Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KRT3	3850	broad.mit.edu	37	12	53189282	53189282	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:53189282G>A	ENST00000417996.2	-	1	619	c.545C>T	c.(544-546)cCc>cTc	p.P182L	KRT3_ENST00000309505.3_Missense_Mutation_p.P182L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	182	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CACATTGAGGGGCTGCAGGAG	0.562000													10	27					0	0	0.00010058	0	0
OR4K1	79544	broad.mit.edu	37	14	20404440	20404440	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:20404440G>A	ENST00000285600.4	+	1	674	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ACAGTGGCCTGATATCATTGA	0.438000													15	41					0	0	0.000566183	0	0
CYP2C18	1562	broad.mit.edu	37	10	96466712	96466712	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:96466712G>A	ENST00000285979.6	+	5	1013	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CYP2C18_ENST00000339022.5_Intron|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GATCAAAATGGAACAGGTAAA	0.348000													9	32					0	0	0.00010058	0	0
FAM171B	165215	broad.mit.edu	37	2	187627263	187627263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:187627263C>T	ENST00000304698.5	+	8	2397	c.2194C>T	c.(2194-2196)Cag>Tag	p.Q732*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	732						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCATGCATCAGCCCAAGAT	0.483000													32	78					0	0	0.000132358	0	0
C1orf173	127254	broad.mit.edu	37	1	75037652	75037652	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:75037652G>A	ENST00000326665.5	-	14	3960	c.3742C>T	c.(3742-3744)Cac>Tac	p.H1248Y	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1248	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGGAGTCGTGATCTTTGGCT	0.602000													12	36					0	0	0.000308642	0	0
CD34	947	broad.mit.edu	37	1	208062929	208062929	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:208062929C>T	ENST00000356522.4	-	5	956	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CD34_ENST00000367036.3_Missense_Mutation_p.R54Q|CD34_ENST00000310833.7_Missense_Mutation_p.R212Q|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R77Q	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	212					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACACAGCACTCGGGCCAGGCC	0.582000													18	39					0	0	0.000132079	0	0
ARNT	405	broad.mit.edu	37	1	150812123	150812123	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:150812123G>A	ENST00000358595.5	-	6	480	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	ARNT_ENST00000505755.1_Missense_Mutation_p.H79Y|ARNT_ENST00000515192.1_Missense_Mutation_p.H85Y|ARNT_ENST00000354396.2_Missense_Mutation_p.H94Y	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	94					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTTCACTGTGATTTTCCCTG	0.498000			T	ETV6	AML								5	12					0	0	0.000602214	0	0
ITLN2	142683	broad.mit.edu	37	1	160920977	160920977	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:160920977C>T	ENST00000368029.3	-	4	354	c.297G>A	c.(295-297)gaG>gaA	p.E99E		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	99	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCATGTCATTCTCGTGCACGC	0.582000													8	26					0	0	0.000274275	0	0
MYH4	4622	broad.mit.edu	37	17	10358061	10358061	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:10358061C>T	ENST00000255381.2	-	22	2612	c.2502G>A	c.(2500-2502)atG>atA	p.M834I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	834					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						AATACAGCTTCATCCAGGGCC	0.438000													19	69					0	0	0.000132079	0	0
LHCGR	3973	broad.mit.edu	37	2	48958405	48958405	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:48958405G>A	ENST00000294954.7	-	2	215	c.194C>T	c.(193-195)cCa>cTa	p.P65L	LHCGR_ENST00000403273.1_Missense_Mutation_p.P65L|LHCGR_ENST00000401907.1_Missense_Mutation_p.P65L|LHCGR_ENST00000344775.3_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.P65L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	65	LRRNT.				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTTGAGATGGGATCACTTT	0.328000													30	92					0	0	0.000319135	0	0
TRRAP	8295	broad.mit.edu	37	7	98559084	98559084	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:98559084C>T	ENST00000359863.4	+	45	6878	c.6669C>T	c.(6667-6669)ttC>ttT	p.F2223F	TRRAP_ENST00000446306.3_Silent_p.F2204F|TRRAP_ENST00000355540.3_Silent_p.F2205F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2223	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGCATTTTCCCAACAGAGC	0.547000													26	41					0	0	9.22233e-05	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312870	153312870	+	Missense_Mutation	SNP	C	C	T	rs148847664		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:153312870C>T	ENST00000368739.3	-	7	1157	c.799G>A	c.(799-801)Gac>Aac	p.D267N	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D271N			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	271					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.D271N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAACCAATGTCGCATGACTTG	0.502000													13	53					0	0	0.000422831	0	0
ME2	4200	broad.mit.edu	37	18	48447032	48447032	+	Splice_Site	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:48447032G>T	ENST00000321341.5	+	9	1118	c.844_splice	c.e9-1	p.G282_splice	ME2_ENST00000382927.3_Splice_Site_p.G282_splice	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	282					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTCTTACAGGGACAGCTGCAG	0.348000													18	58					9.16793e-09	1.86598e-07	0.000566183	1	0
CATSPER2	117155	broad.mit.edu	37	15	43928403	43928403	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:43928403G>A	ENST00000396879.1	-	9	969	c.857C>T	c.(856-858)tCc>tTc	p.S286F	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.S286F|CATSPER2_ENST00000381761.1_Missense_Mutation_p.S292F|CATSPER2_ENST00000355438.2_Missense_Mutation_p.S286F|CATSPER2_ENST00000321596.5_Missense_Mutation_p.S286F			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	286					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		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)		TGTTACCAGGGAATTCGGGAG	0.423000													13	53					0	0	9.7654e-05	0	0
NLRP14	338323	broad.mit.edu	37	11	7064319	7064319	+	Silent	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:7064319T>C	ENST00000299481.4	+	4	1408	c.1062T>C	c.(1060-1062)agT>agC	p.S354S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	354	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGTATTCAGTTCACTAAAAA	0.443000													18	81					0	0	9.7654e-05	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813599	24813599	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:24813599C>T	ENST00000376451.2	+	8	2113	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	KIAA1217_ENST00000396446.1_Missense_Mutation_p.S618F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S855F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S900F|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S618F|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S935F|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S900F|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S618F			Q5T5P2	SKT_HUMAN	KIAA1217	935					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTCCGCAGTCCCCACAGATA	0.577000													5	34					0	0	3.59834e-05	0	0
ACTN2	88	broad.mit.edu	37	1	236912437	236912437	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:236912437T>C	ENST00000366578.4	+	14	1695	c.1529T>C	c.(1528-1530)tTg>tCg	p.L510S	ACTN2_ENST00000546208.1_Missense_Mutation_p.L4S|ACTN2_ENST00000542672.1_Missense_Mutation_p.L510S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	510					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATGGAGAAATTGCTAGAAACC	0.398000													11	42					0	0	0.000151284	0	0
SEC24D	9871	broad.mit.edu	37	4	119736203	119736203	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:119736203G>A	ENST00000379735.5	-	6	1055	c.784C>T	c.(784-786)Cct>Tct	p.P262S	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P261S	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	261	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATAGAGTCAGGATCCAGCTTC	0.522000													30	60					0	0	0.000437636	0	0
ATAD5	79915	broad.mit.edu	37	17	29220966	29220966	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:29220966G>A	ENST00000321990.4	+	21	5473	c.5095G>A	c.(5095-5097)Gga>Aga	p.G1699R		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1699					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAGTAATGATGGATGGACTTC	0.378000													35	71					0	0	0.000191422	0	0
PALM2	114299	broad.mit.edu	37	9	112686019	112686019	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:112686019G>A	ENST00000448454.2	+	5	268	c.268G>A	c.(268-270)Gag>Aag	p.E90K	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E88K|PALM2_ENST00000374531.2_Missense_Mutation_p.E90K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E88K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E88K|PALM2_ENST00000483909.1_Missense_Mutation_p.E88K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E88K|PALM2_ENST00000314527.4_Missense_Mutation_p.E88K					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						TTCCAGGCTGGAGCAAGAAAT	0.443000													5	4					0	0	3.59834e-05	0	0
USP17L2	377630	broad.mit.edu	37	8	11994741	11994741	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:11994741C>T	ENST00000333796.3	-	1	1845	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	510					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCTGGTCCTCCCTTGCAGAGA	0.552000													12	57					0	0	0.00010058	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)			58	110					0	0	0.000147903	0	0
PSG9	5678	broad.mit.edu	37	19	43763094	43763094	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:43763094C>T	ENST00000418820.2	-	3	722	c.624G>A	c.(622-624)acG>acA	p.T208T	PSG9_ENST00000270077.3_Silent_p.T301T|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Silent_p.T208T|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	208	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTTCATTTCTCGTGACACTGG	0.488000													35	134					0	0	0.000374591	0	0
NEDD4	4734	broad.mit.edu	37	15	56155176	56155176	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:56155176G>A	ENST00000508342.1	-	5	2165	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	NEDD4_ENST00000435532.3_Silent_p.I203I|NEDD4_ENST00000338963.2_Silent_p.I550I|NEDD4_ENST00000506154.1_Silent_p.I606I			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	622	Mediates interaction with TNIK (By similarity).|WW 1.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCCTTCCAAGGATATCCTGCC	0.463000													25	87					0	0	9.22233e-05	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136799	55136799	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:55136799G>A	ENST00000257290.5	+	8	1452		c.e8-1		FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide						cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTTTTTAAAAGGTATCGAAGC	0.308000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			18	78					0	0	9.7654e-05	0	0
KCNK3	3777	broad.mit.edu	37	2	26950541	26950541	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:26950541G>A	ENST00000302909.3	+	2	415	c.290G>A	c.(289-291)gGg>gAg	p.G97E		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	97					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGCTACGGGCACGCGGCA	0.627000													39	168					0	0	0.000147903	0	0
MATR3	9782	broad.mit.edu	37	5	138658193	138658193	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:138658193C>T	ENST00000394800.2	+	15	2325	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	MATR3_ENST00000502499.1_Silent_p.S254S|MATR3_ENST00000361059.2_Silent_p.S592S|MATR3_ENST00000510056.1_Silent_p.S592S|MATR3_ENST00000502929.1_Silent_p.S592S|MATR3_ENST00000503811.1_Silent_p.S304S|MATR3_ENST00000504203.1_Silent_p.S254S|MATR3_ENST00000509990.1_Silent_p.S592S|MATR3_ENST00000394805.3_Silent_p.S592S			P43243	MATR3_HUMAN	matrin 3	592						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGATAAATCCCGGTAATTTC	0.299000													8	23					0	0	0.000274275	0	0
MRPL54	116541	broad.mit.edu	37	19	3762778	3762778	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:3762778C>T	ENST00000330133.4	+	1	117	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	27						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCCACTTCCGGAAGACTC	0.622000													16	50					0	0	0.000175454	0	0
RNF112	7732	broad.mit.edu	37	17	19315892	19315892	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:19315892C>T	ENST00000461366.1	+	3	392	c.177C>T	c.(175-177)atC>atT	p.I59I	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	59							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTGCTCCATCTGCCTGGAGA	0.657000													7	13					0	0	0.000157383	0	0
