Tta	p.I703L	PIK3CG_uc003vdu.3_Missense_Mutation_p.I703L|PIK3CG_uc003vdw.3_Missense_Mutation_p.I703L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	703					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			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						GAGAAGTGAGATAGCCCAGTC	0.448000														55			33		0	0	0.00148497	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:34851465C>T	uc003teh.1	+	3	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F156F|NPSR1_uc010kwt.1_Silent_p.F3F|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.F156F|NPSR1_uc010kww.1_Silent_p.F145F|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000														58			44		0	0	0.000781405	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80972384	80972384	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:80972384C>T	uc002kgg.1	-	4	368	c.354G>A	c.(352-354)atG>atA	p.M118I	B3GNTL1_uc002kgf.1_5'UTR	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	118							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCTGGGGCATCATGACGTCAT	0.493000														53			31		0	0	0.000692331	0	0
CECR1	51816	broad.mit.edu	37	22	17684584	17684584	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:17684584C>T	uc002zmk.1	-	2	834	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CECR1_uc010gqu.1_Missense_Mutation_p.E208K|CECR1_uc011agi.1_Missense_Mutation_p.E166K|CECR1_uc011agj.1_Missense_Mutation_p.E166K	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	208	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAGATGGTTTCAAATTTCGAC	0.488000														44			6		0	0	0.00116845	0	0
STRC	161497	broad.mit.edu	37	15	43900142	43900142	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:43900142C>T	uc001zsf.3	-	17	3791	c.3713G>A	c.(3712-3714)aGg>aAg	p.R1238K	STRC_uc010bdl.3_Missense_Mutation_p.R465K|STRC_uc001zse.3_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1238					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CATTGCCATCCTCCGCTGTAG	0.552000														66			40		0	0	0.000781405	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518396	113518396	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:113518396G>A	uc010ljy.1	-	3	2782	c.2751C>T	c.(2749-2751)tcC>tcT	p.S917S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	917					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATGATGTTTGGAAAAAGGAG	0.393000														71			25		0	0	0.00047179	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				81			47		0	0	0.000781405	0	0
GPX6	257202	broad.mit.edu	37	6	28478531	28478531	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:28478531G>A	uc021yrx.1	-	1	288	c.238C>T	c.(238-240)Cct>Tct	p.P80S	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	80					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCTTACCAGGATACTGAGCT	0.473000														34			20		0	0	0.000958276	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399653	47399653	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47399653G>A	uc001cqp.4	-	8	1238	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	CYP4A11_uc001cqq.2_Missense_Mutation_p.P396L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	396					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAAGGTGACGGGAGTGCTGAG	0.582000														25			10		0	0	0.00136819	0	0
NRAP	4892	broad.mit.edu	37	10	115400007	115400007	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:115400007C>T	uc001lal.3	-	13	1571	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	NRAP_uc001laj.3_Missense_Mutation_p.M469I|NRAP_uc001lak.3_Missense_Mutation_p.M434I	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	469						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)		GCACCAGTTTCATAGCTGTTT	0.418000														23			42		0	0	0.000680045	0	0
KCTD21	283219	broad.mit.edu	37	11	77885399	77885399	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:77885399G>A	uc001ozb.3	-	1	277	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	KCTD21_uc021qnx.1_Missense_Mutation_p.L68F	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 21 (KCTD21), mRNA.	68	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGCAGGTCAAGGTGGGAGGTC	0.602000														24			13		0	0	0.00136819	0	0
ADAM19	8728	broad.mit.edu	37	5	156918648	156918648	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:156918648G>A	uc003lwz.3	-	17	2149	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	ADAM19_uc003lww.2_Silent_p.I423I|ADAM19_uc003lwy.3_Silent_p.I289I|ADAM19_uc011ddr.1_Silent_p.I621I	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	690					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCCACTGTCGATACTGCCCC	0.637000														4			6		0	0	0.00198382	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619805	28619805	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:28619805G>A	uc002dqn.3	-	5	1133	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.P90S|SULT1A1_uc002dqi.3_Missense_Mutation_p.P90S|SULT1A1_uc002dqk.3_Missense_Mutation_p.P90S|SULT1A1_uc002dql.3_Missense_Mutation_p.P90S|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Missense_Mutation_p.P90S	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	90				E -> G (in Ref. 5; CAA59147).	3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ACACCTGAGGGAATCCCTGGG	0.587000														24			10		0	0	0.000978159	0	0
C1orf129	80133	broad.mit.edu	37	1	170961410	170961410	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:170961410G>A	uc010plz.2	+	11	1288	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	C1orf129_uc001ghg.3_Silent_p.E378E|C1orf129_uc009wvy.3_Silent_p.E185E	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	378							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGAAATGGAGGACACCGTAA	0.468000														54			23		0	0	0.000586117	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671742	176671742	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:176671742G>A	uc001gkz.3	+	9	4401	c.3237_splice	c.e9-1	p.V1079_splice	PAPPA2_uc009www.3_Splice_Site	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1079					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTTCCACAGGGAGGTCACA	0.498000														28			13		0	0	0.00136819	0	0
SERPINA13	388007	broad.mit.edu	37	14	95111306	95111306	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:95111306C>T	uc001ydt.3	+	3	1126	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						AACTCGATTTCCACTTCCCCA	0.542000														37			4		0	0	0.00116845	0	0
X97876	0	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	G	G	rs141617852	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:66499716A>G	uc004aee.1	+	0	526	c.526A>G	c.(526-528)Aat>Gat	p.N176D	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCTGGAGCCCAATCTGCTGGA	0.607000														44			9		0	0	0.000673444	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433273	104433273	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:104433273C>T	uc004bbp.2	-	2	2022	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E	GRIN3A_uc004bbq.1_Missense_Mutation_p.G474E	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	474					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATTGGCTTTCCCATGGGGTC	0.502000														52			63		0	0	0.000781405	0	0
NLRP7	199713	broad.mit.edu	37	19	55451105	55451105	+	Missense_Mutation	SNP	G	A	A	rs143169084	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55451105G>A	uc002qih.4	-	3	1158	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	NLRP7_uc010esk.3_Missense_Mutation_p.S361L|NLRP7_uc002qig.4_Missense_Mutation_p.S361L|NLRP7_uc002qii.4_Missense_Mutation_p.S361L|NLRP7_uc010esl.3_Missense_Mutation_p.S389L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	361	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGCGGGGGCCGAGCCCAGCTG	0.632000														27			18		0	0	0.00229938	0	0
ROS1	6098	broad.mit.edu	37	6	117714445	117714445	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:117714445C>T	uc003pxp.1	-	10	1403	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	402					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAGTAATTTCCTCGATGTTT	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									85			155		0	0	0.000781405	0	0
PIK3R5	23533	broad.mit.edu	37	17	8790475	8790475	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:8790475C>T	uc002glt.3	-	11	1910	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	PIK3R5_uc010vuz.2_Missense_Mutation_p.D615N|PIK3R5_uc021tqc.1_Missense_Mutation_p.D229N|PIK3R5_uc010cob.2_Missense_Mutation_p.D229N|PIK3R5_uc010coa.2_Missense_Mutation_p.D229N|PIK3R5_uc002glu.4_Missense_Mutation_p.D229N	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	615					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TACCAGGGGTCCAGCATGCCG	0.612000														12			17		0	0	0.00074312	0	0
OR51B5	282763	broad.mit.edu	37	11	5364484	5364484	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:5364484C>T	uc001map.1	-	0	271	c.271G>A	c.(271-273)Gga>Aga	p.G91R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.G91R	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGCACTTCCAATCTCCCTG	0.552000														21			17		0	0	0.000422831	0	0
SCN11A	11280	broad.mit.edu	37	3	38950496	38950496	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:38950496C>T	uc021wvy.1	-	8	1490	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	431					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACCTCCTTTTCCTCCTTTAAC	0.532000														23			40		0	0	0.00195071	0	0
KCNB2	9312	broad.mit.edu	37	8	73848737	73848737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:73848737G>A	uc003xzb.3	+	2	1735	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	383					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GACCACTGTTGGCTATGGTGA	0.453000														55			34		0	0	0.000692331	0	0
CDH4	1002	broad.mit.edu	37	20	60498655	60498655	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:60498655C>T	uc002ybn.2	+	9	1609	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	CDH4_uc002ybr.2_Silent_p.F470F|CDH4_uc002ybp.2_Silent_p.F433F	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	507	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTCCCTACTTCCCCTCAAACC	0.627000														7			6		0	0	0.00116845	0	0
C1orf168	199920	broad.mit.edu	37	1	57257776	57257776	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:57257776C>T	uc001cym.4	-	1	1116	c.710G>A	c.(709-711)aGc>aAc	p.S237N	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.S237N	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	237										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTGGCAGGGGCTGCTTGCCGG	0.498000														61			35		0	0	0.00283554	0	0
abParts	0	broad.mit.edu	37	14	106586352	106586352	+	RNA	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:106586352C>T	uc021ser.1	-	1811		c.33944G>A			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAGGTGAATCCAGAGGCTGCA	0.567000														51			5		0	0	0.00116845	0	0
DHCR7	1717	broad.mit.edu	37	11	71146507	71146507	+	Missense_Mutation	SNP	C	T	T	rs80338864		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:71146507C>T	uc001oqk.3	-	8	1592	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	DHCR7_uc001oql.3_Missense_Mutation_p.E448K	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	448			E -> K (in SLOS; mild).|E -> Q (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGCGGTGCTCGTCCCGGAGG	0.667000									Smith-Lemli-Opitz syndrome					20			21		0	0	0.00152264	0	0
HECW2	57520	broad.mit.edu	37	2	197184087	197184087	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:197184087C>T	uc002utm.1	-	8	1710	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	HECW2_uc002utl.1_Silent_p.E153E	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	509					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E509K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAGGGTTGTCCTCCAGCTTTG	0.517000														28			12		0	0	0.000978159	0	0
PLCB4	5332	broad.mit.edu	37	20	9434089	9434089	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:9434089G>A	uc021wam.1	+	28	2955	c.2940G>A	c.(2938-2940)gaG>gaA	p.E980E	PLCB4_uc010gbw.1_Silent_p.E980E|PLCB4_uc010gbx.3_Silent_p.E992E|PLCB4_uc021wal.1_Silent_p.E980E|PLCB4_uc002wnh.3_Silent_p.E827E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	980					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATCCTAGAGAAGGCAATGA	0.388000														23			19		0	0	0.00121646	0	0
NTF3	4908	broad.mit.edu	37	12	5603428	5603428	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:5603428C>T	uc001qnl.4	+	0	131	c.48C>T	c.(46-48)atC>atT	p.I16I	NTF3_uc001qnk.4_Silent_p.I29I	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	16					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TCCGTGGCATCCAAGGTAACA	0.418000														49			18		0	0	0.000958276	0	0
TMEM62	80021	broad.mit.edu	37	15	43446960	43446960	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:43446960C>T	uc001zqr.3	+	8	1392	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	TMEM62_uc010bda.3_Silent_p.P241P	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	371						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGTCTGGTCCCATTTTCGTAC	0.378000														22			12		0	0	0.000978159	0	0
MED12	9968	broad.mit.edu	37	X	70356322	70356322	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:70356322G>A	uc004dyy.3	+	36	5416	c.5217G>A	c.(5215-5217)ctG>ctA	p.L1739L	MED12_uc011mpq.1_Silent_p.L1739L|MED12_uc004dyz.3_Silent_p.L1739L|MED12_uc004dza.3_Silent_p.L1586L|MED12_uc010nla.3_Silent_p.L365L	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1739	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTATTACCTGGAGCCACTGC	0.637000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							3			9		0	0	0.000442599	0	0
ZNF560	147741	broad.mit.edu	37	19	9579859	9579859	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9579859C>T	uc002mlp.1	-	8	744	c.534G>A	c.(532-534)tgG>tgA	p.W178*	ZNF560_uc010dwr.1_Nonsense_Mutation_p.W72*	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	178	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGCACATTTTCCATTCTGAAA	0.289000														8			10		0	0	0.000673444	0	0
DAGLA	747	broad.mit.edu	37	11	61504776	61504776	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:61504776C>T	uc001nsa.3	+	13	1610	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	498					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTGCCTACTCCCCGCCAGGGG	0.657000														105			70		0	0	0.000781405	0	0
KCNQ4	9132	broad.mit.edu	37	1	41283874	41283874	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:41283874C>T	uc001cgh.2	+	2	526	c.444C>T	c.(442-444)atC>atT	p.I148I	KCNQ4_uc001cgi.2_Silent_p.I148I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	148					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)			TGGAGTACATCGTCCGGGTCT	0.607000														56			25		0	0	0.000720815	0	0
DAGLA	747	broad.mit.edu	37	11	61511889	61511889	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:61511889C>T	uc001nsa.3	+	19	3173	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	1019					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.I1019I(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGACAAGATCCGGACTTCTA	0.662000														22			17		0	0	0.00074312	0	0
SLC25A29	123096	broad.mit.edu	37	14	100758856	100758856	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:100758856G>A	uc010twx.2	-	2	923	c.609C>T	c.(607-609)ccC>ccT	p.P203P	SLC25A29_uc010avv.3_Missense_Mutation_p.P160S|SLC25A29_uc001yha.3_Missense_Mutation_p.P226S			Q8N8R3	MCATL_HUMAN	Homo sapiens solute carrier family 25, member 29 (SLC25A29), nuclear gene encoding mitochondrial protein, mRNA.	0						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	CGGTAGCGCGGGGCGCCCCGC	0.706000														4			5		0	0	0.00116845	0	0
NUCB1	4924	broad.mit.edu	37	19	49416361	49416361	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:49416361G>A	uc002plb.4	+	5	908	c.574G>A	c.(574-576)Gag>Aag	p.E192K	NUCB1_uc002pla.3_Missense_Mutation_p.E192K|Mir_324_uc021uxb.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	192						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GCGTTATCTGGAGTCACTGGG	0.597000														51			27		0	0	0.001512	0	0
SMYD1	150572	broad.mit.edu	37	2	88402627	88402627	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:88402627G>A	uc002ssr.3	+	6	1024	c.939G>A	c.(937-939)ttG>ttA	p.L313L	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Silent_p.L9L	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGATACATTGGAAAAGATAG	0.458000														55			36		0	0	0.00148497	0	0
TTN	7273	broad.mit.edu	37	2	179590565	179590565	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179590565G>A	uc021vsy.1	-	66	16977	c.16752C>T	c.(16750-16752)atC>atT	p.I5584I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I2245I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6511	Ig-like 36.						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)			GGTATTCACCGATGTCTGAAG	0.388000														51			34		0	0	0.000953801	0	0
IL1R2	7850	broad.mit.edu	37	2	102638686	102638686	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:102638686C>T	uc002tbm.3	+	5	955	c.726C>T	c.(724-726)ccC>ccT	p.P242P	IL1R2_uc002tbn.3_Silent_p.P242P|IL1R2_uc002tbo.1_Silent_p.P242P	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	242	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCATTTCCCCCCTCAAGACCA	0.498000														110			40		0	0	0.00195071	0	0
AMBP	259	broad.mit.edu	37	9	116840465	116840465	+	Silent	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:116840465A>G	uc004bie.4	-	0	288	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	AMBP_uc011lxk.2_5'Flank|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	9					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTCAGCAGCAAGAGCAGGGCC	0.617000														23			26		0	0	0.001512	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887635	9887635	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:9887635G>A	uc002koi.4	+	1	1608	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S	TXNDC2_uc002koh.4_Missense_Mutation_p.G320S|TXNDC2_uc021ugx.1_Missense_Mutation_p.G320S	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	387	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAAGGAGGGTGACATTCC	0.567000														32			18		0	0	0.00152264	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564961	61564961	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:61564961G>A	uc010xeu.2	+	6	751	c.418_splice	c.e6-1	p.E140_splice	SERPINB2_uc002ljo.3_Splice_Site_p.E140_splice|SERPINB2_uc002ljp.1_Splice_Site|SERPINB2_uc002ljq.1_Splice_Site	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	140					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGCTTTAAAGGAATATATTCG	0.378000														36			21		0	0	0.000586117	0	0
CDH10	1008	broad.mit.edu	37	5	24505343	24505343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:24505343C>T	uc003jgr.2	-	7	1777	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	CDH10_uc011cnu.2_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	424	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCAGTATGGCGATCCAAGGA	0.368000										HNSCC(23;0.051)				35			25		0	0	0.000720815	0	0
HEPH	9843	broad.mit.edu	37	X	65427071	65427071	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:65427071C>T	uc011moz.2	+	13	2625	c.2488C>T	c.(2488-2490)Ctc>Ttc	p.L830F	HEPH_uc004dwn.3_Missense_Mutation_p.L779F|HEPH_uc004dwo.3_Missense_Mutation_p.L509F|HEPH_uc010nkr.3_Missense_Mutation_p.L587F|HEPH_uc011mpa.2_Missense_Mutation_p.L779F|HEPH_uc010nks.3_Missense_Mutation_p.L68F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	776	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A830V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAAGGATGGGCTCCTGGGTTC	0.448000														8			18		0	0	0.00229938	0	0
XKR6	286046	broad.mit.edu	37	8	10756103	10756104	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:10756103_10756104AG>GA	uc003wtk.1	-	2	1311_1312	c.1284_1285CT>TC	c.(1282-1287)ttctgc>ttTCgc	p.C429R		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	429						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TTAAACCAGCAGAAAATGTACA	0.480000														19			14		0	0	6.4e-05	0	0
SON	6651	broad.mit.edu	37	21	34927526	34927526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:34927526C>T	uc002yse.1	+	2	6038	c.5989C>T	c.(5989-5991)Cgc>Tgc	p.R1997C	SON_uc002ysb.1_Missense_Mutation_p.R1997C|SON_uc002ysc.3_Missense_Mutation_p.R1997C|SON_uc002ysd.3_Missense_Mutation_p.R988C|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.R988C	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1997	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						caccccaagccgccgGAGAAG	0.642000														40			20		0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179474029	179474029	+	Silent	SNP	G	A	A	rs144507270	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179474029G>A	uc021vsy.1	-	221	44529	c.44304C>T	c.(44302-44304)gtC>gtT	p.V14768V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V8463V|TTN_uc021vta.1_Silent_p.V8396V|TTN_uc021vtb.1_Silent_p.V8271V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15695	Fibronectin type-III 6.						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)			GAGAATCTCGGACGCGTAGCT	0.453000														25			11		0	0	0.000978159	0	0
WNK1	65125	broad.mit.edu	37	12	971408	971408	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:971408C>T	uc021qss.1	+	7	2754	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	WNK1_uc001qio.4_Missense_Mutation_p.P704L|WNK1_uc021qst.1_Missense_Mutation_p.P704L|WNK1_uc001qip.4_Missense_Mutation_p.P704L|WNK1_uc001qir.4_Missense_Mutation_p.P151L	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	704					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGTCTCAGCCCCATGGGGTA	0.433000														32			22		0	0	0.000720815	0	0
BSN	8927	broad.mit.edu	37	3	49689299	49689299	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:49689299C>T	uc003cxe.4	+	4	2424	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	770					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGCCTGAGGCCTTTGACTCTG	0.632000														7			13		0	0	0.00185496	0	0
DYSF	8291	broad.mit.edu	37	2	71895914	71895914	+	Missense_Mutation	SNP	C	T	T	rs145832952		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:71895914C>T	uc010fen.3	+	48	5629	c.5488C>T	c.(5488-5490)Ccg>Tcg	p.P1830S	DYSF_uc010fei.3_Missense_Mutation_p.P1808S|DYSF_uc010feh.3_Missense_Mutation_p.P1798S|DYSF_uc002sig.4_Missense_Mutation_p.P1777S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1822S|DYSF_uc010fee.3_Missense_Mutation_p.P1812S|DYSF_uc010fef.3_Missense_Mutation_p.P1829S|DYSF_uc002sie.3_Missense_Mutation_p.P1791S|DYSF_uc010feo.3_Missense_Mutation_p.P1823S|DYSF_uc010fej.3_Missense_Mutation_p.P1799S|DYSF_uc010fel.3_Missense_Mutation_p.P1778S|DYSF_uc010fem.3_Missense_Mutation_p.P1813S|DYSF_uc002sif.3_Missense_Mutation_p.P1792S|DYSF_uc010fek.3_Missense_Mutation_p.P1809S|DYSF_uc010yqy.2_Missense_Mutation_p.P672S|DYSF_uc010yqz.2_Missense_Mutation_p.P552S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1791						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.P1791S(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGACCTATTTCCGAAGGCCCT	0.617000														8			7		0	0	0.00198382	0	0
GPX5	2880	broad.mit.edu	37	6	28500198	28500198	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:28500198G>A	uc003nll.2	+	4	461	c.459_splice	c.e4+1	p.K153_splice	GPX5_uc003nlm.2_Splice_Site|GPX5_uc003nln.2_Splice_Site	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	153					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TTTCTTGAAGGTGAGTAAATT	0.453000														23			9		0	0	0.000442599	0	0
PPHLN1	51535	broad.mit.edu	37	12	42839994	42839994	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:42839994C>T	uc001rng.1	+	11	1357	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	PPHLN1_uc010skr.1_3'UTR|PPHLN1_uc010sks.1_Nonsense_Mutation_p.Q369*|PPHLN1_uc010skt.1_Nonsense_Mutation_p.Q323*|PPHLN1_uc001rni.1_Nonsense_Mutation_p.Q394*|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	418					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		gaagacaactcaggaggctga	0.547000														5			4		0	0	0.00024832	0	0
MYO18B	84700	broad.mit.edu	37	22	26165122	26165122	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:26165122G>A	uc003abz.1	+	3	1489	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	MYO18B_uc003aca.1_Silent_p.E294E|MYO18B_uc010guy.1_Silent_p.E294E|MYO18B_uc010guz.1_Silent_p.E294E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	413						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTCAGACAGAGAAGGGCTGTG	0.612000														13			4		0	0	0.00024832	0	0
BC039356	0	broad.mit.edu	37	1	227618339	227618339	+	RNA	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:227618339C>T	uc001hqv.3	+	3		c.1574C>T								Homo sapiens cDNA clone IMAGE:5270051.																		GGCTGTGGGTCGAAGATATGC	0.502000														26			12		0	0	0.00244969	0	0
MARK3	4140	broad.mit.edu	37	14	103932026	103932026	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:103932026C>T	uc001ymz.4	+	7	1339	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	MARK3_uc001ymx.4_Nonsense_Mutation_p.Q225*|MARK3_uc001ymw.4_Nonsense_Mutation_p.Q225*|MARK3_uc001yna.4_Nonsense_Mutation_p.Q225*|MARK3_uc001ymy.4_Intron|MARK3_uc010awp.3_Nonsense_Mutation_p.Q248*|MARK3_uc010tyb.2_Nonsense_Mutation_p.Q36*|MARK3_uc021sef.1_Nonsense_Mutation_p.Q36*	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	225	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TGAGCTCTTCCAGGGCAAGAA	0.468000														93			8		0	0	0.000442599	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325114	79325114	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:79325114G>A	uc010mpk.3	-	7	2200	c.2076C>T	c.(2074-2076)agC>agT	p.S692S	PRUNE2_uc022bih.1_Silent_p.S514S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	692					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATCAATGGAGCTTGGCTTAT	0.448000														5			6		0	0	0.00116845	0	0