PPFIA2	8499	broad.mit.edu	37	12	81693152	81693152	+	Silent	SNP	A	A	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:81693152A>C	ENST00000550584.2	-	22	2947	c.2652T>G	c.(2650-2652)ctT>ctG	p.L884L	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Silent_p.L884L|PPFIA2_ENST00000541017.1_Silent_p.L101L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Silent_p.L785L|PPFIA2_ENST00000333447.7_Silent_p.L869L|PPFIA2_ENST00000552948.1_Silent_p.L884L|PPFIA2_ENST00000407050.4_Silent_p.L810L|PPFIA2_ENST00000549325.1_Silent_p.L869L|PPFIA2_ENST00000549396.1_Silent_p.L884L|PPFIA2_ENST00000550359.2_Silent_p.L731L|PPFIA2_ENST00000541570.2_Silent_p.L451L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	810										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTCTTCAAGAAGTTCATGCC	0.388000													3	8					0	0	0.00024832	0	0
SLC7A2	6542	broad.mit.edu	37	8	17412158	17412158	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:17412158C>T	ENST00000494857.1	+	8	1363	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	SLC7A2_ENST00000004531.10_Missense_Mutation_p.S422F|SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S382F	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	382					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAAATCAATTCCAAAACGAAG	0.413000													36	112					0	0	0.000191422	0	0
ZNF883	169834	broad.mit.edu	37	9	115760080	115760080	+	RNA	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:115760080C>T	ENST00000427548.1	-	0	1733							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCAGTACATTCATATGGTTTC	0.403000													20	32					0	0	9.7654e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:168105217G>A	ENST00000409195.1	+	9	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(1)		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						TAATAAGAACGATTTTTCCCC	0.408000													44	128					0	0	0.000147903	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925428	114925428	+	Silent	SNP	C	C	T	rs61724286		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:114925428C>T	ENST00000355995.4	+	15	2064	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	TCF7L2_ENST00000542695.1_Silent_p.S235S|TCF7L2_ENST00000536810.1_Silent_p.S502S|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.S502S|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.S496S|TCF7L2_ENST00000545257.1_Silent_p.S519S|TCF7L2_ENST00000466338.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	519					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGCTAGGCTCCCCTCCCCGAG	0.632000			T	VTI1A	colorectal								45	180					0	0	0.000147903	0	0
ABCA13	154664	broad.mit.edu	37	7	48315712	48315712	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:48315712C>T	ENST00000435803.1	+	17	6473	c.6449C>T	c.(6448-6450)aCc>aTc	p.T2150I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2150					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTCCTGTGACCAATGAGAGT	0.333000													7	14					0	0	8.12818e-05	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:55798785G>A	ENST00000313555.1	+	1	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000													16	54					0	0	0.000308642	0	0
SPEG	10290	broad.mit.edu	37	2	220337666	220337666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:220337666G>A	ENST00000312358.7	+	16	4127	c.3995G>A	c.(3994-3996)tGg>tAg	p.W1332*	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1332	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCGGACCAGTGGACGGCACTG	0.647000													17	13					0	0	7.07596e-05	0	0
POU1F1	5449	broad.mit.edu	37	3	87322529	87322529	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:87322529C>T	ENST00000350375.2	-	2	306	c.182G>A	c.(181-183)gGa>gAa	p.G61E	POU1F1_ENST00000344265.3_Missense_Mutation_p.G87E|POU1F1_ENST00000560656.1_Missense_Mutation_p.G61E	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	61					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TGGCTGGTTTCCATAATGACA	0.408000													10	40					0	0	0.00010058	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:22133973G>A	ENST00000408935.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000													18	49					0	0	0.000229342	0	0
WDR12	55759	broad.mit.edu	37	2	203762100	203762100	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:203762100C>A	ENST00000261015.3	-	5	1126	c.377G>T	c.(376-378)tGg>tTg	p.W126L		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	126	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTCCAAGGACCAGATCCGAGA	0.378000													15	602					9.7654e-05	0.00195251	9.7654e-05	1	0
FAM135B	51059	broad.mit.edu	37	8	139164357	139164357	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:139164357G>T	ENST00000395297.1	-	13	2531	c.2361C>A	c.(2359-2361)gaC>gaA	p.D787E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTGCTTGGTGTCCGCATCTT	0.517000										HNSCC(54;0.14)			7	31					1.12685e-05	0.00022731	0.000274275	1	0
NLRP5	126206	broad.mit.edu	37	19	56539572	56539572	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:56539572C>T	ENST00000390649.3	+	7	1973	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCCCGTTCCCCTGGGGGTG	0.587000													19	49					0	0	0.000132079	0	0
GPC5	2262	broad.mit.edu	37	13	92408650	92408650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:92408650G>A	ENST00000377067.3	+	5	1628	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	419						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTTCCCTGCTGGAATGGAGAA	0.388000													19	60					0	0	0.000295444	0	0
PARD3B	117583	broad.mit.edu	37	2	205986545	205986545	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:205986545C>T	ENST00000406610.2	+	8	1244	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	PARD3B_ENST00000349953.3_Missense_Mutation_p.S346F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S346F|PARD3B_ENST00000351153.1_Missense_Mutation_p.S346F|PARD3B_ENST00000358768.2_Missense_Mutation_p.S346F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	346					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCATCAGCTTCCCTGCAACAA	0.488000													11	38					0	0	3.86212e-05	0	0
SCN3A	6328	broad.mit.edu	37	2	165946963	165946963	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:165946963C>T	ENST00000360093.3	-	28	6191	c.5700G>A	c.(5698-5700)gaG>gaA	p.E1900E	SCN3A_ENST00000540861.1_Silent_p.E383E|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Silent_p.E1851E|SCN3A_ENST00000283254.7_Silent_p.E1900E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1900	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAGACACCTCCTCTTGTTTAC	0.373000													20	55					0	0	0.000117367	0	0
SLC1A6	6511	broad.mit.edu	37	19	15075164	15075164	+	Silent	SNP	A	A	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:15075164A>G	ENST00000598504.1	-	7	1917	c.558T>C	c.(556-558)ttT>ttC	p.F186F	SLC1A6_ENST00000221742.3_Silent_p.F186F|SLC1A6_ENST00000600144.1_Silent_p.F186F|SLC1A6_ENST00000544886.2_Silent_p.F186F|SLC1A6_ENST00000430939.2_Silent_p.F122F	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	186					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGTTTGGTGGAAACATATTTC	0.463000													69	189					0	0	0.000147903	0	0
ANKRD22	118932	broad.mit.edu	37	10	90583082	90583082	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:90583082G>A	ENST00000371930.4	-	5	663	c.453C>T	c.(451-453)atC>atT	p.I151I	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	151										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		AGAGCAGAGGGATAAGAGACT	0.488000													46	112					0	0	0.000147903	0	0
APOH	350	broad.mit.edu	37	17	64225468	64225468	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:64225468C>T	ENST00000205948.6	-	1	67	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	10					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AGAGAAAACTCGAGAACAAGA	0.398000													4	15					0	0	0.000602214	0	0
ALPK2	115701	broad.mit.edu	37	18	56203356	56203356	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:56203356C>T	ENST00000361673.3	-	5	4276	c.4063G>A	c.(4063-4065)Gat>Aat	p.D1355N	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1355							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						GACAGTGAATCTGTGACAGAT	0.473000													14	48					0	0	0.000308642	0	0
SHPK	23729	broad.mit.edu	37	17	3539424	3539424	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:3539424G>A	ENST00000225519.3	-	1	192	c.90C>T	c.(88-90)tcC>tcT	p.S30S		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	30					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CTGCGAACCCGGATGGGTCGT	0.716000													5	17					0	0	0.000602214	0	0
POTEC	388468	broad.mit.edu	37	18	14533112	14533112	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:14533112C>T	ENST00000358970.5	-	5	1002	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	335										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCAGATAGATCTTGAGAAGAT	0.373000													43	134					0	0	0.000147903	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413031	105413031	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:105413031C>T	ENST00000333244.5	-	7	8876	c.8757G>A	c.(8755-8757)aaG>aaA	p.K2919K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2919						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)			GCTTGGGGCCCTTGACGTCTA	0.652000													58	164					0	0	0.000147903	0	0
SZT2	23334	broad.mit.edu	37	1	43896717	43896717	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:43896717C>T	ENST00000562955.1	+	32	4701	c.4701C>T	c.(4699-4701)ccC>ccT	p.P1567P	SZT2_ENST00000372442.1_Silent_p.P725P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1624						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGACTTTGCCCCTGGAAGTGG	0.617000													5	40					0	0	0.000602214	0	0
IVL	3713	broad.mit.edu	37	1	152882398	152882398	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152882398C>T	ENST00000368764.3	+	2	189	c.125C>T	c.(124-126)cCc>cTc	p.P42L	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	42					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTGCCTCCCCCATGCCAG	0.552000													16	36					0	0	0.000422831	0	0
CCDC33	80125	broad.mit.edu	37	15	74625065	74625065	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:74625065G>A	ENST00000321288.5	+	18	2426	c.2426G>A	c.(2425-2427)gGa>gAa	p.G809E	CCDC33_ENST00000558821.1_Missense_Mutation_p.G199E|CCDC33_ENST00000398814.3_Missense_Mutation_p.G606E|CCDC33_ENST00000268082.4_Missense_Mutation_p.G199E			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	809							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGTTCTATGGGAGAGAACCTG	0.582000													38	97					0	0	0.000147903	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457323	110457323	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:110457323C>T	ENST00000378402.5	+	38	5329	c.5225C>T	c.(5224-5226)tCa>tTa	p.S1742L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1742	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TGCACCTTTTCATACTTAGAA	0.448000										HNSCC(38;0.096)			30	89					0	0	0.000227799	0	0
SYT16	83851	broad.mit.edu	37	14	62567122	62567122	+	Silent	SNP	A	A	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:62567122A>G	ENST00000430451.2	+	6	1832	c.1635A>G	c.(1633-1635)ggA>ggG	p.G545G		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	545	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATACATATGGAAAACTCTTTC	0.433000													4	12					0	0	0.000602214	0	0
PAH	5053	broad.mit.edu	37	12	103310870	103310870	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:103310870C>T	ENST00000553106.1	-	1	511	c.39G>A	c.(37-39)agG>agA	p.R13R	PAH_ENST00000307000.2_5'UTR|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	13					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAGAGAGTTTCCTGCCCAAGC	0.572000													8	51					0	0	3.86212e-05	0	0
MKI67	4288	broad.mit.edu	37	10	129901698	129901698	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:129901698G>A	ENST00000368654.3	-	13	8781	c.8406C>T	c.(8404-8406)ggC>ggT	p.G2802G	MKI67_ENST00000368653.3_Silent_p.G2442G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2802	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTCTTTGAAGCCAGCTAGGT	0.507000													19	54					0	0	7.07596e-05	0	0
DNAH9	1770	broad.mit.edu	37	17	11726147	11726147	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:11726147C>T	ENST00000262442.3	+	48	9110	c.9042C>T	c.(9040-9042)ttC>ttT	p.F3014F	DNAH9_ENST00000454412.2_Silent_p.F3014F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3014	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAGCAAATTCATGGCCTTTG	0.433000													25	75					0	0	9.22233e-05	0	0
FAM129A	116496	broad.mit.edu	37	1	184801002	184801002	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:184801002C>T	ENST00000367511.3	-	6	889	c.696G>A	c.(694-696)atG>atA	p.M232I	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	232					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCCCAGTGATCATTTCCCAGG	0.408000													20	76					0	0	0.000175454	0	0
PGS1	9489	broad.mit.edu	37	17	76396844	76396844	+	Missense_Mutation	SNP	C	C	T	rs79039614		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:76396844C>T	ENST00000262764.6	+	6	814	c.788C>T	c.(787-789)aCg>aTg	p.T263M	PGS1_ENST00000329897.7_Missense_Mutation_p.T128M|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	263					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GACTTCTTCACGGAGCTGGTG	0.607000													26	46					0	0	0.000184323	0	0
C1orf173	127254	broad.mit.edu	37	1	75101970	75101970	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:75101970G>A	ENST00000326665.5	-	6	815	c.597C>T	c.(595-597)ccC>ccT	p.P199P		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	199										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTACCCCAATGGGAAACAGAG	0.323000													26	72					0	0	0.00047179	0	0
AQP9	366	broad.mit.edu	37	15	58465319	58465319	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:58465319G>A	ENST00000219919.4	+	3	661	c.291G>A	c.(289-291)atG>atA	p.M97I	AQP9_ENST00000536493.1_Missense_Mutation_p.M97I|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.M32I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	97					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTGGACGGATGAAATGGTTCA	0.478000													65	196					0	0	0.000147903	0	0
AQP9	366	broad.mit.edu	37	15	58430858	58430858	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:58430858G>A	ENST00000219919.4	+	1	464	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	AQP9_ENST00000536493.1_Missense_Mutation_p.G32S|AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000558772.1_Intron|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	32					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGAGTTCTTGGGCACGTTCAT	0.473000													25	80					0	0	0.000339439	0	0
PSEN1	5663	broad.mit.edu	37	14	73653628	73653628	+	Splice_Site	SNP	G	G	T	rs63751068		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:73653628G>T	ENST00000324501.5	+	6	820	c.548_splice	c.e6+1	p.G183_splice	PSEN1_ENST00000357710.4_Splice_Site_p.G179_splice|PSEN1_ENST00000344094.3_Splice_Site_p.G183_splice|PSEN1_ENST00000406768.1_Splice_Site_p.G91_splice|PSEN1_ENST00000394164.1_Splice_Site_p.G179_splice|PSEN1_ENST00000557511.1_Splice_Site_p.G183_splice|PSEN1_ENST00000261970.3_Splice_Site_p.G183_splice	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	183					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATTTACTTGGGGTAAGTTGTG	0.323000													7	103					0.000274275	0.00543593	0.000274275	1	0
KIAA1524	57650	broad.mit.edu	37	3	108281983	108281983	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:108281983G>A	ENST00000295746.8	-	13	1700	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.P383S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	542						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTAAAGCAGGAAAATCTGGC	0.393000													36	97					0	0	0.000132358	0	0
CHD1L	9557	broad.mit.edu	37	1	146740470	146740470	+	Missense_Mutation	SNP	G	G	T	rs140168816		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:146740470G>T	ENST00000369258.4	+	10	1038	c.1018G>T	c.(1018-1020)Gac>Tac	p.D340Y	CHD1L_ENST00000361293.5_Missense_Mutation_p.D59Y|CHD1L_ENST00000369259.3_Missense_Mutation_p.D136Y|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	340					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGAAGTTGGAGACCACCTGAC	0.517000													17	56					7.87624e-14	1.62744e-12	0.000375601	1	0
PEAK1	79834	broad.mit.edu	37	15	77407410	77407410	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:77407410G>A	ENST00000560626.2	-	7	4804	c.4329C>T	c.(4327-4329)tcC>tcT	p.S1443S	PEAK1_ENST00000312493.4_Silent_p.S1443S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1443	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCTCTTTCTGGGATGATGCTG	0.498000													33	80					0	0	0.000191422	0	0
DSP	1832	broad.mit.edu	37	6	7584611	7584611	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:7584611C>T	ENST00000379802.3	+	24	7457	c.7116C>T	c.(7114-7116)atC>atT	p.I2372I	DSP_ENST00000418664.2_Silent_p.I1773I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2372	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGCACAGATCGCAACCGGGG	0.438000													29	51					0	0	0.00058488	0	0
TARBP1	6894	broad.mit.edu	37	1	234541779	234541779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:234541779G>A	ENST00000040877.1	-	24	3858	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1287					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCATACAGTCGAACACTAAAA	0.383000													27	72					0	0	0.000279167	0	0
ELMO2	63916	broad.mit.edu	37	20	45017738	45017738	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:45017738T>C	ENST00000372176.1	-	7	569	c.101A>G	c.(100-102)aAc>aGc	p.N34S	ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.N122S|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.N122S|ELMO2_ENST00000439931.2_Missense_Mutation_p.N122S|ELMO2_ENST00000290246.6_Missense_Mutation_p.N122S			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	122					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCCATCCATGTTGATGAACTC	0.527000													13	35					0	0	0.00010058	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045122	204045122	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:204045122G>T	ENST00000449802.1	+	42	6728	c.6395G>T	c.(6394-6396)cGa>cTa	p.R2132L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2132	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTGCAGATCGACAGTTCCAT	0.343000													8	483					3.86212e-05	0.000774475	3.86212e-05	1	0
DENND2A	27147	broad.mit.edu	37	7	140221655	140221655	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:140221655C>T	ENST00000275884.6	-	17	3328	c.2911_splice	c.e17+1	p.G971_splice	DENND2A_ENST00000496613.1_Splice_Site_p.G971_splice|DENND2A_ENST00000537639.1_Splice_Site_p.G971_splice			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	971										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGCCCCTCACCTTTGGCATCC	0.597000													20	58					0	0	0.000375601	0	0
ZNF831	128611	broad.mit.edu	37	20	57766946	57766946	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:57766946C>T	ENST00000371030.2	+	1	872	c.872C>T	c.(871-873)cCa>cTa	p.P291L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	291						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGGGCTCCCAGCGGCCAGC	0.677000													14	56					0	0	0.000308642	0	0
PRR15L	79170	broad.mit.edu	37	17	46030312	46030312	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:46030312C>T	ENST00000300557.2	-	2	539	c.289G>A	c.(289-291)Gag>Aag	p.E97K	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	97										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						CGTCCTTCCTCGTGATCATCA	0.557000													17	52					0	0	0.000175454	0	0
ANO4	121601	broad.mit.edu	37	12	101505378	101505378	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:101505378C>T	ENST00000392979.3	+	23	2596	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	ANO4_ENST00000392977.3_Silent_p.L780L|ANO4_ENST00000299222.9_Silent_p.L300L|ANO4_ENST00000550015.1_Silent_p.L300L	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	780						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGGAATTCTCTCTGTTATCA	0.368000										HNSCC(74;0.22)			21	51					0	0	0.000295444	0	0
NXF3	56000	broad.mit.edu	37	X	102338384	102338384	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:102338384C>T	ENST00000395065.3	-	5	583	c.482G>A	c.(481-483)aGc>aAc	p.S161N	NXF3_ENST00000425463.2_Missense_Mutation_p.S72N|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	161	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATAGGCGATGCTGGCATTCTC	0.448000													21	24					0	0	0.000586117	0	0
ASXL3	80816	broad.mit.edu	37	18	31323374	31323374	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:31323374C>T	ENST00000269197.5	+	12	3562	c.3562C>T	c.(3562-3564)Cca>Tca	p.P1188S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTCTCTTAACCCAAGTAAACT	0.428000													8	26					0	0	0.000274275	0	0
MPP7	143098	broad.mit.edu	37	10	28414002	28414002	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:28414002C>T	ENST00000337532.5	-	8	742	c.466G>A	c.(466-468)Gat>Aat	p.D156N	MPP7_ENST00000445954.2_Missense_Mutation_p.D31N|MPP7_ENST00000540098.1_Missense_Mutation_p.D156N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375732.1_Missense_Mutation_p.D156N|MPP7_ENST00000375719.3_Missense_Mutation_p.D156N	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	156	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCTGTTCATCCTTCTTAATG	0.403000													13	54					0	0	0.000422831	0	0
GALNT13	114805	broad.mit.edu	37	2	155157940	155157940	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:155157940T>A	ENST00000392825.3	+	9	1561	c.994T>A	c.(994-996)Tcc>Acc	p.S332T	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.S332T	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	332	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGTGGAGGCTCCTTGGAGAT	0.408000													41	173					0	0	0.000147903	0	0
P2RY2	5029	broad.mit.edu	37	11	72945289	72945289	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:72945289G>A	ENST00000311131.2	+	3	552	c.85G>A	c.(85-87)Gag>Aag	p.E29K	P2RY2_ENST00000393596.2_Missense_Mutation_p.E29K|P2RY2_ENST00000393597.2_Missense_Mutation_p.E29K	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	29					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGCTTCAACGAGGACTTCAA	0.622000													22	104					0	0	0.000175454	0	0
POLD1	5424	broad.mit.edu	37	19	50912866	50912866	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:50912866C>T	ENST00000440232.2	+	17	2150	c.2097C>T	c.(2095-2097)tcC>tcT	p.S699S	POLD1_ENST00000599857.1_Silent_p.S699S|POLD1_ENST00000595904.1_Silent_p.S725S	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	699					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCAACTCCGTATACGGCT	0.687000								DNA polymerases (catalytic subunits)					29	76					0	0	0.000339439	0	0
CDH9	1007	broad.mit.edu	37	5	26915795	26915795	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:26915795C>T	ENST00000231021.4	-	3	638	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	156	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATTTTGGCTCATTGTCATTG	0.373000													36	84					0	0	0.000191422	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39448129	39448129	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:39448129C>T	ENST00000308521.5	+	6	1131	c.774C>T	c.(772-774)ttC>ttT	p.F258F	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	266					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TCTCTTGGTTCTGTGACGACA	0.572000													41	102					0	0	0.000147903	0	0
FBXO38	81545	broad.mit.edu	37	5	147796734	147796734	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:147796734C>T	ENST00000340253.5	+	12	1753	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	FBXO38_ENST00000296701.6_Silent_p.L529L|FBXO38_ENST00000513826.1_Silent_p.L529L|FBXO38_ENST00000394370.3_Silent_p.L529L			Q6PIJ6	FBX38_HUMAN	F-box protein 38	529						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGCAAGATCTGCAGCCAGG	0.428000													9	23					0	0	6.40141e-05	0	0
OR4D1	26689	broad.mit.edu	37	17	56232592	56232592	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:56232592C>T	ENST00000268912.5	+	1	99	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCAGAAATTCCTGTTCCTTC	0.478000													40	119					0	0	0.000319135	0	0
PROSER1	80209	broad.mit.edu	37	13	39587605	39587605	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:39587605G>A	ENST00000352251.3	-	11	2617	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S573L	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	595	Ser-rich.																AGGGGTAGATGAAATATGCAG	0.542000													40	110					0	0	0.000589545	0	0
ZAK	51776	broad.mit.edu	37	2	174131075	174131075	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:174131075C>T	ENST00000375213.3	+	20	2078	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S667F|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					ACTGACACCTCTTCAGAGAGG	0.453000													26	63					0	0	0.000117367	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472523	69472523	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:69472523C>T	ENST00000303714.4	+	18	1923	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	534	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cctcccatcccgtccccacct	0.711000									Familial Infantile Hemangioma				9	3					0	0	0.000274275	0	0
SLC12A5	57468	broad.mit.edu	37	20	44674583	44674583	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:44674583G>A	ENST00000454036.1	+	13	1781	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E546K|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	569					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCATCTGCGAGATTGGCAT	0.592000													34	114					0	0	0.000228196	0	0