SCN11A	11280	broad.mit.edu	37	3	38888196	38888196	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:38888196G>A	uc021wvy.1	-	25	5564	c.5365C>T	c.(5365-5367)Cac>Tac	p.H1789Y		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1789					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTCACAGTGGACCTTGCCC	0.547000														19			20		0	0	0.00278032	0	0
POM121L12	285877	broad.mit.edu	37	7	53104225	53104225	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:53104225C>T	uc003tpz.3	+	0	877	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	287										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTCGAGGTCACCCAGTCTG	0.622000														30			15		0	0	0.00074312	0	0
BRD1	23774	broad.mit.edu	37	22	50169268	50169268	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:50169268G>A	uc011arg.2	-	11	3125	c.3111C>T	c.(3109-3111)ctC>ctT	p.L1037L	BRD1_uc011arf.2_Silent_p.L714L|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.L988L|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.L1119L	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	988					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAAAGAGAACGAGGAACAGCT	0.587000														97			68		0	0	0.000781405	0	0
RALYL	138046	broad.mit.edu	37	8	85774565	85774565	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:85774565C>T	uc003yct.4	+	5	621	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	RALYL_uc003ycq.4_Missense_Mutation_p.P150S|RALYL_uc003ycr.4_Missense_Mutation_p.P150S|RALYL_uc003ycs.4_Missense_Mutation_p.P150S|RALYL_uc010lzy.3_Missense_Mutation_p.P139S|RALYL_uc003ycu.4_Missense_Mutation_p.P77S	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	150							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCCTCCACCTCCCCGTGCAGT	0.493000														13			4		0	0	0.00024832	0	0
LRTM1	57408	broad.mit.edu	37	3	54952869	54952869	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:54952869T>A	uc003dhl.3	-	2	789	c.655A>T	c.(655-657)Aag>Tag	p.K219*	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	219	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGAGGTCCTTTCCCTTCCAG	0.527000														6			12		0	0	0.000978159	0	0
PYGM	5837	broad.mit.edu	37	11	64525338	64525338	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:64525338C>T	uc001oax.4	-	4	1390	c.573G>A	c.(571-573)gaG>gaA	p.E191E	PYGM_uc001oay.4_Silent_p.E103E	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	191					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCCGGGCCTTCTCCCAGGGGT	0.612000														33			12		0	0	0.000308642	0	0
USP50	373509	broad.mit.edu	37	15	50830987	50830987	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:50830987G>A	uc021sky.1	-	4	902	c.722C>T	c.(721-723)tCc>tTc	p.S241F	USP50_uc021skx.1_Missense_Mutation_p.S143F	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	241					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TTCACAAAAGGAGCAGTGAAT	0.373000														23			24		0	0	0.000720815	0	0
CCDC132	55610	broad.mit.edu	37	7	92978050	92978050	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:92978050C>T	uc003umo.3	+	23	2363	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	CCDC132_uc003ump.3_Silent_p.F715F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.F465F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	745										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTTTGAGTTCCTTCAGCCAC	0.413000														72			31		0	0	0.000692331	0	0
ERC2	26059	broad.mit.edu	37	3	56468884	56468884	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:56468884G>A	uc021wzo.1	-	0	292	c.152C>T	c.(151-153)tCc>tTc	p.S51F	ERC2_uc003dhr.1_Missense_Mutation_p.S51F	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	51						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGCATTGAGGGACTGGATATT	0.532000														36			26		0	0	0.000878237	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20896269	20896269	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:20896269C>T	uc010sii.2	+	13	2119	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	SLCO1C1_uc010sij.2_Silent_p.A539A|SLCO1C1_uc009zip.3_Silent_p.A422A|SLCO1C1_uc001rei.3_Silent_p.A588A|SLCO1C1_uc010sik.2_Silent_p.A470A	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	588					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)					AGTCTTTTGCCTTGGGTATCT	0.308000														140			71		0	0	0.000781405	0	0
SLC12A9	56996	broad.mit.edu	37	7	100460418	100460419	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100460418_100460419GG>AA	uc003uwp.3	+	12	1969_1970	c.1827_1828GG>AA	c.(1825-1830)ggggct>ggAAct	p.A610T	SLC12A9_uc003uwq.3_Missense_Mutation_p.A521T|SLC12A9_uc011kki.2_Missense_Mutation_p.A141T|SLC12A9_uc003uwr.3_Missense_Mutation_p.A346T|SLC12A9_uc003uws.3_Missense_Mutation_p.A141T|SLC12A9_uc003uwt.3_Missense_Mutation_p.A346T|SLC12A9_uc003uwv.3_Missense_Mutation_p.A141T	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	610						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCGCCAGGGGGCTCAGCATCT	0.634000														52			20		0	0	6.4e-05	0	0
MYO5C	55930	broad.mit.edu	37	15	52497127	52497127	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:52497127C>T	uc010bff.3	-	37	4917	c.4755G>A	c.(4753-4755)gcG>gcA	p.A1585A	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1585	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCAGCGTGACCGCCCCGATCA	0.577000														15			7		0	0	0.00198382	0	0
P2RX6	9127	broad.mit.edu	37	22	21377663	21377663	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:21377663C>T	uc010gsu.1	+	6	738	c.738C>T	c.(736-738)ctC>ctT	p.L246L	P2RX6_uc002ztz.2_Silent_p.L220L|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	246					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TTGGGGACCTCGTGGCCAAGG	0.627000														31			16		0	0	0.000566183	0	0
VPS13C	54832	broad.mit.edu	37	15	62241655	62241655	+	Silent	SNP	G	A	A	rs80151244	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:62241655G>A	uc002agz.3	-	41	4837	c.4746C>T	c.(4744-4746)atC>atT	p.I1582I	VPS13C_uc002aha.3_Silent_p.I1539I|VPS13C_uc002ahb.2_Silent_p.I1582I|VPS13C_uc002ahc.2_Silent_p.I1539I	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1582					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						CTTTGACAGCGATACTTCTGG	0.348000														63			38		0	0	0.00128727	0	0
TDRD5	163589	broad.mit.edu	37	1	179631372	179631372	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:179631372G>A	uc010pnp.2	+	14	2974	c.2456G>A	c.(2455-2457)aGc>aAc	p.S819N	TDRD5_uc021pfm.1_Missense_Mutation_p.S765N|TDRD5_uc001gnf.2_Missense_Mutation_p.S765N|TDRD5_uc021pfn.1_Missense_Mutation_p.S819N|TDRD5_uc001gnh.2_Missense_Mutation_p.S320N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	810					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.Q818*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTACTGCAAGCCTTGGTGGA	0.448000														43			9		0	0	0.000978159	0	0
KDM3A	55818	broad.mit.edu	37	2	86711263	86711263	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:86711263G>T	uc002sri.4	+	18	3403	c.3076G>T	c.(3076-3078)Gga>Tga	p.G1026*	KDM3A_uc010ytj.2_Nonsense_Mutation_p.G1026*|KDM3A_uc010ytk.2_Nonsense_Mutation_p.G974*	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	1026					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTTCTGGGATGGATTTGAAGA	0.453000														22			25		1.96895e-08	7.8786e-08	0.00278032	1	0
POU4F2	5458	broad.mit.edu	37	4	147561591	147561591	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:147561591G>A	uc003ikv.3	+	1	1109	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	287	POU-specific.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCAACCTCAAGATCCCCGGCG	0.627000														23			8		0	0	0.000442599	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868809	89868809	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:89868809G>A	uc001pdf.4	+	1	274	c.165G>A	c.(163-165)atG>atA	p.M55I	NAALAD2_uc009yvx.3_Missense_Mutation_p.M55I|NAALAD2_uc009yvy.3_Missense_Mutation_p.M55I|NAALAD2_uc001pdd.2_Missense_Mutation_p.M55I|NAALAD2_uc001pde.3_Missense_Mutation_p.M55I	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	55					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TATCCGAAATGAAAGCTGAAA	0.328000														47			31		0	0	0.000692331	0	0
OR5F1	338674	broad.mit.edu	37	11	55761613	55761613	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:55761613G>A	uc010riv.2	-	0	489	c.489C>T	c.(487-489)gtC>gtT	p.V163V		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACAAGCTGCTGACATGGCTTG	0.473000														49			34		0	0	0.000692331	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111825284	111825284	+	RNA	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:111825284G>A	uc009wgb.3	+	2		c.1047G>A								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		TGACGGGCTGGACTTTGACTG	0.517000														25			22		0	0	0.00047179	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965621	88965621	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:88965621C>T	uc011khi.2	+	3	3863	c.3325C>T	c.(3325-3327)Cat>Tat	p.H1109Y		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1109						intracellular	zinc ion binding	p.H1109Y(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCATATAAATCATGTAGAGGG	0.368000										HNSCC(36;0.09)				38			19		0	0	0.00121646	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059832	79059832	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:79059832C>T	uc002bej.4	-	17	2959	c.2748G>A	c.(2746-2748)caG>caA	p.Q916Q	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	916	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						CCAGGGCGCTCTGCTCATCCA	0.706000														15			8		0	0	0.000274275	0	0
SLC36A1	206358	broad.mit.edu	37	5	150838400	150838400	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:150838400C>T	uc003luc.3	+	1	264	c.47C>T	c.(46-48)tCc>tTc	p.S16F	SLC36A1_uc003lub.1_Missense_Mutation_p.S16F|SLC36A1_uc010jhw.1_Missense_Mutation_p.S16F	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	16					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GACTACAGCTCCACGGACGTG	0.592000														8			27		0	0	0.000586117	0	0
STON2	85439	broad.mit.edu	37	14	81736942	81736942	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:81736942G>A	uc010tvu.2	-	4	2883	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	STON2_uc001xvk.1_Intron|STON2_uc010tvt.2_Silent_p.F692F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	895					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGGCTAAAAGGAATAAGAGGG	0.468000														70			48		0	0	0.000781405	0	0
FMN2	56776	broad.mit.edu	37	1	240371478	240371478	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:240371478C>T	uc010pye.2	+	5	3603	c.3378C>T	c.(3376-3378)ccC>ccT	p.P1126P	FMN2_uc010pyd.2_Silent_p.P1122P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1122	FH1.|Pro-rich.				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)			CCCCTCCTCCCCCTCTACCCG	0.721000														6			8		0	0	0.00136819	0	0
ADAM2	2515	broad.mit.edu	37	8	39624518	39624518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:39624518G>T	uc003xnj.3	-	13	1431	c.1356C>A	c.(1354-1356)tgC>tgA	p.C452*	ADAM2_uc003xnk.3_Nonsense_Mutation_p.C433*|ADAM2_uc011lck.2_Nonsense_Mutation_p.C452*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.C326*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	452	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E451*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398000														66			35		2.75727e-19	1.11122e-18	0.000953801	1	0
FLG2	388698	broad.mit.edu	37	1	152325386	152325386	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152325386C>T	uc001ezw.4	-	2	4949	c.4876G>A	c.(4876-4878)Gat>Aat	p.D1626N	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1626							calcium ion binding|structural molecule activity	p.G1625R(1)		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)			CCAGTGGTATCTCCTATCTGT	0.507000														133			101		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82453723	82453723	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:82453723C>T	uc003uhx.2	-	18	14714	c.14425G>A	c.(14425-14427)Gat>Aat	p.D4809N	PCLO_uc003uhv.2_Missense_Mutation_p.D4809N|PCLO_uc003uht.1_Missense_Mutation_p.D251N|PCLO_uc003uhu.1_Missense_Mutation_p.D230N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4671					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGATAAATCAATCAATACC	0.328000														38			23		0	0	0.00047179	0	0
SLFN12	55106	broad.mit.edu	37	17	33738894	33738894	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:33738894G>A	uc002hji.4	-	3	1577	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	SLFN12_uc002hjj.4_Silent_p.F400F|SLFN12_uc010cts.3_Silent_p.F400F	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	400							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGTTGTAAGAACAGTTTTC	0.378000														31			49		0	0	0.000781405	0	0
CHRM2	1129	broad.mit.edu	37	7	136700475	136700475	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:136700475C>T	uc003vtf.1	+	3	1486	c.863C>T	c.(862-864)tCa>tTa	p.S288L	CHRM2_uc003vtg.1_Missense_Mutation_p.S288L|CHRM2_uc003vti.1_Missense_Mutation_p.S288L|CHRM2_uc003vtm.1_Missense_Mutation_p.S288L|CHRM2_uc003vtj.1_Missense_Mutation_p.S288L|CHRM2_uc003vtk.1_Missense_Mutation_p.S288L|CHRM2_uc003vtl.1_Missense_Mutation_p.S288L|CHRM2_uc003vtn.1_Missense_Mutation_p.S288L|CHRM2_uc003vto.1_Missense_Mutation_p.S288L|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S288L	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	288					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GACTCCACCTCAGTCAGTGCT	0.478000														42			29		0	0	0.00178596	0	0
ALDH2	217	broad.mit.edu	37	12	112219760	112219760	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:112219760G>A	uc001tst.3	+	1	249	c.153G>A	c.(151-153)agG>agA	p.R51R	ALDH2_uc010syi.2_Silent_p.R51R	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	51					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.R51K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCGTCAGCAGGAAAACATTCC	0.483000			T	HMGA2	leiomyoma									15			37		0	0	0.00222228	0	0
MARK1	4139	broad.mit.edu	37	1	220789325	220789325	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:220789325C>T	uc009xdw.3	+	6	1137	c.540C>T	c.(538-540)caC>caT	p.H180H	MARK1_uc001hmn.4_Silent_p.H180H|MARK1_uc010pun.2_Silent_p.H180H|MARK1_uc001hmm.4_Silent_p.H158H	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	180	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACATTGTTCACCGTGATCTTA	0.259000														91			38		0	0	0.0025221	0	0
HOXA1	3198	broad.mit.edu	37	7	27135367	27135367	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:27135367C>T	uc003sye.3	-	0	259	c.165G>A	c.(163-165)gtG>gtA	p.V55V	HOXA1_uc003syd.3_Silent_p.V55V|HOXA1_uc022aao.1_Silent_p.V55V|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	55						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCCCCTGCCCACTAGGAAGC	0.662000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37			11		0	0	0.000978159	0	0
ZZEF1	23140	broad.mit.edu	37	17	3947590	3947590	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:3947590A>T	uc002fxe.3	-	37	6158	c.6094T>A	c.(6094-6096)Tcg>Acg	p.S2032T	ZZEF1_uc002fxh.3_Missense_Mutation_p.S346T|ZZEF1_uc002fxi.3_Missense_Mutation_p.S267T|ZZEF1_uc002fxj.1_Missense_Mutation_p.S645T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2032							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGATCCTTCGATAATGATACA	0.393000														20			25		0	0	0.000720815	0	0
MGAM	8972	broad.mit.edu	37	7	141762434	141762434	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:141762434G>A	uc003vwy.3	+	34	4243	c.4189G>A	c.(4189-4191)Gaa>Aaa	p.E1397K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1397	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGAAGAGGGAAATAGAAGA	0.408000														18			15		0	0	0.00047179	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333652	47333652	+	RNA	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47333652C>T	uc001cqo.1	-	7		c.1075G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TAGGAGTTCCCTGATTTCATC	0.428000														13			4		0	0	0.000602214	0	0
PTPRB	5787	broad.mit.edu	37	12	70990070	70990070	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:70990070C>T	uc001swb.4	-	2	393	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PTPRB_uc010sto.2_Silent_p.E121E|PTPRB_uc010stp.2_Silent_p.E121E|PTPRB_uc001swc.4_Silent_p.E339E|PTPRB_uc001swa.4_Silent_p.E339E|PTPRB_uc001swd.4_Silent_p.E338E|PTPRB_uc009zrr.2_Silent_p.E218E|PTPRB_uc001swe.3_Silent_p.E339E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	121	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGTCGTCTTCTCTTTACTGA	0.373000														14			30		0	0	0.00106085	0	0
KIF13A	63971	broad.mit.edu	37	6	17817358	17817358	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:17817358G>A	uc003ncg.4	-	16	2053	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L	KIF13A_uc003ncf.3_Silent_p.L631L|KIF13A_uc003nch.4_Silent_p.L631L|KIF13A_uc003nci.4_Silent_p.L631L|KIF13A_uc003ncj.3_Silent_p.L307L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	631					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGCTGGCGGAGTTGCTCCA	0.587000														26			17		0	0	0.000566183	0	0
ART5	116969	broad.mit.edu	37	11	3661430	3661430	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:3661430C>T	uc001lyb.1	-	1	622	c.229G>A	c.(229-231)Gac>Aac	p.D77N	ART5_uc001lyc.1_Missense_Mutation_p.D77N|ART5_uc001lyd.3_Missense_Mutation_p.D77N|ART5_uc009yea.3_Missense_Mutation_p.D77N	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	77						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGACGCTTGTCCTCCCAGGTC	0.577000														19			18		0	0	0.00121646	0	0
BEST3	144453	broad.mit.edu	37	12	70087528	70087528	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:70087528G>A	uc001svg.3	-	3	634	c.407C>T	c.(406-408)tCc>tTc	p.S136F	BEST3_uc001svd.2_Missense_Mutation_p.S136F|BEST3_uc010stm.2_Missense_Mutation_p.S30F|BEST3_uc001svi.1_Non-coding_Transcript	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	136						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GATGAGCAGGGAGGTGAGATT	0.522000														35			55		0	0	0.000781405	0	0
TTC17	55761	broad.mit.edu	37	11	43469611	43469611	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:43469611C>T	uc001mxi.3	+	18	2795	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C	TTC17_uc010rfj.2_Missense_Mutation_p.R909C|TTC17_uc001mxl.3_5'Flank	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	909							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCTCAAACTCCGCTGGGTAGA	0.483000														25			20		0	0	0.000958276	0	0
CNTN2	6900	broad.mit.edu	37	1	205027462	205027462	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:205027462G>A	uc001hbr.3	+	3	638	c.369G>A	c.(367-369)agG>agA	p.R123R	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.3_5'UTR|CNTN2_uc001hbs.3_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	123	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTGTCAGCAGGGAGGCCATCC	0.627000														23			15		0	0	0.000422831	0	0
MGAM	8972	broad.mit.edu	37	7	141719039	141719039	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:141719039G>A	uc003vwy.3	+	3	422	c.368G>A	c.(367-369)gGa>gAa	p.G123E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	123	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G123E(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATCCCCAGGGAGCTGTAAGT	0.453000														81			44		0	0	0.000680045	0	0
COLQ	8292	broad.mit.edu	37	3	15498005	15498005	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:15498005G>A	uc003bzx.3	-	13	1162	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	COLQ_uc003bzv.3_Silent_p.L336L|COLQ_uc010heo.3_Silent_p.L312L|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Silent_p.L205L	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	346					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TTGAAGTACAGAGATCTCTGG	0.537000														15			25		0	0	0.001512	0	0
DEPDC1	55635	broad.mit.edu	37	1	68955286	68955286	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:68955286G>A	uc001dem.4	-	2	437	c.320C>T	c.(319-321)cCt>cTt	p.P107L	DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.P107L	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	107	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CGAAGTTGCAGGAAATCTGGT	0.289000														46			20		0	0	0.00152264	0	0
OR13C4	138804	broad.mit.edu	37	9	107289416	107289416	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:107289416G>A	uc011lvn.2	-	0	75	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CAAAGAAAATGATCTCAAGTT	0.418000														9			26		0	0	0.000586117	0	0
PLRG1	5356	broad.mit.edu	37	4	155461993	155461993	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:155461993G>A	uc003iny.3	-	8	906	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	PLRG1_uc003inz.3_Silent_p.L252L|PLRG1_uc011cil.2_Silent_p.L100L	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	261						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CAAGAGAACAGATATGGGCTC	0.403000														59			30		0	0	0.00209593	0	0
SALL1	6299	broad.mit.edu	37	16	51174411	51174411	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:51174411C>T	uc021tif.1	-	1	1753	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	SALL1_uc021tid.1_Silent_p.E477E|SALL1_uc021tie.1_Silent_p.E574E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	574					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGGGCTGGCTCTTCCGTCT	0.612000														28			16		0	0	0.000566183	0	0
XIST	7503	broad.mit.edu	37	X	73064337	73064337	+	RNA	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:73064337G>A	uc004ebm.1	-	0		c.8252C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATTCAAATAGGATAAGCCATG	0.428000														6			27		0	0	0.00127121	0	0
ZNF425	155054	broad.mit.edu	37	7	148802061	148802061	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:148802061G>A	uc003wfj.3	-	3	1035	c.902C>T	c.(901-903)cCg>cTg	p.P301L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	301					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCAGCAGAACGGCCGCTCCCC	0.672000														19			10		0	0	0.000673444	0	0
POTEF	728378	broad.mit.edu	37	2	130832816	130832816	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:130832816C>T	uc010fmh.2	-	16	2629	c.2229G>A	c.(2227-2229)atG>atA	p.M743I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	743	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCCCCATCATGCCCTGCT	0.617000														33			20		0	0	0.00106085	0	0
PVRIG	79037	broad.mit.edu	37	7	99818436	99818436	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:99818436G>A	uc003uue.2	+	5	1022	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.R217Q	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	Homo sapiens poliovirus receptor related immunoglobulin domain containing (PVRIG), mRNA.	217						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGAGAGCACGAGCATGGGTG	0.677000														14			14		0	0	0.00185496	0	0
DHX34	9704	broad.mit.edu	37	19	47856776	47856776	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:47856776C>T	uc010xyn.2	+	1	838	c.489C>T	c.(487-489)ccC>ccT	p.P163P	DHX34_uc010elc.1_Silent_p.P163P	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	163						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)		CAGCCCTCCCCATCGCCCAGT	0.647000														36			21		0	0	0.00278032	0	0
UBR4	23352	broad.mit.edu	37	1	19443892	19443892	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:19443892G>A	uc001bbi.3	-	72	10650	c.10646C>T	c.(10645-10647)tCc>tTc	p.S3549F	UBR4_uc001bbj.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3549					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACTTTAATGGAAGACAGCTT	0.423000														50			32		0	0	0.000692331	0	0
DRD5	1816	broad.mit.edu	37	4	9784439	9784440	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:9784439_9784440GG>AA	uc003gmb.4	+	0	1182_1183	c.786_787GG>AA	c.(784-789)ctggag>ctAAag	p.E263K		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	263					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				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)	TTTCCTCCCTGGAGAGGGCCGC	0.629000														16			8		0	0	6.4e-05	0	0
LGALS4	3960	broad.mit.edu	37	19	39293023	39293023	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:39293023G>A	uc002ojg.3	-	7	806	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L		NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	198	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCTCCTTGCAGCCTCCCGAAA	0.522000														43			67		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82579037	82579037	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:82579037G>A	uc003uhx.2	-	5	11156	c.10867C>T	c.(10867-10869)Ctt>Ttt	p.L3623F	PCLO_uc003uhv.2_Missense_Mutation_p.L3623F|PCLO_uc010lec.3_Missense_Mutation_p.L588F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3554					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V3622V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAGTAAAGGACTTTGGGG	0.478000														55			31		0	0	0.0024448	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394271	39394271	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:39394271C>T	uc002hwh.4	+	1	1	c.-33_splice	c.e1-1			NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	Homo sapiens keratin associated protein 9-8 (KRTAP9-8), mRNA.							keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AAACTCACCTCTGAACAGAAC	0.532000														8			12		0	0	0.000566183	0	0