CBLB	868	broad.mit.edu	37	3	105421149	105421149	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:105421149G>A	ENST00000264122.4	-	12	2069	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	CBLB_ENST00000394027.3_Missense_Mutation_p.S605F|CBLB_ENST00000405772.1_Missense_Mutation_p.S583F|CBLB_ENST00000403724.1_Missense_Mutation_p.S583F	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	583	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CGGGTCTCTGGAAGGCACGCT	0.542000			Mis S		AML								9	39					0	0	0.000274275	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621391	7621391	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:7621391C>T	ENST00000221249.6	+	28	3463	c.3032C>T	c.(3031-3033)tCc>tTc	p.S1011F	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1049F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1059F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S984F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1011F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1050	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAGTCACCTCCATGTTCACT	0.567000													52	87					0	0	0.000147903	0	0
DDX52	11056	broad.mit.edu	37	17	35986129	35986129	+	Silent	SNP	T	T	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:35986129T>A	ENST00000349699.2	-	8	991	c.948A>T	c.(946-948)gtA>gtT	p.V316V	DDX52_ENST00000394367.3_Silent_p.V208V	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	316	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATTCGTCTACTACAAGCCACT	0.448000													5	19					0	0	0.000602214	0	0
BCAS3	54828	broad.mit.edu	37	17	58786684	58786684	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:58786684C>T	ENST00000589222.1	+	5	387	c.319C>T	c.(319-321)Cct>Tct	p.P107S	BCAS3_ENST00000407086.3_Missense_Mutation_p.P107S|BCAS3_ENST00000588462.1_Missense_Mutation_p.P107S|BCAS3_ENST00000390652.5_Missense_Mutation_p.P107S|BCAS3_ENST00000408905.3_Missense_Mutation_p.P107S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	107						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGGAGCATCCCTGTAAGTAC	0.378000													15	20					0	0	0.000566183	0	0
CSMD2	114784	broad.mit.edu	37	1	34008417	34008417	+	Silent	SNP	G	G	A	rs138523089	byFrequency	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:34008417G>A	ENST00000373381.4	-	58	9356	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3034	Sushi 23.					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)				ACTCATAGACGATAGAGCTGG	0.542000													13	34					0	0	0.00010058	0	0
F7	2155	broad.mit.edu	37	13	113773099	113773099	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:113773099C>T	ENST00000375581.3	+	9	1213	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	F7_ENST00000346342.3_Missense_Mutation_p.S371L|F7_ENST00000541084.1_Missense_Mutation_p.S324L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	393	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCCGGCTACTCGGATGGCAGC	0.632000													8	20					0	0	0.000157383	0	0
SV2B	9899	broad.mit.edu	37	15	91835624	91835624	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:91835624G>A	ENST00000394232.1	+	13	2364	c.1894G>A	c.(1894-1896)Gga>Aga	p.G632R	SV2B_ENST00000545111.2_Missense_Mutation_p.G481R|SV2B_ENST00000330276.4_Missense_Mutation_p.G632R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	632					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CATTCTCAATGGATTATGCAA	0.448000													113	338					0	0	0.000147903	0	0
OR51A4	401666	broad.mit.edu	37	11	4967488	4967488	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:4967488G>A	ENST00000380373.2	-	1	868	c.843C>T	c.(841-843)ctC>ctT	p.L281L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACAAGTAGGAGAACATTTG	0.438000													23	139					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179581852	179581852	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179581852C>T	ENST00000589042.1	-	88	25833	c.25609G>A	c.(25609-25611)Gac>Aac	p.D8537N	TTN_ENST00000342992.6_Missense_Mutation_p.D7293N|TTN_ENST00000591111.1_Missense_Mutation_p.D8220N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8220	Ig-like 68.						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)			GAACAAGAGTCTTTTCCAGCG	0.448000													13	33					0	0	0.000219431	0	0
TCEAL7	56849	broad.mit.edu	37	X	102586467	102586467	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:102586467G>A	ENST00000332431.4	+	3	390	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	TCEAL7_ENST00000372666.1_Missense_Mutation_p.E46K	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	46					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2						tcagtctctcgaagaatttaa	0.438000													16	25					0	0	0.000308642	0	0
ZNF800	168850	broad.mit.edu	37	7	127017364	127017364	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:127017364A>T	ENST00000393313.1	-	4	768	c.177T>A	c.(175-177)caT>caA	p.H59Q	ZNF800_ENST00000265827.3_Missense_Mutation_p.H59Q|ZNF800_ENST00000393312.1_Missense_Mutation_p.H59Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTAATAAAATATGCTTAAGTT	0.313000													5	45					0	0	3.59834e-05	0	0
FLT1	2321	broad.mit.edu	37	13	28980009	28980009	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:28980009C>T	ENST00000282397.4	-	11	1710	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	FLT1_ENST00000539099.1_Missense_Mutation_p.E487K|FLT1_ENST00000541932.1_Missense_Mutation_p.E487K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	487	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.E487K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AAGGACTCTTCATTATTGGAA	0.388000													19	71					0	0	9.7654e-05	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928267	21928267	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:21928267T>C	ENST00000542643.2	-	22	1942	c.1640A>G	c.(1639-1641)aAg>aGg	p.K547R	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.K606R|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.K585R|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.K552R|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.K521R	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	521					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTCTGGGGTCTTCTGACCAGC	0.667000													8	23					0	0	0.000274275	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40282489	40282489	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:40282489G>A	ENST00000263791.5	+	16	2585	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D820N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	848	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|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)		GATTCACCGGGATTTGAAGCC	0.378000													43	141					0	0	0.000147903	0	0
KCNK10	54207	broad.mit.edu	37	14	88652268	88652268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:88652268C>T	ENST00000340700.5	-	7	1679	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	KCNK10_ENST00000319231.5_Missense_Mutation_p.A415T|KCNK10_ENST00000312350.5_Missense_Mutation_p.A415T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	410					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGGATGAGGCCTTGAAGCGG	0.662000													16	48					0	0	0.000132079	0	0
HSF1	3297	broad.mit.edu	37	8	145535747	145535747	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:145535747C>T	ENST00000528838.1	+	9	1119	c.959C>T	c.(958-960)tCc>tTc	p.S320F	HSF1_ENST00000400780.4_Missense_Mutation_p.S255F	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	320						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CGCCCATCTTCCGTGGACACC	0.706000													14	44					0	0	0.000219431	0	0
VIL1	7429	broad.mit.edu	37	2	219289022	219289022	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:219289022C>T	ENST00000248444.5	+	3	186	c.98C>T	c.(97-99)cCt>cTt	p.P33L	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.P33L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	33	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCCTGTTCCTTCCAGCACC	0.612000													34	90					0	0	0.000437636	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074961	34074961	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:34074961G>A	ENST00000254466.6	-	4	766	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	GAS2L2_ENST00000587565.1_Missense_Mutation_p.L231F	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	247	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGTTCCGGAGGATCTGAGGG	0.632000											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	23					0	0	8.12818e-05	0	0
SLC1A5	6510	broad.mit.edu	37	19	47285682	47285682	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:47285682G>A	ENST00000542575.2	-	4	1410	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SLC1A5_ENST00000594991.1_Missense_Mutation_p.S85F|SLC1A5_ENST00000412532.2_Missense_Mutation_p.S33F|SLC1A5_ENST00000434726.2_Missense_Mutation_p.S59F	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	261					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTCATTGAAGGAGTTGAAGAA	0.597000													17	48					0	0	0.000375601	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	C	T	rs147405090		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:98509802C>T	ENST00000359863.4	+	18	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_ENST00000446306.3_Missense_Mutation_p.S721F|TRRAP_ENST00000355540.3_Missense_Mutation_p.S722F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(10)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000													28	49					0	0	0.000132358	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054985	4054985	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:4054985G>A	ENST00000322357.4	-	2	524	c.246C>T	c.(244-246)gcC>gcT	p.A82A	ZBTB7A_ENST00000601588.1_Silent_p.A82A	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	82	BTB.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCGCCTCGGCGCTGACGA	0.657000													6	11					0	0	3.59834e-05	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2396587	2396587	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:2396587G>A	ENST00000332578.3	+	2	193	c.193G>A	c.(193-195)Gga>Aga	p.G65R	TMPRSS9_ENST00000592650.1_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	65					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CGAGCTGCGGGGAATCCGGTG	0.667000													6	9					0	0	0.000157383	0	0
ZNF777	27153	broad.mit.edu	37	7	149129502	149129502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:149129502G>A	ENST00000247930.4	-	6	2184	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGTGACTTGGGACGCGGCTTG	0.667000													33	100					0	0	0.000270559	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49363627	49363627	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:49363627G>A	ENST00000263265.6	-	6	1011	c.456C>T	c.(454-456)tcC>tcT	p.S152S	PLEKHA4_ENST00000355496.5_Silent_p.S152S	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	152	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCCGCACGGGAGGCCCGGC	0.657000													15	77					0	0	0.000566183	0	0
VPS13D	55187	broad.mit.edu	37	1	12374213	12374213	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:12374213C>T	ENST00000358136.3	+	30	7107	c.6977C>T	c.(6976-6978)tCc>tTc	p.S2326F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2326F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2326					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAAGTTTTTCCAACCAAACC	0.403000													10	45					0	0	6.40141e-05	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490538	173490538	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:173490538C>T	ENST00000367714.3	-	22	3063	c.2640_splice	c.e22-1	p.E881_splice	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	881					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTGGCTCTTTCCTGAGTGGGA	0.318000													9	40					0	0	0.000442599	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598336	58598336	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:58598336C>T	ENST00000240727.6	-	5	1081	c.682G>A	c.(682-684)Gag>Aag	p.E228K	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E93K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E284K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E228K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	228					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGCCCCACTCCCCCAGGTGC	0.642000													11	33					0	0	3.86212e-05	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754765	94754765	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:94754765G>A	ENST00000554723.1	-	3	1388	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	SERPINA10_ENST00000261994.4_Missense_Mutation_p.R284C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R284C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R284C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R284C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACATGACAACGAAAATTCTTG	0.507000													16	45					0	0	0.000308642	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296076	233296076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:233296076G>A	ENST00000258229.8	-	19	3704	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	PCNXL2_ENST00000488780.2_Missense_Mutation_p.S290L|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1157						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AATGGGGTGTGAAATCCACAT	0.443000													15	42					0	0	0.000422831	0	0
TRBV28	28559	broad.mit.edu	37	7	142428833	142428833	+	RNA	SNP	A	A	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:142428833A>G	ENST00000390400.2	+	0	213																											GCTACGGCTGATCTATTTCTC	0.438000													6	20					0	0	0.000157383	0	0
CASS4	57091	broad.mit.edu	37	20	55027409	55027409	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:55027409C>T	ENST00000371336.3	+	5	1378	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P393S	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	393	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCCCCATCTCCTGAACCGGA	0.547000													10	31					0	0	6.40141e-05	0	0
TRPM4	54795	broad.mit.edu	37	19	49671814	49671814	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:49671814C>T	ENST00000252826.5	+	6	743	c.617C>T	c.(616-618)tCg>tTg	p.S206L	TRPM4_ENST00000427978.2_Missense_Mutation_p.S206L|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	206					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCTAGGGCTCGTTCCCTGCG	0.647000													16	34					0	0	0.000132079	0	0
GYS2	2998	broad.mit.edu	37	12	21699368	21699368	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:21699368G>A	ENST00000261195.2	-	12	1713	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	487					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGTAGTAAGGGACTGGTGGAG	0.373000													8	30					0	0	0.000274275	0	0
GPD2	2820	broad.mit.edu	37	2	157427695	157427695	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:157427695C>T	ENST00000310454.6	+	13	2030	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	GPD2_ENST00000409674.1_Missense_Mutation_p.S553L|GPD2_ENST00000409125.4_Missense_Mutation_p.S326L|GPD2_ENST00000438166.2_Missense_Mutation_p.S553L|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	553					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GATATGATTTCACGTCGTACT	0.418000													32	86					0	0	0.00058488	0	0
CSMD2	114784	broad.mit.edu	37	1	34117982	34117982	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:34117982C>T	ENST00000373381.4	-	28	4703	c.4527G>A	c.(4525-4527)aaG>aaA	p.K1509K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.K382K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1469	CUB 9.					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)				AGTCACACTCCTTGCCTGGCG	0.557000													24	62					0	0	0.00047179	0	0
C3orf56	285311	broad.mit.edu	37	3	126916050	126916050	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:126916050C>T	ENST00000398112.1	+	2	762	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AGGGGCCATCCAGAGGAGCTC	0.637000													6	24					0	0	8.12818e-05	0	0
VSTM4	196740	broad.mit.edu	37	10	50315705	50315705	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:50315705C>T	ENST00000332853.3	-	2	414	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	VSTM4_ENST00000298454.3_Missense_Mutation_p.E131K	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	131	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGCTGATTTCCTGGACTCTG	0.617000													13	52					0	0	0.000151284	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629920	9629920	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:9629920G>A	ENST00000382492.2	-	1	543	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	75					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AACACATGATGAATTCTATGA	0.393000													7	25					0	0	8.12818e-05	0	0
CBLB	868	broad.mit.edu	37	3	105421148	105421148	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:105421148G>A	ENST00000264122.4	-	12	2070	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	CBLB_ENST00000394027.3_Silent_p.S605S|CBLB_ENST00000405772.1_Silent_p.S583S|CBLB_ENST00000403724.1_Silent_p.S583S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	583	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCGGGTCTCTGGAAGGCACGC	0.542000			Mis S		AML								9	39					0	0	0.000274275	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601033	64601033	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:64601033G>A	ENST00000498707.1	-	21	3495	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	ADAMTS9_ENST00000295903.4_Silent_p.F1023F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1051					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGGACAAGGGAACTCACTGC	0.458000													109	327					0	0	0.000147903	0	0
COL28A1	340267	broad.mit.edu	37	7	7516754	7516754	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:7516754G>A	ENST00000399429.3	-	14	1362	c.1222C>T	c.(1222-1224)Cca>Tca	p.P408S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	408					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTTGGTCCTGGAAATCCTTCT	0.458000													27	71					0	0	0.000409698	0	0
ZP1	22917	broad.mit.edu	37	11	60637231	60637231	+	Silent	SNP	C	C	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:60637231C>A	ENST00000278853.5	+	3	540	c.540C>A	c.(538-540)ccC>ccA	p.P180P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	180					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATGCCTTTCCCAGCCCACTGG	0.632000													9	27					2.80697e-09	5.74753e-08	6.40141e-05	1	0
SERTAD4	56256	broad.mit.edu	37	1	210415243	210415243	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:210415243G>A	ENST00000367012.3	+	4	862	c.632G>A	c.(631-633)gGa>gAa	p.G211E	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	211							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GCTAATGTTGGAAGTGCCTCC	0.507000													47	117					0	0	0.000147903	0	0
GRIA4	2893	broad.mit.edu	37	11	105623911	105623911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:105623911G>A	ENST00000393127.2	+	4	898	c.452G>A	c.(451-453)tGg>tAg	p.W151*	GRIA4_ENST00000525187.1_Nonsense_Mutation_p.W151*|GRIA4_ENST00000428631.2_Nonsense_Mutation_p.W151*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.W151*|GRIA4_ENST00000393125.2_Nonsense_Mutation_p.W151*|GRIA4_ENST00000530497.1_Nonsense_Mutation_p.W151*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	151					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CACTACGAATGGAACTGTTTT	0.433000													89	80					0	0	0.000147903	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795746	69795746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:69795746G>A	ENST00000251566.4	-	6	1399	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.R168*	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGACTGCTCGATCTAGGGGC	0.448000													16	72					0	0	7.07596e-05	0	0
TRHR	7201	broad.mit.edu	37	8	110100013	110100013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:110100013G>A	ENST00000518632.1	+	2	623	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W91*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	91						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TACGGTTCCTGGGTCTATGGC	0.493000													27	84					0	0	0.000339439	0	0
CCDC181	57821	broad.mit.edu	37	1	169388397	169388397	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:169388397C>T	ENST00000545005.1	-	5	1576	c.1068_splice	c.e5-1	p.E357_splice	CCDC181_ENST00000367805.3_Splice_Site_p.E357_splice|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Splice_Site_p.E357_splice					coiled-coil domain containing 181																		CGTCGCTCTTCCTAGTAAAAG	0.308000													8	17					0	0	0.000157383	0	0
C22orf42	150297	broad.mit.edu	37	22	32554993	32554993	+	Silent	SNP	C	C	T	rs138905164	byFrequency	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:32554993C>T	ENST00000382097.3	-	1	282	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	70										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCAGCATCTTCGGCGTCTTCG	0.557000													54	158					0	0	0.000147903	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679735	219679735	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:219679735C>T	ENST00000258415.4	+	9	2005	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	526					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GCCTGCAGTTCCTGCAGAGAC	0.587000													15	26					0	0	0.000308642	0	0
FANCM	57697	broad.mit.edu	37	14	45628328	45628328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:45628328G>T	ENST00000267430.5	+	9	1511	c.1426G>T	c.(1426-1428)Gag>Tag	p.E476*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.E450*|FANCM_ENST00000556036.1_Nonsense_Mutation_p.E476*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	476	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACGTGATGAGACCCGAGT	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	10					7.48243e-07	1.51837e-05	0.000442599	1	0
PAPPA	5069	broad.mit.edu	37	9	119115959	119115959	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:119115959C>T	ENST00000328252.3	+	17	4603	c.4234C>T	c.(4234-4236)Cct>Tct	p.P1412S	PAPPA_ENST00000534838.1_Missense_Mutation_p.P450S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1412	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTTGTGTTCCTGTGACCTG	0.507000													21	34					0	0	0.000229342	0	0
BRINP3	339479	broad.mit.edu	37	1	190068158	190068158	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:190068158C>T	ENST00000367462.3	-	8	1522	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.D329N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		431						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ACCACCTGGTCATTCGGACAC	0.592000													5	19					0	0	8.12818e-05	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71191934	71191934	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:71191934C>T	ENST00000234396.4	+	13	1390	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	ATP6V1B1_ENST00000412314.1_Silent_p.T422T|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	439					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						AGGCGCTCACCTCTGAGGACC	0.592000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	40					0	0	6.40141e-05	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673118	141673118	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:141673118G>A	ENST00000547270.1	-	1	455	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	124					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGGTGTGAGAGAAACGGATGA	0.522000													8	25					0	0	0.000157383	0	0
OR4K15	81127	broad.mit.edu	37	14	20444148	20444148	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:20444148G>A	ENST00000305051.5	+	1	546	c.471G>A	c.(469-471)atG>atA	p.M157I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCACTACATGACAGTCATGA	0.453000													36	97					0	0	0.000109025	0	0
SLC4A4	8671	broad.mit.edu	37	4	72432772	72432772	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:72432772C>T	ENST00000425175.1	+	24	3268	c.3151C>T	c.(3151-3153)Cct>Tct	p.P1051S	SLC4A4_ENST00000264485.5_3'UTR|SLC4A4_ENST00000351898.6_3'UTR|SLC4A4_ENST00000340595.3_3'UTR	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGATAAAATTCCTTTCCTTCA	0.378000													17	65					0	0	0.000229342	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268851	30268851	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:30268851G>A	ENST00000378981.3	+	4	562	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	MAGEB1_ENST00000397548.2_Missense_Mutation_p.E81K|MAGEB1_ENST00000397550.1_Missense_Mutation_p.E81K	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	81										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGAATCTGACGAAGGTGCCAA	0.557000													5	6					0	0	3.59834e-05	0	0
MYOCD	93649	broad.mit.edu	37	17	12666526	12666526	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:12666526C>T	ENST00000425538.1	+	14	2726	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Silent_p.I794I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	794					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCCAGATCCCCTTTGATC	0.483000													25	81					0	0	0.000147802	0	0
C9orf131	138724	broad.mit.edu	37	9	35044878	35044878	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:35044878G>A	ENST00000312292.5	+	2	2299	c.2252G>A	c.(2251-2253)gGa>gAa	p.G751E	C9orf131_ENST00000421362.2_Missense_Mutation_p.G703E|C9orf131_ENST00000354479.5_Missense_Mutation_p.G678E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	751										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTACCCAAGGGAGTAACGTGC	0.602000													17	33					0	0	0.000422831	0	0
DDX11	1663	broad.mit.edu	37	12	31255459	31255459	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:31255459C>T	ENST00000407793.2	+	23	2621	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G	DDX11_ENST00000350437.4_Silent_p.G740G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.G764G|DDX11_ENST00000545668.1_Silent_p.G790G|DDX11_ENST00000542838.1_Silent_p.G790G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	790					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTAGGCCGGTAAGTAG	0.612000										Multiple Myeloma(12;0.14)			18	27					0	0	7.07596e-05	0	0