HIP1R	9026	broad.mit.edu	37	12	123334490	123334490	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:123334490C>T	uc001udj.1	+	4	485	c.426C>T	c.(424-426)tcC>tcT	p.S142S	HIP1R_uc001udg.1_Silent_p.S130S|HIP1R_uc001udi.1_Silent_p.S142S|HIP1R_uc001udh.3_Silent_p.S142S	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	142	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAAGATCTCCTTCCACCTCA	0.577000														9			23		0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179431857	179431857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179431857C>T	uc021vsy.1	-	274	71523	c.71298G>A	c.(71296-71298)tgG>tgA	p.W23766*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W17461*|TTN_uc021vta.1_Nonsense_Mutation_p.W17394*|TTN_uc021vtb.1_Nonsense_Mutation_p.W17269*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24693	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y23766C(1)|p.W23764*(1)|p.W17394*(1)|p.W23766*(1)|p.W17269*(1)|p.W17461*(1)		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)			CAACAACAGTCCAGGCAAGTC	0.398000														73			37		0	0	0.000814825	0	0
GPR84	53831	broad.mit.edu	37	12	54757305	54757305	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:54757305G>A	uc021qyp.1	-	0	331	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	GPR84_uc001sfu.3_Missense_Mutation_p.L111F	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						ATGAGGCAGAGGGTCAGGATG	0.572000														6			10		0	0	0.00136819	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338145	42338145	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:42338145C>T	uc002igf.4	-	4	356	c.207G>A	c.(205-207)aaG>aaA	p.K69K	SLC4A1_uc021tyc.1_Silent_p.K69K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	69					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTCCTGGTTCTTTTCGTCCA	0.617000														8			15		0	0	0.00074312	0	0
IDO2	169355	broad.mit.edu	37	8	39806781	39806781	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:39806781C>T	uc010lwy.1	+	1	378	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	IDO2_uc003xno.1_Non-coding_Transcript	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	33					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCCAGATTCTCTGGTAAGGAT	0.383000														5			4		0	0	0.00024832	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664720	50664720	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:50664720G>A	uc003bkb.1	-	7	2201	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	TUBGCP6_uc010har.1_Silent_p.F563F|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'Flank	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	563					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACCTACCTCGGAAGCTGAGGT	0.612000														14			11		0	0	0.000673444	0	0
F9	2158	broad.mit.edu	37	X	138644029	138644029	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:138644029C>T	uc004fas.1	+	7	1214	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	F9_uc004fat.1_Silent_p.F357F	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	395	Peptidase S1.		F -> I (in HEMB).|F -> L (in HEMB).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.F395L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACAACATGTTCTGTGCTGGCT	0.443000														14			60		0	0	0.000781405	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259840	40259841	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:40259840_40259841CC>TT	uc001zkm.1	+	8	1363_1364	c.1313_1314CC>TT	c.(1312-1314)acc>aTT	p.T438I	EIF2AK4_uc001zkl.3_Missense_Mutation_p.T438I|EIF2AK4_uc010bbj.1_Missense_Mutation_p.T167I	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	438	Protein kinase 1.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCAGAAGGCACCGTCAAGATTA	0.480000														28			28		0	0	6.4e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141739790	141739790	+	Silent	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:141739790T>C	uc002tvj.1	-	17	3798	c.2826A>G	c.(2824-2826)agA>agG	p.R942R	LRP1B_uc010fnl.1_Silent_p.R124R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	942	LDL-receptor class A 5.				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)		ACAGCCATGCTCTGGGAATGC	0.418000										TSP Lung(27;0.18)				62			7		0	0	0.000274275	0	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:34149264C>T	uc004ddg.3	-	0	1184	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	378								p.E378*(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637000														6			16		0	0	0.000566183	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081308	143081308	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:143081308G>A	uc003qjd.3	-	8	6860	c.6117C>T	c.(6115-6117)ttC>ttT	p.F2039F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTGAGGGTGAGAAGTCCCTGG	0.478000														23			34		0	0	0.000953801	0	0
SOGA2	23255	broad.mit.edu	37	18	8825578	8825578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:8825578C>T	uc002knr.2	+	14	4212	c.4070C>T	c.(4069-4071)cCc>cTc	p.P1357L	SOGA2_uc002knq.2_Missense_Mutation_p.P1316L|SOGA2_uc002kns.2_Missense_Mutation_p.P697L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1667																	GGTGCTACACCCGTGTCGTCT	0.617000														11			13		0	0	0.00185496	0	0
DCAF6	55827	broad.mit.edu	37	1	168014467	168014467	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:168014467T>C	uc001gew.3	+	14	2380	c.2027_splice	c.e14+2	p.R676_splice	DCAF6_uc001gex.3_Splice_Site_p.R753_splice|DCAF6_uc010plk.2_Splice_Site_p.R722_splice|DCAF6_uc001gev.3_Splice_Site_p.R696_splice|DCAF6_uc001gey.3_Splice_Site_p.R549_splice|DCAF6_uc001gez.3_Splice_Site	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	676	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGGTGATAGGTTGGTAAATTT	0.418000														31			8		0	0	0.000157383	0	0
TNXB	7148	broad.mit.edu	37	6	32026065	32026065	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:32026065C>T	uc003nzl.2	-	21	7797	c.7595G>A	c.(7594-7596)gGa>gAa	p.G2532E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2592	Fibronectin type-III 17.				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						AGGGGAGGATCCTGTCACTGT	0.672000														98			89		0	0	0.000781405	0	0
FCGBP	8857	broad.mit.edu	37	19	40397968	40397968	+	Splice_Site	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:40397968A>T	uc002omp.4	-	14	7008	c.7000_splice	c.e14+1	p.P2334_splice		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2334	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTACTCACGACAGAAGTCCG	0.652000														34			14		0	0	0.00121646	0	0
HTR2C	3358	broad.mit.edu	37	X	114141186	114141186	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:114141186G>A	uc004epu.1	+	5	1313	c.585G>A	c.(583-585)agG>agA	p.R195R	HTR2C_uc010nqc.1_Silent_p.R195R|HTR2C_uc004epv.1_Missense_Mutation_p.G164R	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	195					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTGGACTGAGGGACGAAGAAA	0.458000														18			54		0	0	0.000781405	0	0
KIAA0317	9870	broad.mit.edu	37	14	75143345	75143345	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:75143345G>A	uc001xqb.3	-	5	1097	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	KIAA0317_uc010tut.1_Missense_Mutation_p.P37S	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	198					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TTGTTGGTGGGATTATCATAC	0.448000														88			9		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9061109	9061109	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9061109C>T	uc002mkp.3	-	2	26541	c.26337G>A	c.(26335-26337)acG>acA	p.T8779T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8781	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						CTGATCCTGTCGTGGTGAGGG	0.507000														18			33		0	0	0.00111076	0	0
TTN	7273	broad.mit.edu	37	2	179411964	179411964	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179411964C>T	uc021vsy.1	-	288	86809	c.86584G>A	c.(86584-86586)Gaa>Aaa	p.E28862K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22557K|TTN_uc021vta.1_Missense_Mutation_p.E22490K|TTN_uc021vtb.1_Missense_Mutation_p.E22365K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29789	Fibronectin type-III 110.						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)			TAGGGTTCTTCCCAACGAATA	0.423000														85			63		0	0	0.000781405	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195625	18195625	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:18195625C>T	uc001mnv.1	+	0	1242	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTACTTCTTCGTGGGCTCCT	0.488000														52			33		0	0	0.000814825	0	0
C2orf54	79919	broad.mit.edu	37	2	241831074	241831074	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:241831074C>T	uc002wae.4	-	1	780	c.621G>A	c.(619-621)agG>agA	p.R207R	C2orf54_uc002wac.3_Silent_p.R39R|C2orf54_uc002wad.3_Silent_p.R58R	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	207										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|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)		CCCCAAGCTTCCTTCTCACCA	0.652000														30			23		0	0	0.00047179	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76574680	76574680	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:76574680G>A	uc002fex.1	+	19	3583	c.3444G>A	c.(3442-3444)agG>agA	p.R1148R	CNTNAP4_uc002feu.1_Silent_p.R1144R|CNTNAP4_uc002fev.1_Silent_p.R1009R|CNTNAP4_uc010chb.1_Silent_p.R1072R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1145	Laminin G-like 4.				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						TATTGGGCAGGATTTTAGGTA	0.388000														4			4		0	0	0.00024832	0	0
FBXO22	26263	broad.mit.edu	37	15	76225279	76225279	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:76225279C>T	uc002bbk.3	+	6	1153	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	FBXO22_uc002bbl.3_Missense_Mutation_p.P246S|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	350					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AAAGTTTTTTCCTAGTGTTCC	0.413000														52			24		0	0	0.00106085	0	0
FAM120B	84498	broad.mit.edu	37	6	170632278	170632278	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:170632278C>T	uc003qxp.3	+	2	1954	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	FAM120B_uc003qxo.1_Missense_Mutation_p.P616S|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	616					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCAGGCCTTACCCAGCCAGGC	0.502000														9			26		0	0	0.000878237	0	0
ZAP70	7535	broad.mit.edu	37	2	98354284	98354284	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:98354284T>C	uc002syd.1	+	11	1754	c.1547T>C	c.(1546-1548)tTc>tCc	p.F516S	ZAP70_uc002sye.1_Missense_Mutation_p.F406S|ZAP70_uc002syf.1_Missense_Mutation_p.F209S	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	516	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTCCGCAAGTTCTCCAGCCGC	0.642000														60			33		0	0	0.00111076	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737367	74737367	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:74737367T>G	uc001dge.2	+	6	789	c.722T>G	c.(721-723)aTt>aGt	p.I241S	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.I241S|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.I241S|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.I140S	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	140						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GCCCTCCATATTGCTACAATA	0.428000														80			43		0	0	0.0025221	0	0
OTOL1	131149	broad.mit.edu	37	3	161221535	161221535	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:161221535C>G	uc011bpb.2	+	3	1239	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	413	C1q.					collagen		p.Q412H(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGAAGCAGTTCAAGTCCAGAG	0.473000														14			5		0	0	0.000157383	0	0
PROKR1	10887	broad.mit.edu	37	2	68873196	68873196	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:68873196C>T	uc010yqj.2	+	0	403	c.243C>T	c.(241-243)ttC>ttT	p.F81F	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	81						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TTGGAAACTTCATCTTTATCG	0.532000														85			37		0	0	0.00148497	0	0
DPPA3	359787	broad.mit.edu	37	12	7868018	7868018	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:7868018C>T	uc001qtf.3	+	1	400	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	108						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGGCGGAGTTCGTACGGTATG	0.483000														39			12		0	0	0.00136819	0	0
OR2T3	343173	broad.mit.edu	37	1	248637188	248637188	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248637188C>T	uc001iel.1	+	0	537	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAGGAAAATCCTGAGTTTTT	0.522000														59			40		0	0	0.00285205	0	0
MYO3B	140469	broad.mit.edu	37	2	171259451	171259451	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:171259451C>T	uc002ufy.3	+	18	2366	c.2223C>T	c.(2221-2223)atC>atT	p.I741I	MYO3B_uc002ufv.3_Silent_p.I728I|MYO3B_uc010fqb.1_Silent_p.I741I|MYO3B_uc002ufz.3_Silent_p.I741I|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	741	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATAAACATCGCCAATGAGC	0.408000														47			15		0	0	0.00244969	0	0
LIN7C	55327	broad.mit.edu	37	11	27528327	27528327	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:27528327G>A	uc001mrl.3	-	1	1	c.-26_splice	c.e1-1		LIN7C_uc009yii.3_Splice_Site|BDNF-AS_uc009yip.3_5'Flank|BDNF-AS_uc001mrn.3_5'Flank|BDNF-AS_uc001mro.3_5'Flank|BDNF-AS_uc001mrm.3_5'Flank|BDNF-AS_uc009yiq.3_5'Flank|BDNF-AS_uc001mrp.3_5'Flank|BDNF-AS_uc009yij.3_5'Flank|BDNF-AS_uc009yik.3_5'Flank|BDNF-AS_uc009yil.3_5'Flank|BDNF-AS_uc009yin.3_5'Flank|BDNF-AS_uc009yio.3_5'Flank|BDNF-AS_uc009yim.3_5'Flank|BDNF-AS_uc009yir.3_5'Flank|BDNF-AS_uc009yis.3_5'Flank|BDNF-AS_uc009yiu.3_5'Flank|BDNF-AS_uc009yix.3_5'Flank|BDNF-AS_uc009yiy.3_5'Flank|BDNF-AS_uc001mrq.4_5'Flank|BDNF-AS_uc009yiw.3_5'Flank|BDNF-AS_uc009yiz.3_5'Flank|BDNF-AS_uc001mrr.4_5'Flank|BDNF-AS_uc009yit.3_5'Flank|BDNF-AS_uc009yiv.3_5'Flank|BDNF-AS_uc009yja.3_5'Flank|BDNF-AS_uc009yjb.3_5'Flank	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	Homo sapiens lin-7 homolog C (C. elegans) (LIN7C), mRNA.						exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGACCCACAGGAAATGACGAC	0.637000														32			12		0	0	0.00136819	0	0
FCGBP	8857	broad.mit.edu	37	19	40433743	40433743	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:40433743C>T	uc002omp.4	-	1	534	c.526G>A	c.(526-528)Ggg>Agg	p.G176R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	176	IgGFc-binding.					extracellular region	protein binding	p.G176W(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCACTGACCCCTTCAGCGTG	0.567000														40			19		0	0	0.00229938	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41049436	41049436	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:41049436T>A	uc003jmj.4	-	13	1937	c.1447A>T	c.(1447-1449)Aag>Tag	p.K483*	HEATR7B2_uc003jmi.4_Nonsense_Mutation_p.K38*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	483							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGCTGCTTCTTCTCCTCTGCC	0.458000														42			10		0	0	0.000673444	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128838851	128838851	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:128838851G>A	uc009zcp.3	-	21	6215	c.6215C>T	c.(6214-6216)cCc>cTc	p.P2072L	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P1031L|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1723L	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	2072	Interaction with FYN.				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						CAACTCTGCGGGCAGGAAGGC	0.582000														6			7		0	0	0.000274275	0	0
EML5	161436	broad.mit.edu	37	14	89094155	89094155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:89094155G>A	uc021ryf.1	-	32	4615	c.4366C>T	c.(4366-4368)Cct>Tct	p.P1456S	EML5_uc001xxf.3_Missense_Mutation_p.P243S|EML5_uc021ryg.1_Missense_Mutation_p.P1456S|EML5_uc001xxh.1_Missense_Mutation_p.P587S	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1448						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGAATAGAAGGAGCTGTAGCT	0.358000														3			4		0	0	0.000602214	0	0
DBH	1621	broad.mit.edu	37	9	136508583	136508583	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:136508583G>A	uc004cel.3	+	3	802	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	265					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)	CCACCACATGGAAGTCTTCCA	0.657000														9			21		0	0	0.000586117	0	0
BIRC6	57448	broad.mit.edu	37	2	32724764	32724764	+	Silent	SNP	C	T	T	rs111947829		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:32724764C>T	uc010ezu.3	+	45	8753	c.8619C>T	c.(8617-8619)tgC>tgT	p.C2873C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2873					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)					ATATCACTTGCTCAGACAAAG	0.433000														135			64		0	0	0.000781405	0	0
VCAN	1462	broad.mit.edu	37	5	82833328	82833328	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:82833328C>T	uc003kii.3	+	7	4862	c.4506C>T	c.(4504-4506)ccC>ccT	p.P1502P	VCAN_uc003kij.3_Silent_p.P515P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.P166P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1502	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)		ATGTTTTCCCCACAGTCCCAT	0.438000														14			18		0	0	0.000958276	0	0
PACRGL	133015	broad.mit.edu	37	4	20728951	20728951	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:20728951C>T	uc010iek.3	+	8	1125	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.S218F|PACRGL_uc011bxm.2_3'UTR|PACRGL_uc003gqa.3_Missense_Mutation_p.S120F|PACRGL_uc011bxn.2_Missense_Mutation_p.S120F	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	245							binding			endometrium(2)|lung(7)|prostate(1)	10						ACATACTGCTCCATATGCTGT	0.368000														62			30		0	0	0.00127121	0	0
OTOGL	283310	broad.mit.edu	37	12	80707373	80707373	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:80707373G>A	uc001szd.3	+	29	3547	c.3541G>A	c.(3541-3543)Gaa>Aaa	p.E1181K		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.									p.E1181*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTGTTGTCAGGAAGGAATATC	0.358000														39			36		0	0	0.00285205	0	0
GALNT5	11227	broad.mit.edu	37	2	158157217	158157217	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:158157217C>T	uc002tzg.3	+	6	2400	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	715	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I715I(2)|p.E714D(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAATTGAGATCATTCCCTGCT	0.438000														70			32		0	0	0.000814825	0	0
FLG2	388698	broad.mit.edu	37	1	152326202	152326202	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152326202C>T	uc001ezw.4	-	2	4133	c.4060G>A	c.(4060-4062)Gaa>Aaa	p.E1354K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1354							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)			GAGTGCACTTCACTGTCAGTG	0.483000														104			35		0	0	0.00283554	0	0
CSMD2	114784	broad.mit.edu	37	1	34090134	34090134	+	Silent	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:34090134T>C	uc001bxm.1	-	34	5787	c.5610A>G	c.(5608-5610)gaA>gaG	p.E1870E	CSMD2_uc001bxn.1_Silent_p.E1830E|CSMD2_uc001bxo.1_Silent_p.E743E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1830	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCAGCGCCTTCGGGGACCA	0.647000														28			23		0	0	0.000586117	0	0
DHRS12	79758	broad.mit.edu	37	13	52364186	52364186	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:52364186C>T	uc001vfq.3	-	4	457	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	DHRS12_uc001vfr.1_Missense_Mutation_p.E88K|DHRS12_uc001vfs.1_Missense_Mutation_p.E88K			A0PJE2	DHR12_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 12 (DHRS12), transcript variant 2, mRNA.	137							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)		AGTCCATCTTCTGTGAGCTCT	0.308000														63			31		0	0	0.000953801	0	0
FLG	2312	broad.mit.edu	37	1	152281693	152281693	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152281693G>A	uc001ezu.1	-	2	5705	c.5669C>T	c.(5668-5670)tCt>tTt	p.S1890F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1890	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GTCGGCCCGAGAGGAAGCTTC	0.577000									Ichthyosis					206			95		0	0	0.000781405	0	0
AKAP11	11215	broad.mit.edu	37	13	42875847	42875847	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:42875847C>T	uc001uys.2	+	7	3140	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	989					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCCAAATTTCCTGACTCTCA	0.403000														33			18		0	0	0.000566183	0	0
MGLL	11343	broad.mit.edu	37	3	127411046	127411046	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:127411046G>A	uc003ejx.3	-	7	1052	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	MGLL_uc003ejw.3_Missense_Mutation_p.P313S|MGLL_uc011bko.2_Missense_Mutation_p.P283S|MGLL_uc003ejv.3_Missense_Mutation_p.P277S	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	303					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TGCATTCAGGGTGGGGACGCA	0.532000														35			17		0	0	0.00074312	0	0
BCL10	8915	broad.mit.edu	37	1	85742019	85742019	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:85742019G>T	uc021opd.1	-	0	569	c.17C>A	c.(16-18)cCg>cAg	p.P6Q	LOC646626_uc001dla.2_5'Flank|LOC646626_uc021ope.1_5'Flank	NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	6					T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GGTGAGGGACGGTGCGGTGGG	0.726000			T	IGH@	MALT									37			4		0.00116845	0.00464238	0.00116845	1	0
AGXT2	64902	broad.mit.edu	37	5	35010173	35010173	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:35010173C>T	uc003jjf.3	-	11	1513	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	AGXT2_uc003jje.1_Missense_Mutation_p.E77K|AGXT2_uc011com.2_Missense_Mutation_p.E349K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	424					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATTTCAAATTCATCCCGCAGC	0.438000														68			35		0	0	0.000814825	0	0
EVPL	2125	broad.mit.edu	37	17	74004741	74004741	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:74004741C>T	uc010wss.1	-	21	4839	c.4611G>A	c.(4609-4611)caG>caA	p.Q1537Q	EVPL_uc002jqi.2_Silent_p.Q1515Q|EVPL_uc010wst.1_Silent_p.Q985Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1515	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.R1536W(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGTCTTCTCCTGCGATTTGG	0.597000														54			59		0	0	0.000781405	0	0
ZNF488	118738	broad.mit.edu	37	10	48371431	48371431	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:48371431A>T	uc001jex.3	+	1	1061	c.899A>T	c.(898-900)aAg>aTg	p.K300M	ZNF488_uc021ppx.1_Missense_Mutation_p.K300M	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CACCACAAAAAGGAGCATGCG	0.602000														14			25		0	0	0.00106085	0	0
ANO2	57101	broad.mit.edu	37	12	6030386	6030386	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:6030386G>A	uc001qnm.2	-	2	414	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ANO2_uc021qtt.1_Silent_p.F118F	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	118						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTGGCCAGGGAAGCCTTGGG	0.617000														23			9		0	0	0.000442599	0	0
EYA2	2139	broad.mit.edu	37	20	45808552	45808552	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:45808552C>T	uc002xsm.3	+	12	1679	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Silent_p.I405I	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	435					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TAAACCTCATCAACTCCCGGC	0.557000														18			7		0	0	0.000274275	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895246	45895246	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:45895246G>A	uc002pbn.3	-	7	1784	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	PPP1R13L_uc002pbm.3_Silent_p.I148I|PPP1R13L_uc002pbo.3_Silent_p.I569I	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	569	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATCCCTCAGTGATGGGGGACA	0.697000														18			14		0	0	0.000422831	0	0
HFM1	164045	broad.mit.edu	37	1	91843722	91843722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:91843722C>T	uc001doa.4	-	10	1354	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	HFM1_uc010osu.2_Missense_Mutation_p.E98K|HFM1_uc010osv.1_Missense_Mutation_p.E103K|HFM1_uc001doc.1_Missense_Mutation_p.E419K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	419	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)		CCACGATTTTCATCTTTTACA	0.289000														34			18		0	0	0.00188189	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062336	144062336	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:144062336C>T	uc003wel.3	+	1	2692	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	ARHGEF5_uc003wek.3_Silent_p.S858S|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	858					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCCAAAGTCCAGGGGGAGGA	0.587000														61			7		0	0	0.000274275	0	0
EPHB4	2050	broad.mit.edu	37	7	100421842	100421842	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100421842G>A	uc003uwn.1	-	1	597	c.106C>T	c.(106-108)Cct>Tct	p.P36S	EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Missense_Mutation_p.P36S|EPHB4_uc011kkf.1_Missense_Mutation_p.P36S|EPHB4_uc011kkg.1_Missense_Mutation_p.P36S|EPHB4_uc011kkh.1_Missense_Mutation_p.P36S	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	36					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.P36H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCACCTGAGGGAATGTCACC	0.597000														62			40		0	0	0.000781405	0	0
SEL1L2	80343	broad.mit.edu	37	20	13869134	13869134	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:13869134C>T	uc010gcf.3	-	5	656	c.574G>A	c.(574-576)Gga>Aga	p.G192R	SEL1L2_uc002woq.4_Missense_Mutation_p.G53R|SEL1L2_uc010zrl.2_Missense_Mutation_p.G192R|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	192						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTCCTATTCCATAAGAAGAC	0.274000														34			17		0	0	0.00188189	0	0