TNN	63923	broad.mit.edu	37	1	175105031	175105031	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:175105031G>A	ENST00000239462.4	+	16	3494	c.3381G>A	c.(3379-3381)agG>agA	p.R1127R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1127	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCGATGGAGGAGCTATGTGG	0.532000													32	95					0	0	0.000132358	0	0
NUAK1	9891	broad.mit.edu	37	12	106464638	106464638	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:106464638C>T	ENST00000261402.2	-	6	2125	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	249	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGGCATTGTTCCATAAACAAG	0.537000													9	34					0	0	0.000274275	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45523370	45523370	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr21:45523370C>T	ENST00000291574.4	+	23	3913	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1246					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCCTGGTCATCCCCAGCCAAG	0.607000													5	15					0	0	8.12818e-05	0	0
OR2T1	26696	broad.mit.edu	37	1	248570031	248570031	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:248570031G>A	ENST00000366474.1	+	1	736	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E246K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			AGCCCTCTACGAGACAGTGAT	0.498000													16	48					0	0	7.07596e-05	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089779	115089779	+	Silent	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:115089779G>T	ENST00000361283.1	+	3	771	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	154	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TTACTCCCCTGGAGCCTCAGA	0.483000													8	145					0.000274275	0.00543593	0.000274275	1	0
ARL11	115761	broad.mit.edu	37	13	50204873	50204873	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:50204873C>T	ENST00000282026.1	+	2	625	c.290C>T	c.(289-291)cCc>cTc	p.P97L	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	97					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCCCGCTTACCCGAGTCGGCG	0.607000													15	56					0	0	0.000566183	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885116	88885116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:88885116C>T	ENST00000319675.3	-	1	1180	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	362								p.D362Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTGGGAATGTCGTTCTCCGAG	0.627000													14	39					0	0	0.000219431	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985699	82985699	+	Silent	SNP	G	G	A	rs149725315		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:82985699G>A	ENST00000529689.1	-	4	843	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	CCDC90B_ENST00000529073.1_Silent_p.L137L|CCDC90B_ENST00000525503.1_Silent_p.L36L|CCDC90B_ENST00000455220.2_Silent_p.L128L|CCDC90B_ENST00000529611.1_Silent_p.L36L			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	137						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCTGCTCTCAGATTTGCAAAT	0.308000													35	33					0	0	0.000109025	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323421	44323421	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr21:44323421G>T	ENST00000354250.2	+	3	368	c.299G>T	c.(298-300)aGt>aTt	p.S100I	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GCTAGTCCCAGTCCCAGTGGC	0.473000													33	95					1.66425e-11	3.42835e-10	0.000159656	1	0
ZNF99	7652	broad.mit.edu	37	19	22940058	22940058	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:22940058G>A	ENST00000397104.3	-	6	2272	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.348000													7	30					0	0	8.12818e-05	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150363	70150363	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:70150363C>T	ENST00000550536.1	+	3	935	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	RAB3IP_ENST00000483530.2_Missense_Mutation_p.R144C|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R144C|RAB3IP_ENST00000247833.7_Missense_Mutation_p.R144C|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R160C	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	160					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.R160S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TAGTCTGTCTCGTTTACGAAG	0.393000													18	84					0	0	9.7654e-05	0	0
ST7	7982	broad.mit.edu	37	7	116862934	116862934	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:116862934C>T	ENST00000265437.5	+	16	1872	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	ST7_ENST00000393444.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000422922.1_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	553						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATTTTCTGCTCGGCAGAGTTC	0.428000													38	52					0	0	0.000509022	0	0
C1QL3	389941	broad.mit.edu	37	10	16556625	16556625	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:16556625C>T	ENST00000298943.3	-	2	1609	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	224	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACTTCATCTCCCGGCTCCAAA	0.418000													15	51					0	0	0.000566183	0	0
RYR1	6261	broad.mit.edu	37	19	38958278	38958278	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:38958278C>T	ENST00000355481.4	+	25	3338	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D	RYR1_ENST00000360985.3_Silent_p.D1069D|RYR1_ENST00000359596.3_Silent_p.D1069D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1069	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCGTTGTGACCGGGTGCGCA	0.557000													29	73					0	0	0.000339439	0	0
SP140L	93349	broad.mit.edu	37	2	231223698	231223698	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:231223698G>A	ENST00000243810.6	+	4	290	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.R97K|SP140L_ENST00000444636.1_Missense_Mutation_p.R97K|SP140L_ENST00000458341.1_Missense_Mutation_p.R10K|SP140L_ENST00000396563.4_Missense_Mutation_p.R97K			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	97	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GATTCTTGTAGAAACCTGGTC	0.363000													31	94					0	0	0.000132358	0	0
SETD1A	9739	broad.mit.edu	37	16	30976275	30976275	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr16:30976275C>T	ENST00000262519.8	+	7	1898	c.1212C>T	c.(1210-1212)cgC>cgT	p.R404R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	404	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGCTGAGCGCTTCCCACCTT	0.652000													27	74					0	0	0.000227799	0	0
TNNT2	7139	broad.mit.edu	37	1	201334327	201334327	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:201334327C>T	ENST00000509001.1	-	9	659	c.373G>A	c.(373-375)Gac>Aac	p.D125N	TNNT2_ENST00000367322.1_Missense_Mutation_p.D125N|TNNT2_ENST00000236918.7_Missense_Mutation_p.D130N|TNNT2_ENST00000421663.2_Missense_Mutation_p.D127N|TNNT2_ENST00000458432.2_Missense_Mutation_p.D137N|TNNT2_ENST00000360372.4_Missense_Mutation_p.D120N|TNNT2_ENST00000367318.5_Missense_Mutation_p.D125N|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367315.2_Missense_Mutation_p.D125N|TNNT2_ENST00000367317.4_Missense_Mutation_p.D125N	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	135					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ACGATCCTGTCTTTGAGAGAA	0.552000													24	88					0	0	0.00047179	0	0
BTF3	689	broad.mit.edu	37	5	72794965	72794965	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:72794965G>C	ENST00000380591.3	+	2	358	c.139G>C	c.(139-141)Gaa>Caa	p.E47Q	BTF3_ENST00000335895.8_Missense_Mutation_p.E3Q|BTF3_ENST00000514505.2_Intron	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	47					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CTAGATGAAAGAAACAATCAT	0.403000													13	33					0	0	0.000308642	0	0
TSNARE1	203062	broad.mit.edu	37	8	143395785	143395785	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:143395785G>A	ENST00000519651.1	-	7	534	c.431C>T	c.(430-432)tCc>tTc	p.S144F	TSNARE1_ENST00000524325.1_Missense_Mutation_p.S363F|TSNARE1_ENST00000307180.3_Missense_Mutation_p.S364F|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S363F|TSNARE1_ENST00000518928.1_5'UTR			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	364					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCGCTCTGGACTTTTCTGC	0.532000													7	24					0	0	0.000274275	0	0
PLCE1	51196	broad.mit.edu	37	10	96014752	96014752	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:96014752C>T	ENST00000260766.3	+	11	4134	c.3500C>T	c.(3499-3501)cCc>cTc	p.P1167L	PLCE1_ENST00000371385.3_Missense_Mutation_p.P859L|PLCE1_ENST00000371380.2_Missense_Mutation_p.P1167L|PLCE1_ENST00000371375.1_Missense_Mutation_p.P859L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1167					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGTCATCTCCCATCAGGCCA	0.552000													17	71					0	0	7.07596e-05	0	0
LSM14A	26065	broad.mit.edu	37	19	34712640	34712640	+	Silent	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:34712640T>C	ENST00000544216.3	+	9	1442	c.1365T>C	c.(1363-1365)taT>taC	p.Y455Y	LSM14A_ENST00000433627.5_Silent_p.Y455Y|LSM14A_ENST00000540746.2_Silent_p.Y414Y	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	455					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ATTTTGAATATAGGGTAAGTG	0.453000													9	40					0	0	0.000442599	0	0
TMEM66	51669	broad.mit.edu	37	8	29927235	29927235	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:29927235G>A	ENST00000256255.6	-	3	880	c.623C>T	c.(622-624)cCt>cTt	p.P208L	TMEM66_ENST00000545648.1_Missense_Mutation_p.P36L|TMEM66_ENST00000536273.1_Missense_Mutation_p.P36L	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	208						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGAAAATGGAGGATACTCAGA	0.507000													9	86					0	0	3.86212e-05	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813600	24813600	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:24813600C>T	ENST00000376451.2	+	8	2114	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	KIAA1217_ENST00000396446.1_Silent_p.S618S|KIAA1217_ENST00000376462.1_Silent_p.S855S|KIAA1217_ENST00000458595.1_Silent_p.S900S|KIAA1217_ENST00000307544.6_Silent_p.S618S|KIAA1217_ENST00000376454.3_Silent_p.S935S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Silent_p.S900S|KIAA1217_ENST00000396445.1_Silent_p.S618S			Q5T5P2	SKT_HUMAN	KIAA1217	935					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCGCAGTCCCCACAGATAC	0.572000													5	33					0	0	3.59834e-05	0	0
APC	324	broad.mit.edu	37	5	112175912	112175912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:112175912C>T	ENST00000457016.1	+	16	5001	c.4621C>T	c.(4621-4623)Cag>Tag	p.Q1541*	APC_ENST00000508376.2_Nonsense_Mutation_p.Q1541*|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1541*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1541	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Q1541*(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAATCAGAGCAGCCTAAAGA	0.358000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	37					0	0	0.000151284	0	0
ADAM7	8756	broad.mit.edu	37	8	24324528	24324528	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:24324528C>T	ENST00000441335.2	+	6	785	c.606C>T	c.(604-606)ccC>ccT	p.P202P	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000175238.6_Intron|ADAM7_ENST00000380789.1_Intron			Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	0	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TATCTTTACCCCAAATGAAAC	0.343000													11	24					0	0	3.86212e-05	0	0
FLG	2312	broad.mit.edu	37	1	152280839	152280839	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152280839C>T	ENST00000368799.1	-	3	6558	c.6523G>A	c.(6523-6525)Gga>Aga	p.G2175R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2175	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2175*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACCTTCCCTGGGATGTG	0.562000									Ichthyosis				34	411					0	0	0.000228196	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034648	9034648	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:9034648C>T	ENST00000383836.3	-	20	2927	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.D810N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	834					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GACTGGAGGTCGTTTTTGGAA	0.582000			T	RAF1	pilocytic astrocytoma								10	32					0	0	3.86212e-05	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407478	75407478	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:75407478C>T	ENST00000394810.2	-	4	2081	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Silent_p.T420T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	644	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGAGTTCTTCGTCTCCTCCT	0.637000													50	121					0	0	0.000147903	0	0
MGAM	8972	broad.mit.edu	37	7	141759716	141759716	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:141759716G>A	ENST00000475668.2	+	33	4063	c.4009G>A	c.(4009-4011)Gat>Aat	p.D1337N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1337N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1337	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)	GGGCGTGGAGGATGACGTCTT	0.493000													5	29					0	0	3.59834e-05	0	0
CD200R1	131450	broad.mit.edu	37	3	112647750	112647750	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:112647750G>A	ENST00000471858.1	-	4	845	c.613C>T	c.(613-615)Cac>Tac	p.H205Y	CD200R1_ENST00000295863.4_Missense_Mutation_p.H183Y|CD200R1_ENST00000308611.3_Missense_Mutation_p.H228Y	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	205	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACCTCCCAGTGGCATGTACTC	0.507000													7	33					0	0	0.000157383	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819698	70819698	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:70819698T>C	ENST00000370944.4	-	1	707	c.394A>G	c.(394-396)Atc>Gtc	p.I132V	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.I132V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	132					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGCGTGCGGATGAGAGAGGAG	0.617000													4	17					0	0	0.00024832	0	0
PBLD	64081	broad.mit.edu	37	10	70048753	70048753	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:70048753G>A	ENST00000358769.2	-	7	649	c.447C>T	c.(445-447)gtC>gtT	p.V149V	PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000277795.4_Silent_p.V116V|PBLD_ENST00000309049.4_Silent_p.V149V|PBLD_ENST00000336578.1_Silent_p.V116V|PBLD_ENST00000432941.1_Silent_p.V149V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	149					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGATGTCCTGGACCAGTGTGT	0.512000													30	54					0	0	0.000409698	0	0
GAS2	2620	broad.mit.edu	37	11	22747973	22747973	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:22747973G>A	ENST00000454584.2	+	4	708	c.403G>A	c.(403-405)Ggt>Agt	p.G135S	GAS2_ENST00000433790.1_Missense_Mutation_p.G135S|GAS2_ENST00000278187.3_Missense_Mutation_p.G135S	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	135	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGAATCGGAAGGTTTGGGTAT	0.378000													12	78					0	0	0.000308642	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1842672	1842672	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:1842672C>T	ENST00000518288.1	+	14	1612	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ARHGEF10_ENST00000262112.6_Silent_p.I483I|ARHGEF10_ENST00000349830.3_Silent_p.I458I|ARHGEF10_ENST00000398560.1_Silent_p.I444I|ARHGEF10_ENST00000398564.1_Silent_p.I483I|ARHGEF10_ENST00000520359.1_Silent_p.I420I			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	483	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TATTTCAGATCGCGCTGGCCA	0.552000													10	36					0	0	3.86212e-05	0	0
IFNA13	3447	broad.mit.edu	37	9	21367911	21367911	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:21367911C>T	ENST00000449498.1	-	1	164	c.99G>A	c.(97-99)ctG>ctA	p.L33L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	32					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TCCTGTTATCCAGGCTGTGGG	0.542000													13	19					0	0	9.7654e-05	0	0
ARSD	414	broad.mit.edu	37	X	2828785	2828785	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:2828785G>A	ENST00000381154.1	-	7	1125	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	350						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAATACGTGAATGTTGAGT	0.423000													37	40					0	0	0.000191422	0	0
ARVCF	421	broad.mit.edu	37	22	19969131	19969131	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:19969131A>G	ENST00000263207.3	-	5	790	c.499T>C	c.(499-501)Ttc>Ctc	p.F167L	ARVCF_ENST00000406522.1_Missense_Mutation_p.F104L|ARVCF_ENST00000344269.3_Missense_Mutation_p.F104L|ARVCF_ENST00000406259.1_Missense_Mutation_p.F167L|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000401994.1_Missense_Mutation_p.F104L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	167					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGCAGCAGGAAATGCCGGTCC	0.687000													11	37					0	0	0.00010058	0	0
FLG	2312	broad.mit.edu	37	1	152284730	152284730	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152284730C>T	ENST00000368799.1	-	3	2667	c.2632G>A	c.(2632-2634)Gga>Aga	p.G878R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	878	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)			TCAGACCTTCCCTGGGATGTG	0.582000									Ichthyosis				12	320					0	0	0.000295444	0	0
MYO1A	4640	broad.mit.edu	37	12	57430866	57430866	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:57430866G>A	ENST00000442789.2	-	21	2352	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	MYO1A_ENST00000544473.1_Missense_Mutation_p.L527F|MYO1A_ENST00000300119.3_Missense_Mutation_p.L689F	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	689					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTTCTTCGAGGTAGAAAAGC	0.572000													26	72					0	0	0.000227799	0	0
ZYG11B	79699	broad.mit.edu	37	1	53267769	53267769	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:53267769C>T	ENST00000294353.6	+	10	1798	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	ZYG11B_ENST00000545132.1_Silent_p.F551F|ZYG11B_ENST00000443756.2_Intron	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	551							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACAGTCTTTCCCAACTGAGT	0.294000													17	91					0	0	0.000229342	0	0
PAX2	5076	broad.mit.edu	37	10	102587325	102587325	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:102587325C>T	ENST00000428433.1	+	11	1753	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	PAX2_ENST00000355243.3_Silent_p.A378A|PAX2_ENST00000361791.3_3'UTR|PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000556085.1_Silent_p.A377A	NM_003987.3|NM_003990.3	NP_003978.2|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	401					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		ATAGTGCCGCCCCCCGGGGCT	0.572000													20	75					0	0	9.22233e-05	0	0
RSRC1	51319	broad.mit.edu	37	3	157841716	157841716	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:157841716C>T	ENST00000464171.1	+	3	381	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	RSRC1_ENST00000475278.2_Missense_Mutation_p.R86C|RSRC1_ENST00000480820.1_Missense_Mutation_p.R86C|RSRC1_ENST00000312179.6_Missense_Mutation_p.R86C|RSRC1_ENST00000295930.3_Missense_Mutation_p.R86C	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	86	Arg/Ser-rich.				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)			AAGTCGAAGTCGTTCAAGGGG	0.383000													25	84					0	0	0.000227799	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431305	56431305	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:56431305G>A	ENST00000302969.2	+	1	168	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L48L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGATTATCCTGATTACAACAG	0.478000													41	116					0	0	0.000125731	0	0
DYSF	8291	broad.mit.edu	37	2	71730347	71730347	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:71730347C>T	ENST00000258104.3	+	4	517	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DYSF_ENST00000409366.1_Silent_p.F81F|DYSF_ENST00000429174.2_Silent_p.F80F|DYSF_ENST00000413539.2_Silent_p.F80F|DYSF_ENST00000410020.3_Silent_p.F81F|DYSF_ENST00000410041.1_Silent_p.F81F|DYSF_ENST00000409762.1_Silent_p.F80F|DYSF_ENST00000409651.1_Silent_p.F81F|DYSF_ENST00000409744.1_Silent_p.F81F|DYSF_ENST00000394120.2_Silent_p.F81F|DYSF_ENST00000409582.3_Silent_p.F80F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	80	C2 1.					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						CTCTCAGGTTCCTGGGGGAAG	0.592000													22	91					0	0	0.000375601	0	0
OR8B12	219858	broad.mit.edu	37	11	124412729	124412729	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:124412729G>A	ENST00000306842.2	-	1	846	c.822C>T	c.(820-822)tcC>tcT	p.S274S		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TATAGAACAGGGAGGACACTT	0.438000													19	30					0	0	0.000132079	0	0
SAGE1	55511	broad.mit.edu	37	X	134989136	134989136	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:134989136C>T	ENST00000535938.1	+	8	955	c.788C>T	c.(787-789)cCc>cTc	p.P263L	SAGE1_ENST00000370709.3_Missense_Mutation_p.P263L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P263L|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	263										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGGGCCAACCCCAACCTGAT	0.463000													23	18					0	0	0.000295444	0	0
STPG2	285555	broad.mit.edu	37	4	98762039	98762039	+	Silent	SNP	C	C	T	rs142342055		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:98762039C>T	ENST00000295268.3	-	9	1178	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		CTTGGGACATCTCATATGATT	0.358000													26	103					0	0	9.22233e-05	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988324	103988324	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:103988324C>T	ENST00000370005.3	+	3	605	c.385_splice	c.e3+1	p.L128_splice		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	128					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.L128L(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TCATAGAACTCGGTGAGTGGC	0.512000													25	66					0	0	0.000117367	0	0
OR2M5	127059	broad.mit.edu	37	1	248309135	248309135	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:248309135G>A	ENST00000366476.1	+	1	686	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	229					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)			ATTCACATGGGATCTGGAGAG	0.448000													48	147					0	0	0.000147903	0	0
C1orf87	127795	broad.mit.edu	37	1	60456397	60456397	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:60456397G>A	ENST00000371201.3	-	12	1696	c.1589C>T	c.(1588-1590)tCg>tTg	p.S530L	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.S164L|C1orf87_ENST00000450089.2_Missense_Mutation_p.S301L	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	530							calcium ion binding	p.S530L(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTTTCTCCCGAACGGAATCT	0.473000													55	161					0	0	0.000147903	0	0
DNAH10	196385	broad.mit.edu	37	12	124315125	124315125	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:124315125T>C	ENST00000409039.3	+	25	4095	c.4070T>C	c.(4069-4071)gTc>gCc	p.V1357A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1357	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)		AAAACGTCTGTCTTTTTTGAA	0.373000													33	70					0	0	0.000191422	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887329	12887329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:12887329C>T	ENST00000535591.1	-	3	723	c.528G>A	c.(526-528)tgG>tgA	p.W176*		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	176										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGGCAGTATCCACTTGCAAT	0.483000													71	234					0	0	0.000147903	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33060754	33060754	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:33060754G>A	ENST00000373510.4	+	4	1152	c.923G>A	c.(922-924)aGg>aAg	p.R308K	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R308K	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						ACAGGAGAAAGGCCCTATCCA	0.453000													23	61					0	0	0.000147802	0	0
VWF	7450	broad.mit.edu	37	12	6181605	6181605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:6181605C>T	ENST00000261405.5	-	9	1255	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	334	TIL 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGAGCTGTCCCTCTGGGGT	0.572000													20	44					0	0	0.000295444	0	0
PTPRR	5801	broad.mit.edu	37	12	71286483	71286483	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:71286483G>A	ENST00000283228.2	-	2	785	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	111					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGCTGCTGGGATTGGGAGAT	0.418000													30	84					0	0	0.000491102	0	0
OR13C8	138802	broad.mit.edu	37	9	107331799	107331799	+	Silent	SNP	G	G	A	rs140558238		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:107331799G>A	ENST00000335040.1	+	1	351	c.351G>A	c.(349-351)acG>acA	p.T117T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTAGGCACGATGGCACTGG	0.522000													15	22					0	0	0.000219431	0	0
ZNF280D	54816	broad.mit.edu	37	15	56981258	56981258	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:56981258G>A	ENST00000559237.1	-	8	1405	c.722C>T	c.(721-723)cCt>cTt	p.P241L	ZNF280D_ENST00000267807.7_Missense_Mutation_p.P254L|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P241L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATTTTTCAAAGGATCCAAAAG	0.284000													19	73					0	0	0.000175454	0	0