BRD8	10902	broad.mit.edu	37	5	137486557	137486557	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:137486557C>T	uc003lcf.1	-	21	3052	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	999					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAGCTGAAAGCTCTTCAGTCT	0.488000														21			40		0	0	0.00170553	0	0
TTN	7273	broad.mit.edu	37	2	179596099	179596099	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179596099C>T	uc021vsy.1	-	55	13887	c.13662G>A	c.(13660-13662)ggG>ggA	p.G4554G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G1215G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5481	Ig-like 25.						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)			AGACATATTTCCCATCATGCT	0.408000														164			76		0	0	0.000781405	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868587	112868587	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:112868587C>T	uc003kqn.3	+	4	889	c.687C>T	c.(685-687)ttC>ttT	p.F229F	YTHDC2_uc010jce.2_Silent_p.F229F|YTHDC2_uc010jcf.2_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	229	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.F229S(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTCCTCAGTTCCTTTTAGATG	0.363000														15			45		0	0	0.000781405	0	0
COL11A2	1302	broad.mit.edu	37	6	33156784	33156784	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:33156784G>A	uc003ocx.1	-	2	642	c.414C>T	c.(412-414)gtC>gtT	p.V138V	COL11A2_uc003ocy.1_Silent_p.V138V|COL11A2_uc003ocz.1_Silent_p.V138V|COL11A2_uc003oda.3_Silent_p.V138V	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	138	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGCCTCGGAAGACTGGCTGAG	0.612000														102			33		0	0	0.00128727	0	0
HPS3	84343	broad.mit.edu	37	3	148857936	148857936	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:148857936C>T	uc003ewu.1	+	1	503	c.363C>T	c.(361-363)ttC>ttT	p.F121F	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Silent_p.F14F	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	121						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCAAAGCCTTCAGAGACCAGA	0.463000									Hermansky-Pudlak syndrome					91			65		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179428836	179428836	+	Silent	SNP	C	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179428836C>A	uc021vsy.1	-	274	74544	c.74319G>T	c.(74317-74319)cgG>cgT	p.R24773R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R18468R|TTN_uc021vta.1_Silent_p.R18401R|TTN_uc021vtb.1_Silent_p.R18276R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25700	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E24773Q(1)		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)			CTCCATCAGTCCGTATACAGT	0.393000														144			86		7.61764e-41	3.08328e-40	0.000781405	1	0
CYP2F1	1572	broad.mit.edu	37	19	41628759	41628759	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:41628759G>A	uc002opu.1	+	6	911	c.855G>A	c.(853-855)atG>atA	p.M285I	CYP2F1_uc021uuv.1_Missense_Mutation_p.M71I|CYP2F1_uc010xvv.1_Missense_Mutation_p.M285I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	285					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACTTCCACATGGATACCCTGC	0.567000														23			10		0	0	0.00136819	0	0
OR1E1	8387	broad.mit.edu	37	17	3301220	3301220	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:3301220A>C	uc002fvj.1	-	0	485	c.485T>G	c.(484-486)cTc>cGc	p.L162R		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						CCTGGCCATGAGTAAAGTGTG	0.532000														15			5		0	0	0.000602214	0	0
KRT24	192666	broad.mit.edu	37	17	38854792	38854792	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:38854792C>T	uc002hvd.3	-	6	1529	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	491	Tail.					cytoplasm|intermediate filament	structural molecule activity	p.R491Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AAGTCTACCTCGTCCTTGACC	0.363000														55			69		0	0	0.000781405	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145830929	145830929	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:145830929G>A	uc003zds.1	-	2	626	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ARHGAP39_uc011llk.1_Missense_Mutation_p.S24L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.S24L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	24					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						CCGAGTGTTCGACCCTGGAAT	0.612000														29			16		0	0	0.00121646	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616580	77616580	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:77616580C>T	uc003yau.2	+	1	644	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ZFHX4_uc003yat.1_Missense_Mutation_p.A86V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A86V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A86V(2)|p.C85F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGAATGTGCCACTTCTTTT	0.507000										HNSCC(33;0.089)				95			48		0	0	0.000781405	0	0
IL21	59067	broad.mit.edu	37	4	123533869	123533869	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:123533869G>A	uc003ies.2	-	4	530	c.485C>T	c.(484-486)tCc>tTc	p.S162F	IL21_uc010int.3_3'UTR	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	155					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGATCCTCAGGAATCTTCACT	0.373000														26			10		0	0	0.000673444	0	0
WWP1	11059	broad.mit.edu	37	8	87439898	87439898	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:87439898G>A	uc003ydt.3	+	10	1464	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	WWP1_uc010mai.3_Missense_Mutation_p.R171K	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	395	WW 2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GATGATCGTAGAAGAGTTTAT	0.373000														51			23		0	0	0.000586117	0	0
PCIF1	63935	broad.mit.edu	37	20	44569573	44569573	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:44569573C>T	uc002xqs.3	+	5	827	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	171						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCCTACGACCCACTGAGTGAG	0.602000														21			15		0	0	0.00244969	0	0
MLL3	58508	broad.mit.edu	37	7	151917674	151917674	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:151917674C>T	uc003wla.3	-	22	3865	c.3646G>A	c.(3646-3648)Gtc>Atc	p.V1216I	MLL3_uc003wkz.3_Missense_Mutation_p.V277I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1216					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)		GTCTGAAGGACGGCCACGCTA	0.398000			N		medulloblastoma									41			12		0	0	0.00244969	0	0
FAM49A	81553	broad.mit.edu	37	2	16742506	16742506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:16742506G>A	uc010exm.2	-	6	701	c.553C>T	c.(553-555)Cga>Tga	p.R185*	FAM49A_uc002rck.2_Nonsense_Mutation_p.R185*	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	185						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGGGACATTCGATTGGCCATC	0.403000														80			46		0	0	0.000781405	0	0
ABCC1	4363	broad.mit.edu	37	16	16215849	16215849	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:16215849C>T	uc010bvi.3	+	23	3583	c.3408C>T	c.(3406-3408)tcC>tcT	p.S1136S	ABCC1_uc010bvj.3_Silent_p.S1077S|ABCC1_uc010bvk.3_Silent_p.S1080S|ABCC1_uc010bvl.3_Silent_p.S1136S|ABCC1_uc010bvm.3_Silent_p.S1021S|ABCC1_uc002del.4_Silent_p.S1030S|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.S102S	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1136	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACGTGGCTTCCTCCCGGCAGC	0.612000														21			12		0	0	0.00244969	0	0
abParts	0	broad.mit.edu	37	14	106692110	106692110	+	RNA	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:106692110G>A	uc021ser.1	-	1154		c.24976C>T								Parts of antibodies, mostly variable regions.																		AAACCCAGCGGAGCCCCAGTT	0.498000														41			46		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9076887	9076887	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9076887G>A	uc002mkp.3	-	2	10763	c.10559C>T	c.(10558-10560)tCa>tTa	p.S3520L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3521	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						CGCAGGAGATGAAGTCTGAGA	0.507000														40			44		0	0	0.00285205	0	0
DSG3	1830	broad.mit.edu	37	18	29041205	29041205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:29041205G>A	uc002kws.3	+	7	938	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	277	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCACGTATTGAAGAAAATAT	0.328000														16			7		0	0	0.00198382	0	0
SPANXN2	494119	broad.mit.edu	37	X	142803707	142803707	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:142803707G>A	uc004fbz.3	-	0	810	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTATTGGATTCACAGGG	0.443000														20			48		0	0	0.000781405	0	0
CNTN5	53942	broad.mit.edu	37	11	100141954	100141954	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:100141954G>A	uc001pga.3	+	17	2799	c.2295G>A	c.(2293-2295)atG>atA	p.M765I	CNTN5_uc001pfz.3_Missense_Mutation_p.M765I|CNTN5_uc021qpb.1_Missense_Mutation_p.M765I|CNTN5_uc021qpc.1_Missense_Mutation_p.M691I|CNTN5_uc010ruk.2_Missense_Mutation_p.M36I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	765	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R764*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CATCTCGAATGATCCGCACAA	0.453000														10			10		0	0	0.000673444	0	0
CSF2RB	1439	broad.mit.edu	37	22	37329990	37329990	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:37329990G>A	uc003aqa.4	+	9	1486	c.1269G>A	c.(1267-1269)ggG>ggA	p.G423G	CSF2RB_uc003aqc.4_Silent_p.G429G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	423	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.G423E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCTACAACGGGATCTGGAGCG	0.657000														28			18		0	0	0.00121646	0	0
GFRAL	389400	broad.mit.edu	37	6	55223796	55223796	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:55223796G>A	uc003pcm.1	+	5	898	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	271						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTTGTTCAGGAAGTGATGAC	0.433000														69			50		0	0	0.000781405	0	0
AIM1L	55057	broad.mit.edu	37	1	26672466	26672466	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:26672466G>A	uc001bmd.4	-	1	833	c.683C>T	c.(682-684)tCg>tTg	p.S228L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 5.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCGGCTGGGCGAGCCTGGTGG	0.706000														16			6		0	0	0.00198382	0	0
TRIM46	80128	broad.mit.edu	37	1	155156512	155156512	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:155156512C>T	uc001fhs.1	+	9	2209	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.S583F|TRIM46_uc001fhu.1_Missense_Mutation_p.S686F|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	709	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGCTGTTTCCTTCCGTGGG	0.662000														16			15		0	0	0.00074312	0	0
CTAGE5	4253	broad.mit.edu	37	14	39818088	39818088	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:39818088T>C	uc001wvi.4	+	22	2506	c.2170T>C	c.(2170-2172)Ttc>Ctc	p.F724L	CTAGE5_uc001wuy.4_Missense_Mutation_p.F639L|CTAGE5_uc001wuz.4_Missense_Mutation_p.F707L|CTAGE5_uc001wva.4_Missense_Mutation_p.F690L|CTAGE5_uc001wvb.4_Missense_Mutation_p.F647L|CTAGE5_uc001wvc.4_Missense_Mutation_p.F621L|CTAGE5_uc001wvf.4_Missense_Mutation_p.F644L|CTAGE5_uc001wvg.4_Missense_Mutation_p.F719L|CTAGE5_uc001wvh.4_Missense_Mutation_p.F676L|CTAGE5_uc010amz.3_Missense_Mutation_p.F335L|CTAGE5_uc001wvj.4_Missense_Mutation_p.F690L	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	719	Pro-rich.						enzyme activator activity|protein binding	p.P724S(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGGACCTCCTTTCCCCCCACC	0.537000														94			9		0	0	0.000442599	0	0
IKZF1	10320	broad.mit.edu	37	7	50459562	50459562	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:50459562G>A	uc003tow.4	+	7	1005	c.850_splice	c.e7+1	p.G284_splice	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Splice_Site_p.G59_splice|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Splice_Site_p.G197_splice|IKZF1_uc003tox.4_Splice_Site_p.G242_splice|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Splice_Site_p.G155_splice|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Splice_Site_p.G101_splice|IKZF1_uc011kck.2_Splice_Site_p.G197_splice|IKZF1_uc003toy.4_Splice_Site_p.G242_splice|IKZF1_uc003toz.4_Splice_Site_p.G254_splice|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	284					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(27)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AAATTTCTTGGTAAGAGTTAA	0.398000			"""D,T"""	BCL6	"""ALL, DLBCL"""									7			8		0	0	0.000157383	0	0
OR4D5	219875	broad.mit.edu	37	11	123810407	123810407	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:123810407C>T	uc001pzk.1	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTTTTCTTCACTGTTTTCT	0.453000														18			44		0	0	0.0025221	0	0
C5orf42	65250	broad.mit.edu	37	5	37157847	37157847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:37157847G>A	uc011cpa.1	-	39	8113	c.7882C>T	c.(7882-7884)Cca>Tca	p.P2628S	C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1146S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1721S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2628										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCAGACGATGGAACTGCTAGA	0.363000														58			25		0	0	0.00127121	0	0
GPR111	222611	broad.mit.edu	37	6	47654739	47654739	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:47654739C>T	uc003oyy.3	+	7	2151	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	GPR115_uc003oyz.1_Intron	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTTCTTCATCCTAGTGTTTG	0.358000														81			30		0	0	0.00111076	0	0
LLGL2	3993	broad.mit.edu	37	17	73567847	73567847	+	Missense_Mutation	SNP	C	T	T	rs150971482		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:73567847C>T	uc002joh.3	+	17	2430	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	LLGL2_uc002joi.3_Missense_Mutation_p.P759L|LLGL2_uc010dgg.2_Missense_Mutation_p.P759L|LLGL2_uc002joj.3_Missense_Mutation_p.P748L|LLGL2_uc010wsd.2_Missense_Mutation_p.P386L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	759			P -> S (in dbSNP:rs1661715).		cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGGATGAGCCTGTGCGGGCA	0.701000														20			14		0	0	0.000422831	0	0
PRKCB	5579	broad.mit.edu	37	16	24192196	24192196	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:24192196G>A	uc002dmd.3	+	12	1677	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	PRKCB_uc002dme.3_Missense_Mutation_p.D494N	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	494	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAACATCTGGGATGGGGTGAC	0.507000														47			34		0	0	0.00058488	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372240	34372240	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:34372240C>T	uc003zue.4	-	2	866	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	234					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGATGGCGGCCGCGCGCGAAG	0.652000														4			3		0	0	0.00024832	0	0
PTK2	5747	broad.mit.edu	37	8	141745357	141745357	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:141745357G>A	uc003yvu.3	-	21	2333	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	PTK2_uc003yvo.3_Nonsense_Mutation_p.Q303*|PTK2_uc011ljq.2_Nonsense_Mutation_p.Q370*|PTK2_uc003yvp.3_Nonsense_Mutation_p.Q343*|PTK2_uc003yvq.3_Nonsense_Mutation_p.Q201*|PTK2_uc003yvr.3_Nonsense_Mutation_p.Q615*|PTK2_uc003yvs.3_Nonsense_Mutation_p.Q675*|PTK2_uc011ljr.2_Nonsense_Mutation_p.Q675*|PTK2_uc003yvt.3_Nonsense_Mutation_p.Q697*|PTK2_uc003yvv.3_Nonsense_Mutation_p.Q575*|Mir_28_uc022bbw.1_5'Flank	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	675	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACCTGAGCTGAGCTTTAAGT	0.522000														10			7		0	0	0.00198382	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68248162	68248162	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:68248162G>A	uc001xka.2	-	21	4596	c.4457C>T	c.(4456-4458)cCc>cTc	p.P1486L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P1486L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1486					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)		TGACTCCAGGGGCCACCTGTC	0.517000														32			32		0	0	0.000692331	0	0
KIAA1257	57501	broad.mit.edu	37	3	128695841	128695841	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:128695841C>T	uc003elj.4	-	5	1073	c.877G>A	c.(877-879)Gac>Aac	p.D293N	KIAA1257_uc003elg.1_Missense_Mutation_p.D293N|KIAA1257_uc003eli.4_Missense_Mutation_p.D181N	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	293										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GAAGAATCGTCCATTTTGAGG	0.438000														26			13		0	0	0.00244969	0	0
ADAM22	53616	broad.mit.edu	37	7	87759716	87759716	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:87759716G>A	uc003ujn.3	+	9	982	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	ADAM22_uc003ujj.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujk.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujl.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujm.3_Missense_Mutation_p.R256Q|ADAM22_uc003ujo.3_Missense_Mutation_p.R256Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R308Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	256	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.H255H(1)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAAACATCGGCTTTCCGTT	0.368000														59			30		0	0	0.00058488	0	0
HRNR	388697	broad.mit.edu	37	1	152188506	152188506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152188506G>A	uc001ezt.1	-	2	5675	c.5599C>T	c.(5599-5601)Cag>Tag	p.Q1867*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1867					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)			CCAGAAGACTGACCTGAGCCA	0.577000														723			26		0	0	0.00209593	0	0
PADI1	29943	broad.mit.edu	37	1	17557156	17557156	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:17557156C>T	uc001bah.1	+	9	1235	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	381					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGAAAGATTTCCCCTATAAGA	0.567000														11			7		0	0	0.000157383	0	0
DYSF	8291	broad.mit.edu	37	2	71743372	71743372	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:71743372G>A	uc010fen.3	+	9	1092	c.951_splice	c.e9+1	p.T317_splice	DYSF_uc010fei.3_Splice_Site_p.T316_splice|DYSF_uc010feh.3_Splice_Site_p.T285_splice|DYSF_uc002sig.4_Splice_Site_p.T285_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.T316_splice|DYSF_uc010fee.3_Splice_Site_p.T285_splice|DYSF_uc010fef.3_Splice_Site_p.T316_splice|DYSF_uc002sie.3_Splice_Site_p.T285_splice|DYSF_uc010feo.3_Splice_Site_p.T317_splice|DYSF_uc010fej.3_Splice_Site_p.T286_splice|DYSF_uc010fel.3_Splice_Site_p.T286_splice|DYSF_uc010fem.3_Splice_Site_p.T286_splice|DYSF_uc002sif.3_Splice_Site_p.T286_splice|DYSF_uc010fek.3_Splice_Site_p.T317_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	285						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTTTATCACGGTATGTCTCA	0.488000														11			8		0	0	0.000274275	0	0
LRFN2	57497	broad.mit.edu	37	6	40359697	40359697	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:40359697C>T	uc003oph.1	-	2	2820	c.2355G>A	c.(2353-2355)atG>atA	p.M785I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	785						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGTGCTCTCCATCACCCATT	0.597000														26			11		0	0	0.00136819	0	0
C12orf36	283422	broad.mit.edu	37	12	13529288	13529288	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:13529288G>A	uc001rbs.2	-	1	304	c.52C>T	c.(52-54)Cct>Tct	p.P18S						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		taaaaggcagggtgggaacag	0.433000														10			5		0	0	0.000602214	0	0
NKTR	4820	broad.mit.edu	37	3	42679340	42679340	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:42679340C>T	uc003clo.3	+	12	2291	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	NKTR_uc003clm.1_Missense_Mutation_p.S462L|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.S462L|NKTR_uc003clq.1_Missense_Mutation_p.S605L|NKTR_uc003clr.1_Missense_Mutation_p.S462L|NKTR_uc003cls.3_Missense_Mutation_p.S415L	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	715	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTAGCTAGTTCACATTCAAGG	0.378000														25			40		0	0	0.000781405	0	0
GCN1L1	10985	broad.mit.edu	37	12	120578761	120578761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:120578761G>A	uc001txo.3	-	44	5909	c.5896C>T	c.(5896-5898)Ccc>Tcc	p.P1966S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1966					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAAGGATGGGGATGATCTCG	0.532000														22			78		0	0	0.000781405	0	0
SLC20A2	6575	broad.mit.edu	37	8	42297144	42297144	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:42297144G>A	uc003xpe.3	-	6	1127	c.758C>T	c.(757-759)tCa>tTa	p.S253L	SLC20A2_uc010lxl.3_Missense_Mutation_p.S253L|SLC20A2_uc010lxm.3_Missense_Mutation_p.S253L|SLC20A2_uc011lcu.2_Missense_Mutation_p.S55L	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	253					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)			AGATACTCGTGATAAAGCACC	0.393000														44			26		0	0	0.001512	0	0
TIAM1	7074	broad.mit.edu	37	21	32493137	32493137	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:32493137G>A	uc002yow.1	-	28	4797	c.4325C>T	c.(4324-4326)tCt>tTt	p.S1442F	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.S1382F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1442					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCCCAAGAGACTTGCTTGG	0.522000														14			6		0	0	0.00116845	0	0
MURC	347273	broad.mit.edu	37	9	103340465	103340465	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:103340465C>T	uc004bba.3	+	0	130	c.40C>T	c.(40-42)Cac>Tac	p.H14Y		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	Homo sapiens muscle-related coiled-coil protein (MURC), mRNA.	14					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGATAAAATCCACCAGAATCG	0.433000														11			22		0	0	0.00047179	0	0
DNAH7	56171	broad.mit.edu	37	2	196661442	196661442	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:196661442A>G	uc002utj.4	-	55	10474	c.10373T>C	c.(10372-10374)cTt>cCt	p.L3458P	DNAH7_uc002uti.4_5'Flank	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3458	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K3457I(1)		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						TAAAGAGCTAAGTTTTGATCC	0.348000														42			5		0	0	0.000602214	0	0
ZNF711	7552	broad.mit.edu	37	X	84526624	84526624	+	Silent	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:84526624A>G	uc004eeq.3	+	9	3100	c.2214A>G	c.(2212-2214)aaA>aaG	p.K738K	ZNF711_uc004eep.3_Silent_p.K692K|ZNF711_uc004eeo.3_Silent_p.K692K|ZNF711_uc011mqy.1_Silent_p.K291K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	692					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATGAGCTAAAAAAACATATGA	0.358000														34			11		0	0	0.000673444	0	0
ANO6	196527	broad.mit.edu	37	12	45797003	45797004	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:45797003_45797004GG>TT	uc010slf.2	+	14	2159_2160	c.1824_1825GG>TT	c.(1822-1827)ttggga>ttTTga	p.608_609LG>F*	ANO6_uc001roo.3_Nonsense_Mutation_p.587_588LG>F*|ANO6_uc010sld.1_Nonsense_Mutation_p.587_588LG>F*|ANO6_uc010sle.1_Nonsense_Mutation_p.587_588LG>F*|ANO6_uc010slg.2_Nonsense_Mutation_p.569_570LG>F*	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	587					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTATTGGTTGGGAAAATACAG	0.342000														71			6		0	0	6.4e-05	0	0
C11orf16	56673	broad.mit.edu	37	11	8942945	8942945	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:8942945G>A	uc001mhb.4	-	5	1446	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	C11orf16_uc001mhc.4_Intron	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	441								p.P440Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CGGGGTCCGCGGTGGCTTCAT	0.517000														43			28		0	0	0.001512	0	0
RRP15	51018	broad.mit.edu	37	1	218475769	218475769	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:218475769C>T	uc001hlj.3	+	1	303	c.273C>T	c.(271-273)ggC>ggT	p.G91G		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	91						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTAATATGGGCTGGGCAGATG	0.408000														41			14		0	0	0.00244969	0	0
KIFC1	3833	broad.mit.edu	37	6	33371517	33371517	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:33371517C>T	uc003oef.4	+	5	817	c.367C>T	c.(367-369)Cct>Tct	p.P123S	KIFC1_uc011drf.2_Intron	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	123					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ATCAGGTGTTCCTCCCATGGC	0.498000														17			23		0	0	0.00047179	0	0
PRSS1	5644	broad.mit.edu	37	7	142459661	142459661	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:142459661A>C	uc003wak.2	+	2	254	c.237A>C	c.(235-237)gaA>gaC	p.E79D	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E19D	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	79	Peptidase S1.		E -> K (in PCTT; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect; dbSNP:rs28934902).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACAACATCGAAGTCCTGGAGG	0.547000														115			7		0	0	0.00198382	0	0
TM6SF1	53346	broad.mit.edu	37	15	83791524	83791524	+	Missense_Mutation	SNP	G	A	A	rs142876988		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:83791524G>A	uc002bjp.3	+	5	606	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	TM6SF1_uc010bmq.3_Missense_Mutation_p.R166Q|TM6SF1_uc002bjq.3_Intron|TM6SF1_uc010bmr.3_Intron|TM6SF1_uc002bjr.3_Missense_Mutation_p.R18Q	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	166						integral to membrane		p.R166Q(2)|p.T165R(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TATGGAACACGAATTTGCCCT	0.368000														43			27		0	0	0.00127121	0	0
OR4K1	79544	broad.mit.edu	37	14	20404050	20404050	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:20404050C>T	uc001vwj.2	+	0	284	c.225C>T	c.(223-225)aaC>aaT	p.N75N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N75K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTCAGTCTAACTTTGCCACCC	0.378000														140			15		0	0	0.000308642	0	0
FBLN2	2199	broad.mit.edu	37	3	13679197	13679197	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:13679197C>T	uc011avc.2	+	17	3856	c.3474C>T	c.(3472-3474)gcC>gcT	p.A1158A	FBLN2_uc011auz.2_Silent_p.A1137A|FBLN2_uc011avb.2_Silent_p.A1111A|FBLN2_uc011ava.2_Silent_p.A1158A	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1111	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCGCCAGCCTTCACGGGGG	0.622000														8			4		0	0	0.000602214	0	0
PCDH20	64881	broad.mit.edu	37	13	61987393	61987393	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:61987393C>T	uc001vid.4	-	1	1203	c.839G>A	c.(838-840)aGg>aAg	p.R280K	PCDH20_uc010thj.2_Missense_Mutation_p.R280K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	253	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGGGTTTCCCTGTCCAAAGC	0.522000														25			20		0	0	0.000958276	0	0
HAO2	51179	broad.mit.edu	37	1	119936430	119936430	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:119936430C>T	uc001ehr.1	+	7	1155	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	HAO2_uc001ehq.1_Silent_p.I341I	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	341	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCGCTGAGATCAATCGAAACT	0.473000														80			45		0	0	0.000781405	0	0
DSP	1832	broad.mit.edu	37	6	7569418	7569418	+	Splice_Site	SNP	G	A	A	rs34543842		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:7569418G>A	uc003mxp.1	+	12	1699	c.1420_splice	c.e12-1	p.K474_splice	DSP_uc003mxq.1_Splice_Site_p.K474_splice|DSP_uc021yle.1_Splice_Site_p.K474_splice	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	474	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		TTGCCTTACAGAAAATCGTGC	0.448000														49			38		0	0	0.00285205	0	0
ANPEP	290	broad.mit.edu	37	15	90348422	90348422	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:90348422G>A	uc002bop.4	-	3	1076	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	262	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTCCAGTTGGGGTCTTCTGGA	0.607000														84			39		0	0	0.000680045	0	0
XIRP2	129446	broad.mit.edu	37	2	168100889	168100889	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:168100889G>A	uc002udx.3	+	8	3076	c.2987G>A	c.(2986-2988)gGa>gAa	p.G996E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G821E|XIRP2_uc010fpq.3_Missense_Mutation_p.G774E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	821					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATCCCCTTGGAAAATATCAT	0.403000														30			22		0	0	0.000586117	0	0
HCN1	348980	broad.mit.edu	37	5	45462025	45462025	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:45462025C>T	uc003jok.3	-	2	959	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	312						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D312N(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGACAACCATCCCAGTGGCAC	0.413000														18			19		0	0	0.00121646	0	0
CSMD1	64478	broad.mit.edu	37	8	3216769	3216769	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:3216769G>A	uc022aqr.1	-	20	3599	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	CSMD1_uc011kwj.2_Missense_Mutation_p.S463F|CSMD1_uc003wqe.3_Missense_Mutation_p.S227F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1071	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGAAGCAGGAAAACGTCAG	0.557000														20			29		0	0	0.00178596	0	0
RGS7	6000	broad.mit.edu	37	1	240975228	240975228	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:240975228C>T	uc001hyt.2	-	6	622	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	RGS7_uc010pyh.2_Missense_Mutation_p.E332K|RGS7_uc010pyj.1_Missense_Mutation_p.E274K|RGS7_uc001hyu.2_Missense_Mutation_p.E358K|RGS7_uc009xgn.1_Missense_Mutation_p.E305K|RGS7_uc001hyv.2_Missense_Mutation_p.E358K|RGS7_uc001hyw.2_Missense_Mutation_p.E358K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	358					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTAAATTTTCCGAGCTGAAT	0.398000														27			34		0	0	0.000814825	0	0
MUC16	94025	broad.mit.edu	37	19	9069754	9069754	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9069754G>A	uc002mkp.3	-	2	17896	c.17692C>T	c.(17692-17694)Cca>Tca	p.P5898S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5900	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						TCTGAGTGTGGAAATCTCTGA	0.517000														20			34		0	0	0.000692331	0	0
KIAA1199	57214	broad.mit.edu	37	15	81224217	81224217	+	Missense_Mutation	SNP	G	A	A	rs141395577		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:81224217G>A	uc002bfw.1	+	20	2890	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	KIAA1199_uc010unn.1_Missense_Mutation_p.G877E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	877								p.G877E(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAATTAGAGGAATTCAGTTA	0.473000														55			31		0	0	0.00283554	0	0
PCNT	5116	broad.mit.edu	37	21	47831878	47831878	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:47831878C>T	uc002zji.4	+	27	5998	c.5891C>T	c.(5890-5892)gCc>gTc	p.A1964V	PCNT_uc002zjj.3_Missense_Mutation_p.A1846V	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1964					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGCCCGGGGCCCACCCACAG	0.697000														11			5		0	0	0.000602214	0	0
SDK1	221935	broad.mit.edu	37	7	4152925	4152925	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:4152925C>T	uc003smx.3	+	23	3578	c.3439C>T	c.(3439-3441)Cga>Tga	p.R1147*	SDK1_uc010kso.3_Nonsense_Mutation_p.R423*	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1147	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1147*(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTAGATTTCGAATGAAGCA	0.537000														153			76		0	0	0.000781405	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131066709	131066709	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:131066709A>C	uc003kvs.1	-	2	384	c.242T>G	c.(241-243)gTt>gGt	p.V81G	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.V81G|RAPGEF6_uc010jdm.1_Intron|RAPGEF6_uc003kvu.3_Missense_Mutation_p.V81G	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAGACTTTAACTTGAGCATC	0.348000														13			38		0	0	0.0025221	0	0
TMEM39B	55116	broad.mit.edu	37	1	32560459	32560459	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:32560459C>T	uc010ogv.2	+	6	1148	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Silent_p.L207L|TMEM39B_uc001buf.4_Silent_p.L135L|TMEM39B_uc010ogw.2_Silent_p.L135L	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	Homo sapiens transmembrane protein 39B (TMEM39B), mRNA.	334						integral to membrane		p.Y334C(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCGTGATCCTCATGCAGCACC	0.602000														37			29		0	0	0.00209593	0	0
HOXB5	3215	broad.mit.edu	37	17	46670776	46670776	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:46670776G>A	uc002inr.3	-	0	328	c.269C>T	c.(268-270)tCg>tTg	p.S90L	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	90						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGAGCAGCTCGAAGCCGCTTG	0.726000														1			12		0	0	0.000978159	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635712	141635712	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:141635712A>T	uc003vwv.1	-	4	444	c.247T>A	c.(247-249)Ttt>Att	p.F83I	CLEC5A_uc011krm.1_Missense_Mutation_p.F60I|CLEC5A_uc003vww.1_Missense_Mutation_p.F83I|CLEC5A_uc010lnq.1_Missense_Mutation_p.F60I|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	83	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GATAAGAAAAAACATCTTGCT	0.418000														34			31		0	0	0.00209593	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739492	205739492	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:205739492G>A	uc001hdf.4	-	5	930	c.590C>T	c.(589-591)tCc>tTc	p.S197F	RAB7L1_uc009xbp.3_Missense_Mutation_p.S125F|RAB7L1_uc001hde.4_Missense_Mutation_p.S197F|RAB7L1_uc010prr.2_Missense_Mutation_p.S173F|RAB7L1_uc009xbq.3_Non-coding_Transcript	NM_003929	NP_001129136	O14966	RAB7L_HUMAN	Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA.	197					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.S197S(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGCTGGAGGACTTGGTTTG	0.433000														33			9		0	0	0.000673444	0	0
HGF	3082	broad.mit.edu	37	7	81381514	81381514	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:81381514C>T	uc003uhl.3	-	4	712	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	HGF_uc003uhm.3_Missense_Mutation_p.E178K|HGF_uc003uhn.1_Missense_Mutation_p.E183K|HGF_uc003uho.1_Missense_Mutation_p.E178K|HGF_uc003uhp.3_Missense_Mutation_p.E183K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	183	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCCCTTCTTCCCCTCGAGGA	0.438000														49			15		0	0	0.000566183	0	0
SPTA1	6708	broad.mit.edu	37	1	158585152	158585152	+	Silent	SNP	G	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:158585152G>T	uc001fst.1	-	47	6841	c.6642C>A	c.(6640-6642)acC>acA	p.T2214T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2214					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACAATCTTGGTTAGTTGAC	0.483000														123			53		3.84483e-29	1.55398e-28	0.000781405	1	0
PCSK5	5125	broad.mit.edu	37	9	78803520	78803520	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:78803520C>T	uc004akc.2	+	17	2847	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F	PCSK5_uc004ajz.3_Missense_Mutation_p.S770F|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.S44F	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	770	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCTCTGTCTCCTGTGAAGAT	0.517000														13			24		0	0	0.00106085	0	0
WDFY3	23001	broad.mit.edu	37	4	85676491	85676491	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:85676491G>A	uc003hpd.3	-	33	5895	c.5487C>T	c.(5485-5487)gtC>gtT	p.V1829V		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1829						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGATAGAAGAGACCACAGTTC	0.443000														30			29		0	0	0.00209593	0	0
MUC16	94025	broad.mit.edu	37	19	9091259	9091259	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:9091259G>A	uc002mkp.3	-	0	760	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	186	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P186S(3)|p.I185I(1)		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						ATTTTTACAGGAATATATCTT	0.473000														22			29		0	0	0.00127121	0	0
OR2L3	391192	broad.mit.edu	37	1	248224841	248224841	+	Silent	SNP	C	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248224841C>G	uc001idx.1	+	0	858	c.858C>G	c.(856-858)ccC>ccG	p.P286P	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P286P(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			TGCTCAACCCCATCATCTATA	0.488000														66			6		0	0	0.00116845	0	0
IARS2	55699	broad.mit.edu	37	1	220311351	220311351	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:220311351C>T	uc001hmc.3	+	16	2245	c.2141C>T	c.(2140-2142)tCc>tTc	p.S714F		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	714					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATTGGCCCATCCGTGCTCAAT	0.408000														69			28		0	0	0.000878237	0	0
CSMD1	64478	broad.mit.edu	37	8	3565998	3565998	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:3565998T>C	uc022aqr.1	-	6	1337	c.947A>G	c.(946-948)gAg>gGg	p.E316G		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	316						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACTTCAACTCAATCGCCTT	0.438000														55			6		0	0	0.000274275	0	0
PDE1A	5136	broad.mit.edu	37	2	183129112	183129112	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:183129112C>T	uc002uos.3	-	2	215	c.131G>A	c.(130-132)aGa>aAa	p.R44K	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R44K|PDE1A_uc010zfq.1_Missense_Mutation_p.R44K|PDE1A_uc002uor.3_Missense_Mutation_p.R28K|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	44	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AACATCACCTCTTTCCAGCTG	0.363000														43			29		0	0	0.001512	0	0
BCAM	4059	broad.mit.edu	37	19	45323972	45323972	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:45323972G>A	uc002ozu.3	+	13	1818	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	592					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCCGCCAGGGGAGCCAGGGCT	0.716000														14			9		0	0	0.00136819	0	0
ZFP64	55734	broad.mit.edu	37	20	50769429	50769429	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:50769429G>A	uc002xwl.3	-	5	1651	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.F432F|ZFP64_uc002xwn.3_Silent_p.F380F	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCCCGCATGAAGGAGGCAT	0.572000														33			15		0	0	0.00244969	0	0
DSG3	1830	broad.mit.edu	37	18	29046629	29046629	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:29046629G>A	uc002kws.3	+	10	1657	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	516					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.L516L(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTAGAACACTGAATAATAGAT	0.443000														67			35		0	0	0.00283554	0	0
RSU1	6251	broad.mit.edu	37	10	16794967	16794967	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:16794967C>T	uc001iok.3	-	4	735	c.433G>A	c.(433-435)Gat>Aat	p.D145N	RSU1_uc001iol.3_Missense_Mutation_p.D145N|RSU1_uc001iom.3_Missense_Mutation_p.D92N|RSU1_uc001ion.3_Missense_Mutation_p.D145N	NM_152724	NP_689937	Q15404	RSU1_HUMAN	Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA.	145					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATTTCAAAATCGTTGTCACTT	0.398000														12			20		0	0	0.00278032	0	0
LILRA1	11024	broad.mit.edu	37	19	55107226	55107226	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:55107226G>A	uc002qgh.1	+	5	966	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	LILRA1_uc010yfg.1_Missense_Mutation_p.E260K|LILRA1_uc010yfh.2_Missense_Mutation_p.E262K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	262	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TAAGGAGGGAGAACGTGACTT	0.612000														52			29		0	0	0.00283554	0	0
ITFG3	83986	broad.mit.edu	37	16	304619	304619	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:304619C>T	uc002cgf.3	+	2	402	c.207C>T	c.(205-207)gtC>gtT	p.V69V	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.V69V|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Silent_p.V69V	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	69						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCTCATTCGTCATCCCGTGTC	0.607000														126			79		0	0	0.000781405	0	0
KCTD14	65987	broad.mit.edu	37	11	77728170	77728170	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:77728170G>A	uc001oyw.4	-	1	262	c.237C>T	c.(235-237)atC>atT	p.I79I	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	79	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGGGGCGGTCGATGAAGAAGC	0.597000														32			8		0	0	0.000157383	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507374	130507374	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:130507374G>A	uc004bsc.3	-	6	1411	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	SH2D3C_uc010mxo.3_Silent_p.T263T|SH2D3C_uc004bry.3_Silent_p.T265T|SH2D3C_uc004brz.4_Silent_p.T69T|SH2D3C_uc011mak.2_Silent_p.T69T|SH2D3C_uc004bsb.3_Silent_p.T355T|SH2D3C_uc004bsa.3_Silent_p.T266T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	423					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGGACACGGGTTACTGCAG	0.627000														8			5		0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13737541	13737541	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:13737541C>T	uc003jfd.2	-	65	11317	c.11275G>A	c.(11275-11277)Gaa>Aaa	p.E3759K	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3759	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K3758K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCTAGTTCCTTCATCCTT	0.383000									Kartagener syndrome					54			44		0	0	0.00222228	0	0
BIRC6	57448	broad.mit.edu	37	2	32724761	32724761	+	Silent	SNP	T	C	C	rs137947891		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:32724761T>C	uc010ezu.3	+	45	8750	c.8616T>C	c.(8614-8616)acT>acC	p.T2872T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2872					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)					ACTATATCACTTGCTCAGACA	0.433000														132			63		0	0	0.000781405	0	0
HTR5A	3361	broad.mit.edu	37	7	154862641	154862641	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:154862641C>T	uc003wlu.1	+	0	96	c.32C>T	c.(31-33)tCc>tTc	p.S11F	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	11						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACCTCCTTTTCCCTCTCCACC	0.597000														49			33		0	0	0.00111076	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333640	47333640	+	RNA	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47333640C>T	uc001cqo.1	-	7		c.1087G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AGACCCATCCCCTAGGAGTTC	0.423000														9			4		0	0	0.000602214	0	0
HERC1	8925	broad.mit.edu	37	15	63970335	63970335	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:63970335G>A	uc002amp.3	-	36	6927	c.6779C>T	c.(6778-6780)tCg>tTg	p.S2260L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2260					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCTCTGAACCGAGCGGCTTTT	0.428000														29			27		0	0	0.00127121	0	0
GSG1	83445	broad.mit.edu	37	12	13240852	13240852	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:13240852G>A	uc001rbn.3	-	4	807	c.623C>T	c.(622-624)tCt>tTt	p.S208F	GSG1_uc001rbl.3_Intron|GSG1_uc001rbj.3_Missense_Mutation_p.S172F|GSG1_uc001rbk.3_Silent_p.L213L|GSG1_uc001rbm.3_Intron|GSG1_uc001rbo.3_Silent_p.L249L|GSG1_uc001rbp.3_Missense_Mutation_p.S185F|GSG1_uc001rbq.2_Silent_p.L249L	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	195						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGACAGGACAGAGGAAACAGC	0.557000														24			10		0	0	0.000442599	0	0
OR10G9	219870	broad.mit.edu	37	11	123894512	123894512	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:123894512G>A	uc010sad.2	+	0	793	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGCTCCAGGGACGTCGTGGA	0.522000														19			34		0	0	0.000692331	0	0
FAM113B	91523	broad.mit.edu	37	12	47629854	47629855	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:47629854_47629855TC>AT	uc001rpq.3	+	1	1533_1534	c.1008_1009TC>AT	c.(1006-1011)ggtccc>ggATcc	p.P337S	FAM113B_uc001rpn.3_Missense_Mutation_p.P337S|FAM113B_uc021qxi.1_Missense_Mutation_p.P337S	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	337	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TCCCACAGGGTCCCCCAGATGC	0.579000														312			29		0	0	6.4e-05	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48212944	48212944	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:48212944C>T	uc002iqh.4	-	9	2353	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	790	Interacts with TGN38 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TCCATCTCCTCCTTTCTGGCC	0.632000														3			10		0	0	0.000673444	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166281	180166281	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:180166281G>A	uc003mmf.1	-	0	778	c.778C>T	c.(778-780)Caa>Taa	p.Q260*		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L259V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGATGGATTGGAGATATGTG	0.423000														40			92		0	0	0.000781405	0	0
BEST3	144453	broad.mit.edu	37	12	70049039	70049039	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:70049039G>A	uc001svg.3	-	9	1882	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.P339L|BEST3_uc010stm.2_Missense_Mutation_p.P446L	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	552						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTCTGAGGGAGACAGGAT	0.547000														100			33		0	0	0.00283554	0	0
TTN	7273	broad.mit.edu	37	2	179517007	179517007	+	Silent	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179517007T>C	uc021vsy.1	-	156	32118	c.31893A>G	c.(31891-31893)gaA>gaG	p.E10631E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11558	Glu-rich.|Pro-rich.						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)			TGGGTGGCACTTCAGGCTTTT	0.378000														251			30		0	0	0.00283554	0	0
SRL	6345	broad.mit.edu	37	16	4242577	4242577	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:4242577G>A	uc002cvz.4	-	5	1012	c.999C>T	c.(997-999)atC>atT	p.I333I	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	792	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CGTGCTGGCGGATGAAGGCAA	0.537000														88			46		0	0	0.000781405	0	0
ZNF212	7988	broad.mit.edu	37	7	148947573	148947573	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:148947573C>T	uc003wfp.3	+	1	476	c.348C>T	c.(346-348)aaC>aaT	p.N116N		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ACGTGGAGAACCTGCTGCGCA	0.612000														80			58		0	0	0.000781405	0	0
LRBA	987	broad.mit.edu	37	4	151203748	151203748	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:151203748C>T	uc010ipj.3	-	55	8447	c.8203G>A	c.(8203-8205)Gag>Aag	p.E2735K	LRBA_uc010ipi.3_Missense_Mutation_p.E257K|LRBA_uc003ils.4_Missense_Mutation_p.E630K|LRBA_uc003ilt.4_Missense_Mutation_p.E1383K|LRBA_uc003ilu.4_Missense_Mutation_p.E2723K|LRBA_uc003ilr.4_Missense_Mutation_p.E155K	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2735						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)					TCAGGACCCTCCAAGGTCCTC	0.408000														72			41		0	0	0.00285205	0	0
NWD1	284434	broad.mit.edu	37	19	16860679	16860679	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:16860679C>T	uc002neu.4	+	5	1648	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	NWD1_uc002net.4_Missense_Mutation_p.A274V|NWD1_uc002nev.4_Missense_Mutation_p.A203V|NWD1_uc021uqg.1_Missense_Mutation_p.A274V	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	409	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTTCTGGACGCCCACACCAGG	0.582000														11			16		0	0	0.00074312	0	0
ESYT2	57488	broad.mit.edu	37	7	158528282	158528282	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:158528282G>A	uc003wob.1	-	19	2564	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Missense_Mutation_p.S272L|ESYT2_uc003woa.1_Missense_Mutation_p.S410L	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	861	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCTGGTAACGAAACACTGAA	0.438000														51			30		0	0	0.00170553	0	0
OR56A5	390084	broad.mit.edu	37	11	5989438	5989438	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:5989438C>T	uc010qzu.2	-	0	287	c.287G>A	c.(286-288)aGc>aAc	p.S96N		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	96						integral to membrane|plasma membrane	olfactory receptor activity										GGCAGGGAAGCTGATTGATCT	0.522000														14			14		0	0	0.000422831	0	0
MUC5B	727897	broad.mit.edu	37	11	1162342	1162342	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:1162342C>T	uc021qbr.1	+	14	1898	c.1851C>T	c.(1849-1851)tgC>tgT	p.C617C				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	608	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			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)		AGGACCCCTGCTCTCTGAGCG	0.652000														15			6		0	0	0.00116845	0	0
OR2V2	285659	broad.mit.edu	37	5	180582587	180582587	+	Silent	SNP	C	T	T	rs146384535	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:180582587C>T	uc011dhj.2	+	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCATCATCGTGGCCTCCT	0.522000														46			92		0	0	0.000781405	0	0
MGP	4256	broad.mit.edu	37	12	15035095	15035095	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:15035095C>T	uc021qvr.1	-	4	493	c.365G>A	c.(364-366)aGg>aAg	p.R122K	MGP_uc001rcn.2_Missense_Mutation_p.R97K	NM_001190839	NP_001177768	P08493	MGP_HUMAN	Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA.	97					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TCGGCGCTTCCTGAAGTAGCG	0.478000														88			71		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82582358	82582358	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:82582358C>T	uc003uhx.2	-	4	8200	c.7911G>A	c.(7909-7911)caG>caA	p.Q2637Q	PCLO_uc003uhv.2_Silent_p.Q2637Q|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2568					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q2637H(2)|p.Q2568H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGAAGGTCTGTTCTGAAG	0.458000														49			33		0	0	0.00058488	0	0
IL28RA	163702	broad.mit.edu	37	1	24484325	24484325	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:24484325G>A	uc001bis.3	-	6	885	c.858C>T	c.(856-858)tcC>tcT	p.S286S	IL28RA_uc001bir.3_Intron|IL28RA_uc001bit.3_Missense_Mutation_p.R243C|IL28RA_uc001biu.3_Silent_p.S202S	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	286					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGTCATTCACGGACTCTGGTC	0.542000														78			34		0	0	0.00283554	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606659	159606659	+	Silent	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:159606659A>G	uc003fcq.2	+	8	1654	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	IQCJ-SCHIP1_uc003fcr.2_Silent_p.K464K|IQCJ-SCHIP1_uc003fcs.2_Silent_p.K415K|IQCJ-SCHIP1_uc003fct.2_Silent_p.K402K|IQCJ-SCHIP1_uc021xgm.1_Silent_p.K183K|IQCJ-SCHIP1_uc010hvz.1_Silent_p.K375K|IQCJ-SCHIP1_uc003fcu.2_Silent_p.K172K	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	415						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GAAGTTTAAAACCCACCGACC	0.408000														48			28		0	0	0.001512	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686458	108686458	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:108686458G>A	uc009zuw.3	-	2	473	c.282C>T	c.(280-282)atC>atT	p.I94I	CMKLR1_uc001tmw.3_Silent_p.I94I|CMKLR1_uc001tmv.3_Silent_p.I92I|CMKLR1_uc009zuv.3_Silent_p.I94I|CMKLR1_uc021rdj.1_Silent_p.I92I	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	94					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGGTGATATGGATTGGGAGGA	0.493000														15			30		0	0	0.00058488	0	0
PGK2	5232	broad.mit.edu	37	6	49754580	49754580	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:49754580G>A	uc003ozu.3	-	0	474	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	107					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGTTGGCACAGGCTTTCTCCA	0.507000														41			22		0	0	0.00188189	0	0
RGPD3	653489	broad.mit.edu	37	2	107040826	107040826	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:107040826C>T	uc010ywi.1	-	19	3654	c.3597G>A	c.(3595-3597)aaG>aaA	p.K1199K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1199					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCAGTCCACTCTTCATTTCTT	0.433000														81			59		0	0	0.000781405	0	0
GLRB	2743	broad.mit.edu	37	4	158073936	158073936	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:158073936C>T	uc003ipj.2	+	8	1173	c.971C>T	c.(970-972)tCc>tTc	p.S324F	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.S324F	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	324					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCCAAAGTTTCCTATGTGAAG	0.483000														62			39		0	0	0.00128727	0	0
OR51G2	81282	broad.mit.edu	37	11	4936151	4936151	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:4936151G>A	uc001lzr.1	-	0	743	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGGGAAACACAGGT	0.552000														49			31		0	0	0.00283554	0	0
ARID4A	5926	broad.mit.edu	37	14	58796780	58796780	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:58796780G>A	uc001xdp.3	+	10	1053	c.799G>A	c.(799-801)Gat>Aat	p.D267N	ARID4A_uc001xdo.3_Missense_Mutation_p.D267N|ARID4A_uc001xdq.3_Missense_Mutation_p.D267N|ARID4A_uc010apg.1_5'Flank	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	267					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGGAAAATGGATATAAGTGA	0.388000														29			45		0	0	0.00222228	0	0
PRKD2	25865	broad.mit.edu	37	19	47178312	47178312	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:47178312G>A	uc002pfh.3	-	17	2744	c.2402C>T	c.(2401-2403)tCt>tTt	p.S801F	PRKD2_uc010eks.3_Missense_Mutation_p.S204F|PRKD2_uc010ekt.3_Missense_Mutation_p.S68F|PRKD2_uc002pfg.3_Missense_Mutation_p.S644F|PRKD2_uc002pfi.3_Missense_Mutation_p.S801F|PRKD2_uc002pfj.3_Missense_Mutation_p.S801F|PRKD2_uc010xye.2_Missense_Mutation_p.S811F|PRKD2_uc002pfk.3_Missense_Mutation_p.S644F|LOC100506068_uc021uwh.1_Intron	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	801	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTGGCTGAGAGATTTGTCCAC	0.562000														12			6		0	0	0.000157383	0	0
PSG2	5670	broad.mit.edu	37	19	43579720	43579720	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:43579720C>T	uc002ovr.3	-	2	667	c.495G>A	c.(493-495)gtG>gtA	p.V165V	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	165	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGGTTAAGATCACAGTTTCCA	0.522000														110			65		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179498381	179498381	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179498381C>T	uc021vsy.1	-	180	35226	c.35001G>A	c.(34999-35001)gtG>gtA	p.V11667V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.V5362V|TTN_uc021vta.1_Silent_p.V5295V|TTN_uc021vtb.1_Silent_p.V5170V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12594	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D11666G(1)|p.R11667K(1)		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)			CATGTAATTTCACAGTGAAGT	0.338000														21			14		0	0	0.00244969	0	0
OR2T12	127064	broad.mit.edu	37	1	248458752	248458752	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248458752C>T	uc010pzj.2	-	0	129	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TCAGGAGAATCATGAGGGCAT	0.522000														50			29		0	0	0.00178596	0	0
RDX	5962	broad.mit.edu	37	11	110134695	110134696	+	Silent	DNP	GG	AA	AA			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:110134695_110134696GG>AA	uc009yxy.3	-	4	766_767	c.456_457CC>TT	c.(454-459)ctccta>ctTTta	p.152_153LL>LL	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Silent_p.120_121LL>LL|RDX_uc001pku.3_Silent_p.152_153LL>LL|RDX_uc010rwe.2_Intron	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	152	FERM.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CGCTGGGGTAGGAGTCTATCAT	0.361000														13			16		0	0	6.4e-05	0	0
RABEP2	79874	broad.mit.edu	37	16	28935917	28935917	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:28935917G>A	uc002drq.3	-	1	129	c.81C>T	c.(79-81)tcC>tcT	p.S27S	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Intron|RABEP2_uc010byn.3_Silent_p.S27S|RABEP2_uc002drr.3_Silent_p.S27S	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	27					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCCCTTCCTGGGACCGGGAGT	0.617000														29			8		0	0	0.000274275	0	0
IPP	3652	broad.mit.edu	37	1	46195343	46195343	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:46195343G>A	uc001cou.3	-	3	1090	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	IPP_uc001cos.4_Silent_p.L275L	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	275						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					GATGTCTGCAGAAAACTACAA	0.373000														54			32		0	0	0.000953801	0	0
ZBED1	9189	broad.mit.edu	37	X	2406967	2406967	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:2406967G>A	uc022brx.1	-	0	1794	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.F598F|ZBED1_uc004cqg.2_Silent_p.F598F|ZBED1_uc022brw.1_Silent_p.F598F	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	598						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				GCAGCAGGGGGAAGAGGGCCA	0.647000														35			38		0	0	0.00111076	0	0
PADI3	51702	broad.mit.edu	37	1	17603120	17603120	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:17603120G>A	uc001bai.3	+	11	1454	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	472					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGCCATGTGGATGAGTTTCT	0.612000														35			14		0	0	0.000566183	0	0
MBD5	55777	broad.mit.edu	37	2	149226884	149226884	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:149226884C>T	uc002twm.4	+	8	2369	c.1372C>T	c.(1372-1374)Caa>Taa	p.Q458*	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	458						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGCATCGCCCCAAAGATCACG	0.512000														11			10		0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13717504	13717504	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:13717504G>A	uc003jfd.2	-	72	12667	c.12625C>T	c.(12625-12627)Ccc>Tcc	p.P4209S	DNAH5_uc003jfc.2_Missense_Mutation_p.P377S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4209	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTCGTAGGGGATATTCCAC	0.547000									Kartagener syndrome					18			18		0	0	0.00074312	0	0
ITGAD	3681	broad.mit.edu	37	16	31435519	31435519	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:31435519G>A	uc010cap.1	+	27	3308	c.3259G>A	c.(3259-3261)Gct>Act	p.A1087T	ITGAD_uc002ebv.1_Missense_Mutation_p.A1086T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1086					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATTTATGAGAGCTCAGGTAGA	0.562000														21			16		0	0	0.000422831	0	0
ZNF230	7773	broad.mit.edu	37	19	44514759	44514759	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:44514759C>T	uc002oyb.1	+	4	819	c.568C>T	c.(568-570)Cac>Tac	p.H190Y		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CCAGAGAGTTCACTTGAGAGA	0.463000														52			40		0	0	0.0025221	0	0
LSP1	4046	broad.mit.edu	37	11	1874417	1874417	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:1874417G>A	uc001lui.3	+	0	218	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	15				Missing (in Ref. 3; AAB29545).	cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGAGCGGGAAGAGTTGCTGGG	0.667000														10			8		0	0	0.000274275	0	0
PTPRT	11122	broad.mit.edu	37	20	40739014	40739014	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:40739014G>A	uc002xkg.3	-	22	3397	c.3213C>T	c.(3211-3213)ttC>ttT	p.F1071F	PTPRT_uc010ggj.3_Silent_p.F1090F|PTPRT_uc010ggi.3_Silent_p.F274F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1071	Tyrosine-protein phosphatase 1.				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)				GGGGGTTGAGGAACTTGACCT	0.627000														27			17		0	0	0.00074312	0	0
RET	5979	broad.mit.edu	37	10	43606833	43606833	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:43606833T>G	uc001jal.3	+	6	1632	c.1442T>G	c.(1441-1443)cTt>cGt	p.L481R	RET_uc001jak.1_Missense_Mutation_p.L481R|RET_uc010qez.1_Missense_Mutation_p.L227R	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	481					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGTGCCGAACTTCACTACATG	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					20			4		0	0	0.00024832	0	0
SNUPN	10073	broad.mit.edu	37	15	75902304	75902304	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:75902304G>A	uc002ban.3	-	3	425	c.335C>T	c.(334-336)cCt>cTt	p.P112L	SNUPN_uc002bap.3_Missense_Mutation_p.P154L|SNUPN_uc002baq.3_Missense_Mutation_p.P112L|SNUPN_uc002bar.3_Missense_Mutation_p.P112L|SNUPN_uc002bas.3_Missense_Mutation_p.P112L	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	112	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CAAATCTGAAGGAACGTCAAT	0.493000														25			20		0	0	0.00188189	0	0
ZNF676	163223	broad.mit.edu	37	19	22363024	22363024	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:22363024G>A	uc002nqs.1	-	2	1813	c.1495C>T	c.(1495-1497)Cat>Tat	p.H499Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTATCTTA	0.383000														13			15		0	0	0.00244969	0	0
C20orf26	26074	broad.mit.edu	37	20	20051576	20051576	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:20051576C>T	uc002wru.3	+	2	336	c.222C>T	c.(220-222)ccC>ccT	p.P74P	C20orf26_uc010gcw.2_Silent_p.P28P|C20orf26_uc010zse.2_Silent_p.P74P|C20orf26_uc010zsf.1_Silent_p.P74P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	74			P -> R (in dbSNP:rs17852602).							NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGGACTACCCCAACTGGAATG	0.502000														38			18		0	0	0.00074312	0	0
RSRC1	51319	broad.mit.edu	37	3	158261266	158261266	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:158261266C>T	uc003fbt.3	+	8	1013	c.902C>T	c.(901-903)gCc>gTc	p.A301V	RSRC1_uc003fbv.3_Missense_Mutation_p.A243V	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	301					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AATTCCCTGGCCCATCCAAAT	0.398000														68			19		0	0	0.000720815	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113461	123113461	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:123113461C>T	uc003ieh.3	+	8	1024	c.979C>T	c.(979-981)Cca>Tca	p.P327S	KIAA1109_uc003iei.1_Missense_Mutation_p.P81S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	327					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGACTTGCCTCCATGTTGGGG	0.373000														39			25		0	0	0.00047179	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533216	47533216	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:47533216C>T	uc001cqu.1	+	0	57	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	18						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGCTGCTGATCCTCCTCTGCA	0.562000														20			10		0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179553407	179553407	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179553407C>T	uc021vsy.1	-	122	28687	c.28462G>A	c.(28462-28464)Gaa>Aaa	p.E9488K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6149K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10415							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)			TATATACCTTCGTGCCGCGTG	0.398000														56			17		0	0	0.000566183	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597977	70597977	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:70597977C>T	uc003tvy.3	+	0	189	c.189C>T	c.(187-189)gtC>gtT	p.V63V		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	63						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGATGCGGTCCTGAAGCGCC	0.726000														10			6		0	0	0.00116845	0	0
GRK1	6011	broad.mit.edu	37	13	114322079	114322079	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:114322079G>A	uc010tkf.2	+	0	483	c.378G>A	c.(376-378)ctG>ctA	p.L126L		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	126	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCAGCTTCCTGGATGAGGGGA	0.617000														13			4		0	0	0.00024832	0	0
OR4N2	390429	broad.mit.edu	37	14	20296196	20296197	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:20296196_20296197CT>TA	uc010tkv.2	+	0	589_590	c.589_590CT>TA	c.(589-591)ctt>TAt	p.L197Y		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGTGGAGCTTCTGATGGTC	0.530000														51			23		0	0	6.4e-05	0	0
DHX34	9704	broad.mit.edu	37	19	47858352	47858352	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:47858352C>T	uc010xyn.2	+	2	1111	c.762C>T	c.(760-762)ttC>ttT	p.F254F	DHX34_uc010elc.1_Silent_p.F254F	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	254	Helicase ATP-binding.					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)		AGATTGTATTCCTGACAGTGG	0.582000														40			29		0	0	0.001512	0	0
CPA3	1359	broad.mit.edu	37	3	148599379	148599379	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:148599379C>T	uc003ewm.3	+	6	699	c.647C>T	c.(646-648)cCt>cTt	p.P216L		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	216					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TACATTCTTCCTGTGTTCAAT	0.343000														38			10		0	0	0.00136819	0	0
EFCAB6	64800	broad.mit.edu	37	22	44112819	44112819	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:44112819G>A	uc003bdy.2	-	8	1105	c.791C>T	c.(790-792)tCc>tTc	p.S264F	EFCAB6_uc003bdz.2_Missense_Mutation_p.S112F|EFCAB6_uc010gzi.2_Missense_Mutation_p.S112F|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.S158F|EFCAB6_uc003bea.2_Missense_Mutation_p.S261F|EFCAB6_uc003beb.4_Missense_Mutation_p.S158F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCTTTTTGGAATTTTTGGC	0.353000														48			18		0	0	0.000566183	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117614	31117614	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:31117614G>A	uc003tca.2	+	3	455	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.G56R|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.G56R|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.G56R|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.G56R	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	56					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGGCTGTCCTGGGATGTGGGA	0.572000														25			16		0	0	0.000422831	0	0
STRN3	29966	broad.mit.edu	37	14	31424860	31424860	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:31424860G>A	uc001wqu.2	-	2	642	c.426C>T	c.(424-426)aaC>aaT	p.N142N	STRN3_uc001wqv.2_Silent_p.N142N|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	142					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.L141L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGTCACCTTGGTTCAGTTCCG	0.303000														17			18		0	0	0.00229938	0	0
EPG5	57724	broad.mit.edu	37	18	43435618	43435618	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:43435618G>A	uc002lbm.3	-	42	7577	c.7477C>T	c.(7477-7479)Ctt>Ttt	p.L2493F		NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2493					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						TGAACTGAAAGGAAGGCAGCC	0.453000														11			13		0	0	0.000566183	0	0
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:20248579C>T	uc010tku.2	+	0	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTCTATCCTTCTATTTG	0.413000														167			13		0	0	0.000308642	0	0
DNAH7	56171	broad.mit.edu	37	2	196891526	196891526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:196891526C>T	uc002utj.4	-	6	726	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	209	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						TCTCTCATTTCATCAGATAAT	0.338000														32			17		0	0	0.000958276	0	0
OR2M5	127059	broad.mit.edu	37	1	248308935	248308935	+	Silent	SNP	G	T	T	rs138472974	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:248308935G>T	uc010pze.2	+	0	486	c.486G>T	c.(484-486)gcG>gcT	p.A162A		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			ATGCTGTAGCGACATTTTCCT	0.448000														205			9		0.000274275	0.00109282	0.000274275	1	0
PCDHB14	56122	broad.mit.edu	37	5	140603558	140603558	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:140603558G>A	uc003ljb.3	+	0	481	c.481G>A	c.(481-483)Gat>Aat	p.D161N		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	161	Cadherin 2.				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)			TCAAGATTTGGATGTCGGAAG	0.398000														10			31		0	0	0.000692331	0	0
SLC44A2	57153	broad.mit.edu	37	19	10738467	10738467	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:10738467C>T	uc002mpf.3	+	2	295	c.156C>T	c.(154-156)atC>atT	p.I52I	SLC44A2_uc002mpe.4_Silent_p.I50I	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	52					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTGTAGGCATCATAGGTGAGT	0.587000														16			28		0	0	0.001512	0	0
CASP5	838	broad.mit.edu	37	11	104877831	104877831	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:104877831G>A	uc010ruz.1	-	2	483	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	CASP5_uc010rva.1_Nonsense_Mutation_p.Q138*|CASP5_uc010rvb.1_Nonsense_Mutation_p.Q80*|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	138					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTGATCTTTTGGTCCATATTG	0.388000														36			51		0	0	0.000781405	0	0
HEATR2	54919	broad.mit.edu	37	7	796514	796514	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:796514C>T	uc010krz.1	+	5	1373	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	HEATR2_uc003siz.2_Silent_p.S319S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	451							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCTCTGCCTCCGGCCTCCTGG	0.642000														42			32		0	0	0.000814825	0	0
KRT71	112802	broad.mit.edu	37	12	52946563	52946563	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:52946563C>T	uc001sao.3	-	0	369	c.299G>A	c.(298-300)gGa>gAa	p.G100E		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	100	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTGGATGCCTCCAGGTGGGCA	0.637000														14			20		0	0	0.00121646	0	0
NLRP8	126205	broad.mit.edu	37	19	56499263	56499263	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:56499263C>T	uc002qmh.3	+	9	3202	c.3131C>T	c.(3130-3132)tCc>tTc	p.S1044F	NLRP8_uc010etg.3_Missense_Mutation_p.S1025F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	1044						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTGCCTATCCCAGATTAAT	0.502000														35			18		0	0	0.000958276	0	0
PPM1G	5496	broad.mit.edu	37	2	27605342	27605342	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:27605342C>T	uc002rkl.3	-	8	1538	c.1331_splice	c.e8+1	p.W444_splice	ZNF513_uc002rkj.3_5'Flank|ZNF513_uc002rkk.3_5'Flank|PPM1G_uc002rkm.3_Splice_Site_p.W225_splice	NM_177983	NP_817092	O15355	PPM1G_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA.	444					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAGTGCTCACCAGATGCCAT	0.512000														80			39		0	0	0.00148497	0	0
MRPS26	64949	broad.mit.edu	37	20	3026876	3026876	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:3026876C>T	uc002whs.3	+	0	202	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_030811	NP_110438	Q9BYN8	RT26_HUMAN	Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA.	54					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						CGGAGTTCTTCGTGCTGATGG	0.711000														24			14		0	0	0.000422831	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839446	27839446	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:27839446A>G	uc022bud.1	+	0	23	c.23A>G	c.(22-24)aAa>aGa	p.K8R	MAGEB10_uc004dbw.3_Missense_Mutation_p.K8R	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	8										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CAGAAGAGTAAACTCCGTGCC	0.527000														9			13		0	0	0.00185496	0	0
IRX2	153572	broad.mit.edu	37	5	2749606	2749606	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:2749606G>T	uc003jda.3	-	1	787	c.545C>A	c.(544-546)cCg>cAg	p.P182Q	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Missense_Mutation_p.P182Q	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TTTGTTTCTCGGGGCCCAGGT	0.612000														67			5		0.00198382	0.00787083	0.00198382	1	0
PGM2L1	283209	broad.mit.edu	37	11	74085522	74085522	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:74085522G>A	uc001ovb.1	-	1	513	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	73					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATGGCAGAACGAAGTCCTGCA	0.413000														19			15		0	0	0.000422831	0	0
ARAP1	116985	broad.mit.edu	37	11	72422542	72422542	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:72422542G>A	uc001osu.3	-	7	1214	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ARAP1_uc001osv.3_Missense_Mutation_p.S342F|ARAP1_uc001osr.3_Missense_Mutation_p.S102F|ARAP1_uc001oss.3_Missense_Mutation_p.S97F|ARAP1_uc009yth.3_Missense_Mutation_p.S97F|ARAP1_uc010rre.2_Missense_Mutation_p.S97F	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	342	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATAGATGTAAGATCTGGAGAG	0.542000														134			72		0	0	0.000781405	0	0
DUOX2	50506	broad.mit.edu	37	15	45398334	45398334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:45398334C>T	uc001zun.3	-	16	2340	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K	DUOX2_uc010bea.3_Missense_Mutation_p.E713K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	713					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGGTCATACTCCTTAGGGATC	0.597000														14			9		0	0	0.000274275	0	0
ATP8A1	10396	broad.mit.edu	37	4	42545962	42545962	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:42545962C>T	uc003gwr.2	-	19	1926	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	ATP8A1_uc003gws.2_Missense_Mutation_p.G550E|ATP8A1_uc011byz.1_Missense_Mutation_p.G550E	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	565					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCGTAACTTTCCAGATGGAGT	0.328000														28			18		0	0	0.000958276	0	0
CRNN	49860	broad.mit.edu	37	1	152382122	152382122	+	Missense_Mutation	SNP	C	T	T	rs138795800		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152382122C>T	uc001ezx.2	-	2	1510	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	479					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)			TGTGATGCCTCGCTTCTCTTC	0.542000														52			22		0	0	0.00229938	0	0
DGKI	9162	broad.mit.edu	37	7	137237174	137237174	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:137237174C>T	uc003vtt.3	-	19	2089	c.2088G>A	c.(2086-2088)agG>agA	p.R696R	DGKI_uc003vtu.3_Silent_p.R396R	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	696					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						TGGCCTGATTCCTCAGGGAGA	0.493000														50			21		0	0	0.00152264	0	0
TRIM61	391712	broad.mit.edu	37	4	165891010	165891010	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:165891010C>T	uc003iqw.3	-	2	756	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	49						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GGGAAACTATCATGTAGATCC	0.463000														71			15		0	0	0.000422831	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275579	233275579	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:233275579G>A	uc001hvl.2	-	19	3775	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1180						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAGTCTTTCGAACCACATTA	0.323000														40			13		0	0	0.000308642	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784432	27784432	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:27784432T>C	uc002dow.3	+	22	4235	c.4211T>C	c.(4210-4212)tTt>tCt	p.F1404S		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1404										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATTTTCCAGTTTCAGCTTCTC	0.428000														13			14		0	0	0.000566183	0	0
OR5K4	403278	broad.mit.edu	37	3	98072707	98072707	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:98072707G>A	uc011bgv.2	+	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AATGGCTAGGGAAAATCACTC	0.393000														34			18		0	0	0.000958276	0	0
KIF21B	23046	broad.mit.edu	37	1	200960786	200960786	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:200960786T>G	uc001gvs.2	-	17	2771	c.2454_splice	c.e17+1	p.E818_splice	KIF21B_uc009wzl.2_Splice_Site_p.E818_splice|KIF21B_uc001gvr.2_Splice_Site_p.E818_splice|KIF21B_uc010ppn.2_Splice_Site_p.E818_splice	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	818					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGAGCTCACCTCCTGGGTCTT	0.607000														13			14		0	0	0.000308642	0	0
IGSF1	3547	broad.mit.edu	37	X	130408600	130408600	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:130408600C>T	uc004ewe.4	-	17	4022	c.3739G>A	c.(3739-3741)Gat>Aat	p.D1247N	IGSF1_uc004ewd.3_Missense_Mutation_p.D1242N|IGSF1_uc022cdv.1_Missense_Mutation_p.D1233N|IGSF1_uc004ewf.2_Missense_Mutation_p.D1222N	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1242					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCAGGGGATCACTAGGCTCT	0.542000														20			51		0	0	0.000781405	0	0
CEP350	9857	broad.mit.edu	37	1	179989945	179989945	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:179989945A>T	uc001gnt.3	+	11	3419	c.3036A>T	c.(3034-3036)ttA>ttT	p.L1012F	CEP350_uc009wxl.2_Missense_Mutation_p.L1011F|CEP350_uc001gnu.3_Missense_Mutation_p.L846F	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1012						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGAAATTTTAAAAGAAAAGG	0.408000														62			27		0	0	0.000720815	0	0
STAB2	55576	broad.mit.edu	37	12	104109615	104109615	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:104109615C>T	uc001tjw.3	+	42	4746	c.4560C>T	c.(4558-4560)aaC>aaT	p.N1520N	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1520	EGF-like 13.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTTGGAGAACCATGGTGGCT	0.502000														19			29		0	0	0.00209593	0	0
ABCB4	5244	broad.mit.edu	37	7	87037460	87037460	+	Missense_Mutation	SNP	C	G	G	rs140387595	byFrequency	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:87037460C>G	uc003uiv.1	-	24	3248	c.3172G>C	c.(3172-3174)Gag>Cag	p.E1058Q	ABCB4_uc003uiw.1_Missense_Mutation_p.E1058Q|ABCB4_uc003uix.1_Missense_Mutation_p.E1011Q	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1058	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCTTCACCTCCAGGCTCAGC	0.532000														40			25		0	0	0.00278032	0	0
C16orf88	400506	broad.mit.edu	37	16	19726325	19726325	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:19726325C>T	uc002dgq.3	-	1	48	c.33G>A	c.(31-33)ggG>ggA	p.G11G	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank|IQCK_uc010vat.2_5'Flank|IQCK_uc010bwc.3_5'Flank|IQCK_uc010vau.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	11						nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TCTCTGGGAGCCCAAGGTCTA	0.378000														51			33		0	0	0.00128727	0	0
DRD5	1816	broad.mit.edu	37	4	9784667	9784667	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:9784667G>A	uc003gmb.4	+	0	1410	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	338					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				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)	GCGTCAGTGAGACCACCTTCG	0.587000														42			34		0	0	0.00111076	0	0
IL1RAP	3556	broad.mit.edu	37	3	190322008	190322008	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:190322008C>T	uc010hzg.2	+	4	577	c.156C>T	c.(154-156)caC>caT	p.H52H	IL1RAP_uc003fsk.3_Silent_p.H52H|IL1RAP_uc003fsl.3_Silent_p.H52H|IL1RAP_uc003fsm.2_Silent_p.H52H|IL1RAP_uc003fso.2_Silent_p.H52H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Silent_p.H52H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	52	Ig-like C2-type 1.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TCTTTGAACACTTCTTGAAAT	0.493000														41			11		0	0	0.00136819	0	0
POTEC	388468	broad.mit.edu	37	18	14537894	14537894	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:14537894C>T	uc010dln.3	-	2	1170	c.716G>A	c.(715-717)gGa>gAa	p.G239E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	239										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGTGGTATTTCCATACTCATC	0.383000														76			35		0	0	0.00283554	0	0
APCS	325	broad.mit.edu	37	1	159558294	159558294	+	Silent	SNP	G	A	A	rs41317511		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:159558294G>A	uc001ftv.3	+	1	564	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	156	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GGCAGGAACAGGATTCCTATG	0.493000														28			15		0	0	0.000308642	0	0
LUZP2	338645	broad.mit.edu	37	11	24936070	24936070	+	Missense_Mutation	SNP	G	A	A	rs138759346	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:24936070G>A	uc001mqs.3	+	6	782	c.508G>A	c.(508-510)Gat>Aat	p.D170N	LUZP2_uc009yif.3_Missense_Mutation_p.D84N|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	170	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGGGAAGAAGGATTTATTATT	0.313000														27			8		0	0	0.000978159	0	0
DNAH8	1769	broad.mit.edu	37	6	38854694	38854694	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:38854694G>A	uc021yzh.1	+	56	8496	c.8387G>A	c.(8386-8388)cGa>cAa	p.R2796Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R2579Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGTGGTCGAAATGATATT	0.373000														38			27		0	0	0.000720815	0	0
ITGA10	8515	broad.mit.edu	37	1	145531024	145531024	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:145531024C>T	uc001eoa.3	+	6	832	c.756C>T	c.(754-756)gcC>gcT	p.A252A	ITGA10_uc010oyv.2_Silent_p.A121A|ITGA10_uc009wiw.3_Silent_p.A109A|ITGA10_uc010oyw.2_Silent_p.A197A	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	252	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.A252S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAATGGTGGCCTGGTGAGGCA	0.557000														35			9		0	0	0.000978159	0	0
C7	730	broad.mit.edu	37	5	40981538	40981538	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:40981538G>A	uc003jmh.3	+	17	2509	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	799	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGAGTGCGAGGAAGAAGGGTT	0.522000														9			19		0	0	0.00188189	0	0
ADAM30	11085	broad.mit.edu	37	1	120438014	120438014	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:120438014C>T	uc001eij.3	-	0	1134	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	316	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCAGCATATTCTAGAGAACAC	0.408000														411			231		0	0	0.000781405	0	0
NFASC	23114	broad.mit.edu	37	1	204948166	204948167	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:204948166_204948167CC>TT	uc010prc.2	+	16	2177_2178	c.648_649CC>TT	c.(646-651)atcccc>atTTcc	p.P217S	NFASC_uc001hbj.3_Missense_Mutation_p.P650S|NFASC_uc010pra.2_Missense_Mutation_p.P646S|NFASC_uc001hbi.3_Missense_Mutation_p.P646S|NFASC_uc010prb.2_Missense_Mutation_p.P661S|NFASC_uc001hbk.1_Missense_Mutation_p.P456S|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	650	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGACCTGGATCCCCGGGGATGC	0.649000														3			3		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179644115	179644115	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:179644115T>A	uc021vsy.1	-	22	4029	c.3804A>T	c.(3802-3804)gaA>gaT	p.E1268D	TTN_uc021vsz.1_Missense_Mutation_p.E1222D|TTN_uc021vta.1_Missense_Mutation_p.E1222D|TTN_uc021vtb.1_Missense_Mutation_p.E1222D|TTN_uc002unb.2_Missense_Mutation_p.E1268D|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1268							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)			CAAGAAGTTCTTCTAATGTAG	0.299000														22			11		0	0	0.000673444	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751332	26751332	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:26751332G>A	uc003cdp.3	+	1	758	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E57K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E57K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	57	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAATCTCAAGGAAATACCTAG	0.413000														16			27		0	0	0.0024448	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724353	38724353	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:38724353C>T	uc001wum.1	-	0	1222	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	292						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGTCGGCTGTCCTTCCCCACT	0.667000														18			18		0	0	0.00074312	0	0
LRRN1	57633	broad.mit.edu	37	3	3886446	3886446	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:3886446C>T	uc003bpt.4	+	1	882	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.R41C	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	41	LRRNT.					integral to membrane		p.R41H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATGTGAAATTCGTCCCTGGTT	0.458000														19			33		0	0	0.00283554	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503770	27503770	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:27503770G>A	uc002dov.2	-	18	3080	c.3040C>T	c.(3040-3042)Ctg>Ttg	p.L1014L	GTF3C1_uc002dou.3_Silent_p.L1014L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1014						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						CTGCGGGCCAGGTTGTAATGT	0.522000														70			22		0	0	0.000720815	0	0
DCC	1630	broad.mit.edu	37	18	50683833	50683833	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:50683833G>A	uc002lfe.2	+	7	1985	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R	DCC_uc010xdr.1_Missense_Mutation_p.G305R|DCC_uc010dpf.2_Missense_Mutation_p.G112R	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	457	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAAGCGAAAGGGAACATTCA	0.498000														41			26		0	0	0.000720815	0	0
TMEM119	338773	broad.mit.edu	37	12	108985890	108985890	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:108985890G>A	uc001tng.3	-	1	433	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TMEM119_uc021rdl.1_Silent_p.F90F	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	90						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACTGGCGGAAGAAGTCCACTA	0.632000														11			10		0	0	0.00185496	0	0
DEFA4	1669	broad.mit.edu	37	8	6794346	6794346	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:6794346C>A	uc003wqu.1	-	1	127	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	26					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCCTCATCACCTCTTGCCTGG	0.577000														35			16		1.5739e-10	6.31582e-10	0.000422831	1	0
PYHIN1	149628	broad.mit.edu	37	1	158906860	158906860	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:158906860G>A	uc001ftb.3	+	1	410	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	PYHIN1_uc001fta.4_Missense_Mutation_p.E54K|PYHIN1_uc001ftc.3_Missense_Mutation_p.E54K|PYHIN1_uc001ftd.3_Missense_Mutation_p.E54K|PYHIN1_uc001fte.3_Missense_Mutation_p.E54K	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	54	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CTTGATGGAGGAAAAGTTCCC	0.348000														46			30		0	0	0.00127121	0	0
C9orf78	51759	broad.mit.edu	37	9	132595788	132595788	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:132595788G>A	uc004byp.3	-	3	276	c.204C>T	c.(202-204)ccC>ccT	p.P68P	C9orf78_uc004byo.3_5'UTR|C9orf78_uc004byq.1_Silent_p.P14P|USP20_uc004bys.2_5'Flank|USP20_uc004byr.2_5'Flank|USP20_uc004byt.1_5'Flank	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA.	68										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TCATCTGAAAGGGATCATCCT	0.398000														14			28		0	0	0.00209593	0	0
DOT1L	84444	broad.mit.edu	37	19	2220136	2220136	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:2220136C>T	uc002lvc.1	+	8	1370	c.603C>T	c.(601-603)ccC>ccT	p.P201P	DOT1L_uc002lvb.4_Silent_p.P907P|DOT1L_uc002lve.1_Silent_p.P201P	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	907						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TGCTGCAGCCCCGTGACCCCT	0.637000														11			12		0	0	0.00074312	0	0
TRIM55	84675	broad.mit.edu	37	8	67064740	67064740	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:67064740A>T	uc003xvv.3	+	7	1340	c.1114A>T	c.(1114-1116)Aac>Tac	p.N372Y	TRIM55_uc003xvu.3_Missense_Mutation_p.N372Y|TRIM55_uc003xvw.3_Missense_Mutation_p.N372Y|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	372						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGAAGATGAAAACCCAGAAAA	0.527000														41			33		0	0	0.000953801	0	0
TMEM169	92691	broad.mit.edu	37	2	216965042	216965042	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:216965042C>T	uc010zjr.2	+	3	997	c.671C>T	c.(670-672)tCc>tTc	p.S224F	TMEM169_uc010zjs.2_Missense_Mutation_p.S224F|TMEM169_uc002vfw.3_Missense_Mutation_p.S224F|TMEM169_uc002vfv.4_Missense_Mutation_p.S224F	NM_001142310	NP_612399	Q96HH4	TM169_HUMAN	Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA.	224						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCTTCTTCCCTCGGCCTC	0.562000														89			35		0	0	0.00111076	0	0
SBF1	6305	broad.mit.edu	37	22	50894685	50894685	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:50894685G>A	uc003blh.3	-	30	4421	c.4226C>T	c.(4225-4227)tCc>tTc	p.S1409F	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.S1047F	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1383	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCAGGAAGGAGGCTGGGCT	0.637000														15			4		0	0	0.00024832	0	0
ALPK2	115701	broad.mit.edu	37	18	56184326	56184326	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr18:56184326G>A	uc002lhj.4	-	8	5968	c.5754C>T	c.(5752-5754)atC>atT	p.I1918I		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1918	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTCCGTGGCGATCTGACCAC	0.547000														21			23		0	0	0.00278032	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471884	39471884	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:39471884C>T	uc002hwj.3	-	0	64	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.	7						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTGAAGCAGTCCCCCGGGCAG	0.677000														5			13		0	0	0.00244969	0	0
CEP350	9857	broad.mit.edu	37	1	180062691	180062691	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:180062691C>T	uc001gnt.3	+	33	7834	c.7451C>T	c.(7450-7452)tCc>tTc	p.S2484F	CEP350_uc009wxl.2_Missense_Mutation_p.S2483F|CEP350_uc001gnv.3_Missense_Mutation_p.S619F|CEP350_uc001gnw.1_Missense_Mutation_p.S241F|CEP350_uc001gnx.1_Missense_Mutation_p.S241F	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2484						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAATCCCCTTCCTTGGCTTCA	0.453000														26			13		0	0	0.00136819	0	0
ZNF71	58491	broad.mit.edu	37	19	57133224	57133224	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:57133224A>T	uc002qnm.4	+	2	807	c.569A>T	c.(568-570)gAc>gTc	p.D190V	ZNF71_uc021vcg.1_Missense_Mutation_p.D190V	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	190						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCTGCGGGGACTGCGGCAAG	0.637000														22			22		0	0	0.00152264	0	0
CCDC7	221016	broad.mit.edu	37	10	32856725	32856725	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:32856725C>T	uc001iwj.3	+	15	1895	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	CCDC7_uc001iwk.3_Missense_Mutation_p.S442L|CCDC7_uc009xlv.3_Non-coding_Transcript|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.4_5'UTR	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	442										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GGTGAAGATTCAAAAAATATA	0.348000														15			25		0	0	0.000586117	0	0
PPL	5493	broad.mit.edu	37	16	4949107	4949107	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:4949107C>T	uc002cyd.1	-	7	873	c.783G>A	c.(781-783)cgG>cgA	p.R261R		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	261					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.R261Q(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTCCAGGTTCCGGTTGATGA	0.637000														44			23		0	0	0.00047179	0	0
SYT10	341359	broad.mit.edu	37	12	33559882	33559882	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:33559882C>T	uc001rll.1	-	2	1216	c.919G>A	c.(919-921)Gat>Aat	p.D307N	SYT10_uc009zju.1_Missense_Mutation_p.D117N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	307	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTAGTTGATCATATGCTACA	0.343000														37			23		0	0	0.00229938	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016238	22016238	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:22016238G>A	uc010tzk.1	-	0	641	c.479C>T	c.(478-480)tCa>tTa	p.S160L						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		TGCTAACCATGAAGTGGGCAT	0.378000														52			6		0	0	0.00198382	0	0
C8A	731	broad.mit.edu	37	1	57349331	57349331	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:57349331G>A	uc001cyo.2	+	5	964	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	278	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						ATTCTTGAACGAATTAAACAA	0.403000														31			17		0	0	0.000566183	0	0
ABHD13	84945	broad.mit.edu	37	13	108882144	108882144	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr13:108882144C>T	uc001vqq.3	+	1	843	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ABHD13_uc021rml.1_Missense_Mutation_p.S193F	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN	Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA.	193						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTGGCCGTTCCTTGGGTGGA	0.403000														55			30		0	0	0.00127121	0	0
MSLNL	401827	broad.mit.edu	37	16	824237	824237	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:824237A>T	uc002cjz.1	-	8	1919	c.1919T>A	c.(1918-1920)tTc>tAc	p.F640Y		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	289					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGACTCCAGGAAGCTGGTGAC	0.677000														9			4		0	0	0.000602214	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249953	219249953	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:219249953G>A	uc002vhv.3	+	3	697	c.357G>A	c.(355-357)aaG>aaA	p.K119K	SLC11A1_uc010zkb.1_Silent_p.K119K|SLC11A1_uc010fvp.1_Silent_p.K119K|SLC11A1_uc010fvq.1_Silent_p.K52K|SLC11A1_uc010zkc.1_Silent_p.K52K|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	119					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAGGCAAGGACTTGGGCG	0.622000														60			15		0	0	0.000308642	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348852	30348852	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:30348852G>A	uc002hgu.3	+	0	698	c.687G>A	c.(685-687)atG>atA	p.M229I	LRRC37B_uc010wbx.2_Missense_Mutation_p.M147I|LRRC37B_uc010csu.3_Missense_Mutation_p.M229I	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	229						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTTGAGTATGGACACACTGT	0.498000														25			45		0	0	0.000680045	0	0
CNGB3	54714	broad.mit.edu	37	8	87616424	87616424	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:87616424C>T	uc003ydx.3	-	14	1726	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	CNGB3_uc010maj.3_Missense_Mutation_p.E422K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	560					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATATACATTTCCTTGCCAATT	0.338000														31			15		0	0	0.000308642	0	0
PKP3	11187	broad.mit.edu	37	11	396967	396968	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:396967_396968CC>TT	uc021qbk.1	+	3	540_541	c.511_512CC>TT	c.(511-513)ccc>TTc	p.P171F	PKP3_uc001lpc.3_Missense_Mutation_p.P156F	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	156					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACCCCTCCCATGCCCACC	0.718000														11			4		0	0	6.4e-05	0	0
AFP	174	broad.mit.edu	37	4	74302028	74302028	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:74302028G>A	uc003hgz.1	+	0	96	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AFP_uc003hgy.1_Intron	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	17					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)			AAATTTTACTGAATCCAGAAC	0.284000									Alpha-Fetoprotein, Hereditary Persistence of					30			21		0	0	0.000878237	0	0
OR4A47	403253	broad.mit.edu	37	11	48510399	48510399	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:48510399C>T	uc010rhx.2	+	0	55	c.55C>T	c.(55-57)Cca>Tca	p.P19S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CACACAGAATCCAAAGGAGCA	0.418000														23			10		0	0	0.000978159	0	0
NPHS1	4868	broad.mit.edu	37	19	36330412	36330412	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36330412C>T	uc002oby.3	-	20	3069	c.2913G>A	c.(2911-2913)caG>caA	p.Q971Q	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	971	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			TGCAGAACCTCTGTGGCAGGC	0.592000														40			37		0	0	0.000781405	0	0
MCF2L2	23101	broad.mit.edu	37	3	183017899	183017899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:183017899G>A	uc003fli.1	-	10	1289	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	MCF2L2_uc003flj.1_Missense_Mutation_p.P400L|MCF2L2_uc011bqr.1_Non-coding_Transcript|MCF2L2_uc003flp.1_3'UTR	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	400					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CACACACCGGGGCCTGATGGC	0.512000														38			12		0	0	0.00136819	0	0
SLC24A1	9187	broad.mit.edu	37	15	65916838	65916838	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:65916838G>A	uc010ujf.2	+	1	707	c.420G>A	c.(418-420)agG>agA	p.R140R	SLC24A1_uc010ujd.1_Silent_p.R140R|SLC24A1_uc010uje.1_Silent_p.R140R|SLC24A1_uc010ujg.2_Silent_p.R140R|SLC24A1_uc010ujh.2_Silent_p.R140R	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	140					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGAAAGAAGGAAGGAAGACA	0.438000														11			5		0	0	0.000602214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221258	140221258	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr5:140221258C>T	uc003lhs.2	+	0	352	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	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_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.H118Y	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	133	Cadherin 1.				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)			GCAGGTTTTCCATGTGGACGT	0.557000														38			61		0	0	0.000781405	0	0
ABP1	26	broad.mit.edu	37	7	150553714	150553714	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:150553714G>A	uc003why.1	+	2	4374	c.156G>A	c.(154-156)aaG>aaA	p.K52K	ABP1_uc003whz.1_Silent_p.K52K|ABP1_uc003wia.1_Silent_p.K52K	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	52					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GGTCCAAGAAGGAGCTGAGGC	0.582000														35			23		0	0	0.00047179	0	0
GPS2	2874	broad.mit.edu	37	17	7230508	7230508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:7230508G>A	uc002gga.1	-	2	776	c.769C>T	c.(769-771)Cct>Tct	p.P257S	GPS2_uc002ggb.1_Missense_Mutation_p.P257S|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGCTGTTAGGAAACGTCTCC	0.627000														8			9		0	0	0.000673444	0	0
ZAN	7455	broad.mit.edu	37	7	100349913	100349913	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:100349913G>A	uc003uwj.3	+	13	2350	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	ZAN_uc003uwk.3_Missense_Mutation_p.E729K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	729	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACAGAAAAATCCAC	0.522000														21			12		0	0	0.00136819	0	0
SLC6A4	6532	broad.mit.edu	37	17	28538366	28538366	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:28538366G>A	uc002hey.4	-	9	1825	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	427					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ACATCAGAAAGAAGATGATGG	0.537000														16			25		0	0	0.00106085	0	0
ZNF208	7757	broad.mit.edu	37	19	22171613	22171613	+	Silent	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:22171613T>C	uc021urr.1	-	1	251	c.102A>G	c.(100-102)ttA>ttG	p.L34L	ZNF208_uc002nqo.1_Silent_p.L34L|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGTTCTCTAACATCACAT	0.413000														33			40		0	0	0.00222228	0	0
SORT1	6272	broad.mit.edu	37	1	109859567	109859567	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:109859567G>A	uc001dxm.2	-	16	2204	c.2155C>T	c.(2155-2157)Cca>Tca	p.P719S	SORT1_uc010ovi.2_Missense_Mutation_p.P582S	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	719	Interactions with LRPAP1 and NGFB.				Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGTCCCCTGGAATTTTCCGG	0.413000														225			126		0	0	0.000781405	0	0
CCDC40	55036	broad.mit.edu	37	17	78055753	78055753	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:78055753G>A	uc010dht.3	+	11	1916	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	CCDC40_uc021uem.1_Missense_Mutation_p.D629N|CCDC40_uc002jxm.4_Missense_Mutation_p.D412N|CCDC40_uc002jxn.4_Missense_Mutation_p.D25N	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	629					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGAAGACGGATGCTGCCAT	0.567000														25			14		0	0	0.00244969	0	0
SLIT2	9353	broad.mit.edu	37	4	20598263	20598263	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr4:20598263G>A	uc003gpr.1	+	31	3750	c.3546G>A	c.(3544-3546)acG>acA	p.T1182T	SLIT2_uc003gps.1_Silent_p.T1174T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1182	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCCTCAGACGAACATAACAC	0.383000														25			19		0	0	0.00152264	0	0
ABCA2	20	broad.mit.edu	37	9	139906452	139906452	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:139906452G>A	uc004ckm.1	-	34	5516	c.5466C>T	c.(5464-5466)gtC>gtT	p.V1822V	ABCA2_uc022bpy.1_Silent_p.V1723V|ABCA2_uc022bpz.1_Silent_p.V1793V|ABCA2_uc011mem.1_Silent_p.V1792V|ABCA2_uc004ckl.1_Silent_p.V1723V	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1792					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGCGATGACGACATCCGTGC	0.637000														6			23		0	0	0.000720815	0	0
SPATC1	375686	broad.mit.edu	37	8	145095179	145095179	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:145095179C>T	uc011lkw.2	+	1	683	c.581C>T	c.(580-582)tCt>tTt	p.S194F	SPATC1_uc011lkx.2_Missense_Mutation_p.S194F	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	194										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGCTGTCTCTCTGAGCAGC	0.667000														26			14		0	0	0.000566183	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925386	67925386	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:67925386C>T	uc001onm.1	-	10	2683	c.2427G>A	c.(2425-2427)ttG>ttA	p.L809L	SUV420H1_uc009yse.1_Silent_p.L395L|SUV420H1_uc001onn.1_Silent_p.L637L|SUV420H1_uc009ysf.2_Silent_p.L569L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTCGAGACTCCAAGAGAGAAA	0.443000														118			66		0	0	0.000781405	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801501	44801501	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:44801501C>T	uc003tlr.3	+	10	1716	c.1593C>T	c.(1591-1593)tgC>tgT	p.C531C	ZMIZ2_uc003tlq.3_Silent_p.C473C|ZMIZ2_uc003tls.3_Silent_p.C505C|ZMIZ2_uc003tlt.3_Silent_p.C154C|ZMIZ2_uc010kyj.3_Silent_p.C53C	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	531					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCGCCTGCTGCTGCGTGCGTG	0.706000														23			8		0	0	0.000274275	0	0
ACAN	176	broad.mit.edu	37	15	89400408	89400408	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr15:89400408G>A	uc010upo.1	+	11	4966	c.4592G>A	c.(4591-4593)gGa>gAa	p.G1531E	ACAN_uc010upp.1_Missense_Mutation_p.G1531E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1531					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCTTCTGGAGAAGAAGTT	0.507000														27			14		0	0	0.00185496	0	0
NAV3	89795	broad.mit.edu	37	12	78400287	78400287	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:78400287C>T	uc001syp.3	+	7	1142	c.969C>T	c.(967-969)atC>atT	p.I323I	NAV3_uc001syo.3_Silent_p.I323I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	323						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTCTGCCATCCCTTCTCCAA	0.532000										HNSCC(70;0.22)				21			33		0	0	0.0024448	0	0
OR10A4	283297	broad.mit.edu	37	11	6898405	6898405	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:6898405A>G	uc010rat.2	+	0	550	c.527A>G	c.(526-528)aAc>aGc	p.N176S		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACAGGGTGAACCACTTCTTC	0.522000														50			24		0	0	0.000878237	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328225	62328225	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:62328225C>T	uc002yfy.3	+	4	733	c.105C>T	c.(103-105)acC>acT	p.T35T	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_Silent_p.T35T	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	35					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)			AAACACCCACCTACCCCTGGC	0.726000														5			6		0	0	0.00198382	0	0
PEG3	5178	broad.mit.edu	37	19	57328178	57328178	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:57328178G>A	uc002qnu.2	-	6	1983	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.F515F|PEG3_uc002qnv.2_Silent_p.F544F|PEG3_uc002qnw.2_Silent_p.F420F|PEG3_uc002qnx.2_Silent_p.F418F|PEG3_uc010etr.2_Silent_p.F544F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	544					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTAGGCATGAAGGCTTCCT	0.453000														81			48		0	0	0.000781405	0	0
CDCA2	157313	broad.mit.edu	37	8	25343304	25343304	+	Silent	SNP	T	C	C			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:25343304T>C	uc003xep.1	+	10	1872	c.1395T>C	c.(1393-1395)ttT>ttC	p.F465F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.F465F|CDCA2_uc003xeq.1_Silent_p.F450F|CDCA2_uc003xer.1_Silent_p.F128F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	465					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAGTATCATTTGCCGTTCTCA	0.313000														48			23		0	0	0.000586117	0	0
ZNF184	7738	broad.mit.edu	37	6	27424695	27424695	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:27424695G>A	uc003njj.3	-	3	1019	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	ZNF184_uc010jqv.3_Nonsense_Mutation_p.Q70*|ZNF184_uc003nji.3_Nonsense_Mutation_p.Q70*	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTAGAAACTTGGAGTCCTGTT	0.418000														41			32		0	0	0.00283554	0	0
MSR1	4481	broad.mit.edu	37	8	16001079	16001079	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:16001079C>T	uc010lsu.3	-	7	1139	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R	MSR1_uc003wwz.3_Missense_Mutation_p.G341R|MSR1_uc003wxa.3_Missense_Mutation_p.G341R|MSR1_uc003wxb.3_Missense_Mutation_p.G341R|MSR1_uc011kxz.2_Missense_Mutation_p.G115R	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	341	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.H359H(3)|p.H359Y(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTGTTTCCACTCCCCTTT	0.348000														37			19		0	0	0.00047179	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243589849	243589849	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:243589849G>A	uc001hzw.3	+	15	2143	c.1974G>A	c.(1972-1974)acG>acA	p.T658T	SDCCAG8_uc010pyk.2_Silent_p.T513T|SDCCAG8_uc010pyl.2_Silent_p.T470T|SDCCAG8_uc001hzx.3_Silent_p.T391T	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	658	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TACATGAGACGATGAAGCAAA	0.393000														25			22		0	0	0.000586117	0	0
CALCRL	10203	broad.mit.edu	37	2	188216985	188216985	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:188216985G>A	uc010frt.3	-	11	1367	c.984C>T	c.(982-984)tcC>tcT	p.S328S	CALCRL_uc002upv.4_Silent_p.S328S	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	328						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)			TGTACAGATTGGATTCCGCTT	0.393000														31			14		0	0	0.000422831	0	0
NAV3	89795	broad.mit.edu	37	12	78593243	78593243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:78593243G>A	uc001syp.3	+	36	6820	c.6647G>A	c.(6646-6648)tGg>tAg	p.W2216*	NAV3_uc001syo.3_Nonsense_Mutation_p.W2194*|NAV3_uc010sub.2_Nonsense_Mutation_p.W1673*|NAV3_uc009zsf.3_Nonsense_Mutation_p.W1025*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2216						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTATAGATTGGATTCCGAAG	0.363000										HNSCC(70;0.22)				23			37		0	0	0.00148497	0	0
OR6C1	390321	broad.mit.edu	37	12	55715045	55715045	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:55715045G>A	uc010spi.2	+	0	662	c.662G>A	c.(661-663)aGa>aAa	p.R221K		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I220I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TACATTATCAGAACAATTTTG	0.383000														15			28		0	0	0.00106085	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410577	105410577	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:105410577C>A	uc010axc.1	-	6	11331	c.11211G>T	c.(11209-11211)aaG>aaT	p.K3737N	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K3637N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3737						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGGGGCCCTTGAGGTCCA	0.627000														43			62		7.93689e-15	3.19409e-14	0.000781405	1	0
SYK	6850	broad.mit.edu	37	9	93629429	93629429	+	Missense_Mutation	SNP	G	A	A	rs143341039		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr9:93629429G>A	uc004aqz.3	+	6	1068	c.863G>A	c.(862-864)gGa>gAa	p.G288E	SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Missense_Mutation_p.G288E|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	288	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCAGCGGGTGGAATAATCTCA	0.443000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									32			48		0	0	0.000781405	0	0
PLEC	5339	broad.mit.edu	37	8	144997235	144997235	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:144997235G>A	uc003zaf.1	-	30	7443	c.7273C>T	c.(7273-7275)Caa>Taa	p.Q2425*	PLEC_uc003zab.1_Nonsense_Mutation_p.Q2288*|PLEC_uc003zac.1_Nonsense_Mutation_p.Q2292*|PLEC_uc003zad.2_Nonsense_Mutation_p.Q2288*|PLEC_uc003zae.1_Nonsense_Mutation_p.Q2256*|PLEC_uc003zag.1_Nonsense_Mutation_p.Q2266*|PLEC_uc003zah.2_Nonsense_Mutation_p.Q2274*|PLEC_uc003zaj.2_Nonsense_Mutation_p.Q2315*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2425	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						GCAGCCTCTTGGGCCGCCACA	0.642000														14			4		0	0	0.000602214	0	0
GPR123	84435	broad.mit.edu	37	10	134898530	134898530	+	Missense_Mutation	SNP	G	A	A	rs138358765	by1000genomes	TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:134898530G>A	uc001llw.3	+	7	1592	c.1592G>A	c.(1591-1593)cGa>cAa	p.R531Q	GPR123_uc001llx.4_5'Flank			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						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)		GAATCCGGGCGATACGTGGTG	0.512000														18			33		0	0	0.00128727	0	0
CLCN7	1186	broad.mit.edu	37	16	1507738	1507738	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:1507738G>A	uc002clv.2	-	7	805	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_uc002clw.2_Missense_Mutation_p.S208F	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	232						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607000														36			12		0	0	0.000422831	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613332	175613332	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:175613332C>T	uc002ujd.2	-	8	1371	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.M406I	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	431					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GGTCTGACTTCATGGTCTCTG	0.507000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			22		0	0	0.00152264	0	0
LRG1	116844	broad.mit.edu	37	19	4538062	4538062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:4538062G>A	uc002mau.3	-	1	945	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	312	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGCCAACGATAGAGGTCG	0.592000														13			32		0	0	0.00209593	0	0
ACTR5	79913	broad.mit.edu	37	20	37400315	37400315	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:37400315G>A	uc002xjd.2	+	8	1705	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	560					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				ATGAAGAAAAGGGAGGAGAGT	0.552000														35			21		0	0	0.00106085	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869567	151869567	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:151869567A>G	uc022chf.1	+	0	257	c.257A>G	c.(256-258)gAc>gGc	p.D86G	MAGEA6_uc004ffq.1_Missense_Mutation_p.D86G|MAGEA6_uc004ffr.1_Missense_Mutation_p.D86G	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	86							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTATGAGGACTCCAGCAAC	0.572000														8			29		0	0	0.000953801	0	0
ADAP2	55803	broad.mit.edu	37	17	29272027	29272027	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr17:29272027G>A	uc010csk.3	+	5	910	c.631G>A	c.(631-633)Gat>Aat	p.D211N	ADAP2_uc002hfy.3_Missense_Mutation_p.D205N|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.D205N	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	205	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTACAGGAGAGATGGCCACAC	0.547000														11			15		0	0	0.000422831	0	0
CRTC1	23373	broad.mit.edu	37	19	18870915	18870915	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:18870915C>T	uc010ebv.3	+	8	899	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	CRTC1_uc002nkb.4_Missense_Mutation_p.P255S|CRTC1_uc010ebw.3_Missense_Mutation_p.P120S	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	255					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CATCCACTTCCCCTCCCCGCT	0.672000														4			20		0	0	0.00188189	0	0
MED12L	116931	broad.mit.edu	37	3	150877779	150877779	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:150877779G>A	uc003eyp.3	+	6	1127	c.998G>A	c.(997-999)aGc>aAc	p.S333N	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.S333N|MED12L_uc003eyo.3_Missense_Mutation_p.S333N	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	333					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGGCCCCCAGCCCTGGCCCC	0.597000														68			22		0	0	0.00229938	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841502	8841502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:8841502G>A	uc010xkg.2	+	0	112	c.112G>A	c.(112-114)Ggc>Agc	p.G38S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTTGTCATAGGCCTTCTGGG	0.547000														14			24		0	0	0.000586117	0	0
NARFL	64428	broad.mit.edu	37	16	780930	780930	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:780930C>T	uc002cjr.3	-	9	1117	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	NARFL_uc002cjp.3_Missense_Mutation_p.G267S|NARFL_uc002cjq.3_Missense_Mutation_p.G267S|NARFL_uc021tab.1_Non-coding_Transcript	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	369					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TTGCGGAAGCCGTACGCCATT	0.607000														45			21		0	0	0.00229938	0	0
HYDIN	54768	broad.mit.edu	37	16	70954536	70954536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:70954536C>T	uc002ezr.3	-	45	7891	c.7740G>A	c.(7738-7740)tgG>tgA	p.W2580*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2581										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGCCTGCTTCCAGCTCAAGC	0.587000														9			8		0	0	0.000442599	0	0
VWA3B	200403	broad.mit.edu	37	2	98804458	98804458	+	Silent	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:98804458C>T	uc002syo.3	+	9	1596	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	VWA3B_uc010yvh.2_Silent_p.V294V|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.V444V|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Silent_p.V101V	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	444										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAAGACAGTCCATGCAAAAT	0.483000														23			26		0	0	0.000586117	0	0
DNAH11	8701	broad.mit.edu	37	7	21827122	21827122	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:21827122A>T	uc003svc.3	+	60	9897	c.9866A>T	c.(9865-9867)aAt>aTt	p.N3289I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3289	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAGAGTTTAATCCAAACCTG	0.373000									Kartagener syndrome					39			29		0	0	0.000878237	0	0
FLG	2312	broad.mit.edu	37	1	152282710	152282710	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:152282710C>T	uc001ezu.1	-	2	4688	c.4652G>A	c.(4651-4653)gGa>gAa	p.G1551E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1551	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GGAGCCGTCTCCTGATTGTTC	0.597000									Ichthyosis					155			56		0	0	0.000781405	0	0
SLC30A8	169026	broad.mit.edu	37	8	118175718	118175718	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:118175718T>G	uc003yoh.3	+	5	1008	c.778T>G	c.(778-780)Ttg>Gtg	p.L260V	SLC30A8_uc010mcz.3_Missense_Mutation_p.L211V|SLC30A8_uc003yog.3_Missense_Mutation_p.L211V|SLC30A8_uc011lia.2_Missense_Mutation_p.L211V|SLC30A8_uc022bab.1_Missense_Mutation_p.L211V|Metazoa_SRP_uc022bac.1_5'Flank	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	260					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CATCCTGGTCTTGGCCAGCAC	0.403000														469			38		0	0	0.000781405	0	0
SMOC1	64093	broad.mit.edu	37	14	70461195	70461195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr14:70461195C>T	uc001xlt.2	+	6	944	c.662C>T	c.(661-663)tCa>tTa	p.S221L	SMOC1_uc001xls.2_Missense_Mutation_p.S221L	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	221					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATAAGAAATTCAGGTAAATAA	0.413000														67			7		0	0	0.000157383	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854848	67854848	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:67854848G>A	uc010vka.2	+	2	330	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Intron|TSNAXIP1_uc002eug.4_Intron|TSNAXIP1_uc002euh.4_Intron|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Missense_Mutation_p.R31Q|TSNAXIP1_uc002euk.3_5'Flank	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	31					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R31L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACCGGAAGCGAGTAGGGTAA	0.597000														54			26		0	0	0.00127121	0	0
ACADS	35	broad.mit.edu	37	12	121176354	121176354	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:121176354C>T	uc001tza.4	+	6	932	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	ACADS_uc010szl.1_Missense_Mutation_p.R268C	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	272	Substrate binding.					mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGACATGGGCCGCATCGGCAT	0.706000														35			94		0	0	0.000781405	0	0
MCPH1	79648	broad.mit.edu	37	8	6302358	6302358	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:6302358A>G	uc003wqi.3	+	7	1191	c.1115A>G	c.(1114-1116)aAg>aGg	p.K372R	MCPH1_uc003wqh.3_Missense_Mutation_p.K372R|MCPH1_uc011kwl.2_Missense_Mutation_p.K324R	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	372						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAAATGCAAGAGAAAGAGG	0.522000														37			7		0	0	0.00198382	0	0
MUC5B	727897	broad.mit.edu	37	11	1252739	1252739	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:1252739C>T	uc001lta.3	+	13	1686	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.L543F	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	543	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			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)		GCTGGTGCCACTCATGCAGGT	0.667000														5			3		0	0	6.4e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	167992518	167992518	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:167992518G>A	uc002udx.3	+	2	597	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	XIRP2_uc010fpn.3_Missense_Mutation_p.E170K|XIRP2_uc010fpo.3_Missense_Mutation_p.E170K|XIRP2_uc002udy.3_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAGGCAAGGAAACATCTTT	0.438000														48			24		0	0	0.000586117	0	0
XRCC1	7515	broad.mit.edu	37	19	44047642	44047642	+	Missense_Mutation	SNP	G	A	A	rs137950555		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:44047642G>A	uc002owt.2	-	16	1924	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S	XRCC1_uc010xwp.1_Missense_Mutation_p.P571S	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	602	BRCT 2.				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)				GCCAGGGAGGGGTTGTCCATC	0.582000								Other BER factors						47			25		0	0	0.00106085	0	0
PRSS38	339501	broad.mit.edu	37	1	228004911	228004911	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:228004911G>A	uc001hrh.3	+	3	312	c.312_splice	c.e3-1	p.R104_splice		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCCCCACAGGGACAAGAATAT	0.577000														32			14		0	0	0.000308642	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205768	36205768	+	Silent	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr19:36205768G>A	uc002oay.3	+	1	450	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ZBTB32_uc002oaz.3_Non-coding_Transcript	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	80	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTGTGTATGGGGAGAGTGTAG	0.632000														62			22		0	0	0.000720815	0	0
CCDC60	160777	broad.mit.edu	37	12	119961610	119961610	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:119961610G>A	uc001txe.3	+	10	1681	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	406										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACAAGATGGAAATCCTCAT	0.493000														8			26		0	0	0.000720815	0	0
FAM83C	128876	broad.mit.edu	37	20	33876313	33876313	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr20:33876313C>T	uc021wck.1	-	2	875	c.757G>A	c.(757-759)Gag>Aag	p.E253K	FAM83C_uc002xcb.1_Missense_Mutation_p.E77K	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	253								p.E253K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACGAACTTCTCCAGGGCCTGC	0.632000														30			17		0	0	0.00121646	0	0
CSMD1	64478	broad.mit.edu	37	8	2836242	2836242	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr8:2836242C>T	uc022aqr.1	-	54	8848	c.8458G>A	c.(8458-8460)Gga>Aga	p.G2820R	CSMD1_uc011kwj.2_Missense_Mutation_p.G2150R|CSMD1_uc010lrg.3_Missense_Mutation_p.G831R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2821	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATACTCATTCCATACTCAAAA	0.448000														16			5		0	0	0.000602214	0	0
SOX10	6663	broad.mit.edu	37	22	38379572	38379572	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr22:38379572C>T	uc003aun.1	-	1	498	c.220G>A	c.(220-222)Gag>Aag	p.E74K	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.E74K|SOX10_uc010gxj.3_Missense_Mutation_p.E74K|AK098727_uc003aup.3_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	74						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTGACGGCCTCGCGGATGCAC	0.697000														6			4		0	0	0.000602214	0	0
PPM1L	151742	broad.mit.edu	37	3	160474204	160474204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:160474204G>A	uc003fdr.3	+	0	209	c.108G>A	c.(106-108)tgG>tgA	p.W36*		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	36					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGGCTCTATGGAGTTACTTCT	0.542000														51			10		0	0	0.000442599	0	0
USP16	10600	broad.mit.edu	37	21	30409680	30409680	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr21:30409680G>A	uc002ymy.3	+	5	734	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	USP16_uc002ymx.3_Missense_Mutation_p.E177K|USP16_uc002ymw.3_Missense_Mutation_p.E178K|USP16_uc011acm.2_Missense_Mutation_p.E163K|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	178					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.K177E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAAAAGAAGGAAAACATGGC	0.318000														27			24		0	0	0.00047179	0	0
PRSS1	5644	broad.mit.edu	37	7	142458429	142458429	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr7:142458429G>A	uc003wak.2	+	1	81	c.64G>A	c.(64-66)Gac>Aac	p.D22N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	22			D -> G (in PCTT; increased rate of activation).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGATGATGATGACAAGATCGT	0.532000														136			19		0	0	0.000878237	0	0
MSH5	4439	broad.mit.edu	37	6	31708975	31708975	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:31708975G>T	uc003nwu.2	+	2	311	c.183G>T	c.(181-183)ttG>ttT	p.L61F	MSH5_uc003nwx.2_Missense_Mutation_p.L61F|MSH5_uc003nwv.2_Missense_Mutation_p.L61F|MSH5_uc003nww.2_Missense_Mutation_p.L61F	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	61					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.L61F(2)		breast(1)|ovary(2)|skin(2)	5						CAGGATACTTGGGCATTGCCT	0.473000								Direct reversal of damage;Mismatch excision repair (MMR)						324			10		0.000442599	0.00176099	0.000442599	1	0
HYDIN	54768	broad.mit.edu	37	16	70841964	70841964	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr16:70841964G>A	uc002ezr.3	-	86	15032	c.14881_splice	c.e86-1	p.T4961_splice	HYDIN_uc010cfy.3_Splice_Site	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4962										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTACAGTCGGTCTGAAAGGG	0.542000														45			16		0	0	0.00121646	0	0
GSPT2	23708	broad.mit.edu	37	X	51488475	51488475	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chrX:51488475C>T	uc004dpl.3	+	0	1995	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	585					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATGCATTGCTCGTTTAAGGAC	0.423000														9			28		0	0	0.00209593	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190197	119190197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr3:119190197C>T	uc003ecm.3	+	2	302	c.218C>T	c.(217-219)tCc>tTc	p.S73F	POGLUT1_uc011biz.1_Non-coding_Transcript|POGLUT1_uc011bja.2_5'UTR	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA.	73						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GGAGGCATCTCCAGGAAGATG	0.502000														75			47		0	0	0.000781405	0	0
LGSN	51557	broad.mit.edu	37	6	63991013	63991013	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr6:63991013A>G	uc003peh.3	-	3	477	c.443T>C	c.(442-444)gTc>gCc	p.V148A	LGSN_uc003pei.3_Missense_Mutation_p.V148A	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	148					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGGCATTAGGACTATGTCGCT	0.418000														89			7		0	0	0.00198382	0	0
SCN1A	6323	broad.mit.edu	37	2	166895947	166895947	+	Missense_Mutation	SNP	G	A	A	rs121918784		TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr2:166895947G>A	uc002udo.4	-	15	2802	c.2575C>T	c.(2575-2577)Cgt>Tgt	p.R859C	SCN1A_uc010fpk.3_Missense_Mutation_p.R831C|SCN1A_uc021vsb.1_Missense_Mutation_p.R848C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	859			R -> C (in GEFS+2; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel; dbSNP:rs121918784).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGAAATGAACGGAGAACAGAT	0.363000														27			12		0	0	0.00244969	0	0
RYR2	6262	broad.mit.edu	37	1	237850796	237850796	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:237850796C>T	uc001hyl.1	+	62	9179	c.9059C>T	c.(9058-9060)tCa>tTa	p.S3020L	RYR2_uc010pxz.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3020					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATAGGATTTCACTATTTGGT	0.413000														20			5		0	0	0.00116845	0	0
OLFML1	283298	broad.mit.edu	37	11	7530732	7530733	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr11:7530732_7530733GG>AA	uc001mfi.3	+	2	1029_1030	c.522_523GG>AA	c.(520-525)aaggtg>aaAAtg	p.V175M	OLFML1_uc010raz.2_Missense_Mutation_p.V39M|OLFML1_uc010rba.2_Missense_Mutation_p.V175M	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	175	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACTCTCCAAAGGTGTACTTATT	0.421000														56			25		0	0	6.4e-05	0	0
DRGX	644168	broad.mit.edu	37	10	50594844	50594844	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr10:50594844C>T	uc010qgq.2	-	3	310	c.310G>A	c.(310-312)Gag>Aag	p.E104K	DRGX_uc021pqd.1_Missense_Mutation_p.E99K	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	104					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTCCTGGCTCCTGGTCTGAG	0.562000														32			43		0	0	0.000781405	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	35	---	---	9	---					
R3HDM2	22864	broad.mit.edu	37	12	57663166	57663167	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-FS-A1ZQ-06A-11D-A197-08	TCGA-FS-A1ZQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a88ce52-7543-40bc-9e8f-3341a4a1df15	b5103c25-5000-4999-a2da-99e0276b9428	g.chr12:57663166_57663167delGA	uc009zpm.1	-	13	1646_1647	c.1611_1612delTC	c.(1609-1614)tctcacfs	p.S537fs	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Frame_Shift_Del_p.S232fs|R3HDM2_uc001snr.2_Frame_Shift_Del_p.S264fs|R3HDM2_uc001sns.2_Frame_Shift_Del_p.S537fs|R3HDM2_uc001snt.2_Frame_Shift_Del_p.S551fs	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	537	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCACCGGGTGAGAGAGAGGTC	0.525													---	32	---	---	26	---					