ZNF536	9745	broad.mit.edu	37	19	31025837	31025837	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:31025837G>A	ENST00000355537.3	+	3	2401	c.2254G>A	c.(2254-2256)Gac>Aac	p.D752N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCCATGAAGGACTGCCCGTA	0.587000													12	69					0	0	6.40141e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34038260	34038260	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:34038260C>T	ENST00000373381.4	-	50	7784	c.7608G>A	c.(7606-7608)aaG>aaA	p.K2536K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2538	Sushi 15.					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)				CCATTCCATTCTTGGGGGCCT	0.488000													16	54					0	0	0.000229342	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493762	20493762	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:20493762G>A	ENST00000202677.6	-	32	4393	c.4251C>T	c.(4249-4251)tcC>tcT	p.S1417S		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1417					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACACCTCAAAGGACAGCTCGG	0.552000													4	22					0	0	3.59834e-05	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323194	57323194	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:57323194C>T	ENST00000293502.1	-	3	847	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	235						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATAATCCTCTCCGTAGCTGTC	0.577000													15	45					0	0	7.07596e-05	0	0
MTRF1	9617	broad.mit.edu	37	13	41834968	41834968	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:41834968G>A	ENST00000379480.4	-	2	176	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.H39Y|MTRF1_ENST00000379477.1_Missense_Mutation_p.H26Y	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	26					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TGATGAGAATGGAGCTGGATG	0.378000													12	29					0	0	0.000219431	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362371	72362371	+	Missense_Mutation	SNP	G	G	A	rs142987158		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:72362371G>A	ENST00000001146.2	-	3	810	c.607C>T	c.(607-609)Cct>Tct	p.P203S	CYP26B1_ENST00000546307.1_Missense_Mutation_p.P128S|CYP26B1_ENST00000412253.1_Missense_Mutation_p.P12S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	203					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.P203S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCTCCTCAGGGATGCTGAAG	0.632000													14	55					0	0	0.000308642	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481797	140481797	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:140481797G>A	ENST00000231130.2	+	1	1564	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		522	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACTACGAGGCCCTGCA	0.692000													10	36					0	0	0.000566183	0	0
CHRM2	1129	broad.mit.edu	37	7	136700081	136700081	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:136700081C>T	ENST00000445907.2	+	3	997	c.469C>T	c.(469-471)Cca>Tca	p.P157S	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P157S|CHRM2_ENST00000320658.5_Missense_Mutation_p.P157S|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P157S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P157S|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P157S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	157					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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)	CCTCTGGGCTCCAGCCATTCT	0.502000													25	77					0	0	0.000117367	0	0
ZNF106	64397	broad.mit.edu	37	15	42743105	42743105	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:42743105G>A	ENST00000263805.4	-	2	1622	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		CTGCAGTGGGGCACTGTCTCA	0.433000													62	140					0	0	0.000147903	0	0
SPINK5	11005	broad.mit.edu	37	5	147478852	147478852	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:147478852G>A	ENST00000359874.3	+	12	1139	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000256084.7_Missense_Mutation_p.E356K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E356K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	356					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAAAAGAGAATCTGGAAA	0.373000													8	20					0	0	0.000442599	0	0
RYR3	6263	broad.mit.edu	37	15	33855189	33855189	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:33855189G>A	ENST00000389232.4	+	11	1194	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RYR3_ENST00000415757.3_Missense_Mutation_p.R375H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	375	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R375H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAACTTCCCGCCTGGGACCT	0.448000													30	73					0	0	0.000409698	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573066	140573066	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:140573066C>T	ENST00000239446.4	+	1	1125	c.941C>T	c.(940-942)tCt>tTt	p.S314F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGTAAATTCTTACAAAATA	0.373000													13	36					0	0	0.00010058	0	0
IKZF2	22807	broad.mit.edu	37	2	213914548	213914548	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:213914548G>A	ENST00000457361.1	-	5	631	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	IKZF2_ENST00000434687.1_Missense_Mutation_p.L155F|IKZF2_ENST00000374319.4_Missense_Mutation_p.L129F|IKZF2_ENST00000451136.2_Missense_Mutation_p.L129F|IKZF2_ENST00000413091.3_Missense_Mutation_p.L155F|IKZF2_ENST00000421754.2_Missense_Mutation_p.L129F|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.L161F	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTCTCAGAAGGTTGCCCTTC	0.488000													4	26					0	0	0.00024832	0	0
AQP9	366	broad.mit.edu	37	15	58465346	58465346	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:58465346G>A	ENST00000219919.4	+	3	688	c.318G>A	c.(316-318)gtG>gtA	p.V106V	AQP9_ENST00000536493.1_Silent_p.V106V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.V41V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	106					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CATTTTATGTGGGAGCCCAGT	0.488000													51	163					0	0	0.000147903	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	11					0	0	0.00024832	0	0
CCR2	729230	broad.mit.edu	37	3	46399601	46399601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:46399601C>T	ENST00000292301.4	+	2	1068	c.583C>T	c.(583-585)Cca>Tca	p.P195S	CCR2_ENST00000400888.2_Missense_Mutation_p.P195S|CCR2_ENST00000445132.2_Missense_Mutation_p.P195S|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	195					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCCTTATTTTCCACGAGGATG	0.453000													99	294					0	0	0.000147903	0	0
F2	2147	broad.mit.edu	37	11	46747541	46747541	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:46747541G>A	ENST00000311907.5	+	7	748	c.692G>A	c.(691-693)gGg>gAg	p.G231E	F2_ENST00000530231.1_Missense_Mutation_p.G231E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	231	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCACACATGGGCTCCCCTGC	0.642000													15	29					0	0	0.000422831	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634942	70634942	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:70634942C>T	ENST00000381269.2	-	2	951	c.198G>A	c.(196-198)gaG>gaA	p.E66E	SLC8A3_ENST00000357887.3_Silent_p.E66E|SLC8A3_ENST00000356921.2_Silent_p.E66E|SLC8A3_ENST00000534137.1_Silent_p.E66E|SLC8A3_ENST00000528359.1_Silent_p.E66E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	66					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGGAAGGGTTCTCCGGGTACC	0.547000													11	32					0	0	6.40141e-05	0	0
ARMS2	387715	broad.mit.edu	37	10	124214457	124214457	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:124214457C>T	ENST00000528446.1	+	1	289	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	72					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCTAAAATCCACACTGAGCT	0.527000													6	32					0	0	3.59834e-05	0	0
PAMR1	25891	broad.mit.edu	37	11	35456129	35456129	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:35456129G>A	ENST00000378880.2	-	10	2002	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	PAMR1_ENST00000532848.1_Silent_p.D479D|PAMR1_ENST00000378878.3_Silent_p.D408D|PAMR1_ENST00000278360.3_Silent_p.D536D	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	519	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAACTTTCAGGTCTGCTGTCT	0.552000													23	76					0	0	0.000147802	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209922	65209922	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:65209922G>A	ENST00000247226.7	+	15	3301	c.2993G>A	c.(2992-2994)tGc>tAc	p.C998Y	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.C559Y|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.C1054Y|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.C587Y|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1054					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGTGAGCTCTGCTCCAAGTAT	0.721000													13	55					0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179617872	179617872	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179617872C>T	ENST00000589042.1	-	47	11514	c.11290G>A	c.(11290-11292)Gag>Aag	p.E3764K	TTN_ENST00000342992.6_Missense_Mutation_p.E3447K|TTN_ENST00000591111.1_Missense_Mutation_p.E3447K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3401K|TTN_ENST00000360870.5_Missense_Mutation_p.E3447K|TTN_ENST00000359218.5_Missense_Mutation_p.E3526K|TTN_ENST00000342175.6_Missense_Mutation_p.E3593K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3447							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)			ATCTCAATCTCTTGTTCAATC	0.294000													6	34					0	0	0.000274275	0	0
PHKA2	5256	broad.mit.edu	37	X	18959728	18959728	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:18959728G>A	ENST00000379942.4	-	8	1448	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	261					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGAAATAATGGAAAGAAGTC	0.403000													21	14					0	0	0.000375601	0	0
CGNL1	84952	broad.mit.edu	37	15	57731149	57731149	+	Missense_Mutation	SNP	G	G	A	rs141629614		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:57731149G>A	ENST00000281282.5	+	2	1030	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	318	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGATGATCAGGAATGTGCCAT	0.517000													8	34					0	0	6.40141e-05	0	0
HELB	92797	broad.mit.edu	37	12	66700177	66700177	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:66700177C>T	ENST00000247815.4	+	3	719	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	220					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAATGGAATTCCTTCCAGTTC	0.368000													23	76					0	0	0.000375601	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702304	27702304	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:27702304C>T	ENST00000438700.3	-	1	993	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	292					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGAGGGGATGCCTGCCGTGGT	0.627000													12	44					0	0	0.000219431	0	0
CHD6	84181	broad.mit.edu	37	20	40034065	40034065	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:40034065G>A	ENST00000373233.3	-	37	7493	c.7316C>T	c.(7315-7317)cCc>cTc	p.P2439L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2439					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTCCTGCGGGGGCCCGTATC	0.532000													13	30					0	0	0.000151284	0	0
TANGO2	128989	broad.mit.edu	37	22	20024356	20024356	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:20024356C>T	ENST00000327374.4	+	2	213	c.35C>T	c.(34-36)cCt>cTt	p.P12L	TANGO2_ENST00000401886.1_Missense_Mutation_p.P12L|TANGO2_ENST00000401833.1_5'UTR|TANGO2_ENST00000420290.2_5'UTR|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000432883.1_Missense_Mutation_p.P12L|TANGO2_ENST00000447208.2_Missense_Mutation_p.P12L|TANGO2_ENST00000434570.2_5'UTR|TANGO2_ENST00000398042.2_Missense_Mutation_p.P12L	NM_152906.4	NP_690870.3			transport and golgi organization 2 homolog (Drosophila)																		GATCCTCGCCCTGTTTCCAAA	0.577000													26	65					0	0	0.000279167	0	0
CCDC141	285025	broad.mit.edu	37	2	179732794	179732794	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179732794G>A	ENST00000420890.2	-	16	2650	c.2533C>T	c.(2533-2535)Ctt>Ttt	p.L845F	CCDC141_ENST00000295723.5_Missense_Mutation_p.L270F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	270	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTAAGGAAAGGGCCAGTCTG	0.517000													9	36					0	0	3.86212e-05	0	0
GLP2R	9340	broad.mit.edu	37	17	9765381	9765381	+	Silent	SNP	C	C	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:9765381C>A	ENST00000262441.5	+	9	1543	c.1030C>A	c.(1030-1032)Cga>Aga	p.R344R	GLP2R_ENST00000574745.1_Silent_p.R164R	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	344					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.R344*(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTGGATCATCCGAGGACCCAT	0.502000													8	149					3.86212e-05	0.000774475	3.86212e-05	1	0
PIK3R5	23533	broad.mit.edu	37	17	8791943	8791943	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:8791943C>T	ENST00000447110.1	-	10	1285	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	PIK3R5_ENST00000584803.1_Missense_Mutation_p.M387I|PIK3R5_ENST00000581552.1_Missense_Mutation_p.M387I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	387					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						AGCCGCTGTCCATGCCATCAG	0.662000													8	21					0	0	0.000157383	0	0
SLC12A6	9990	broad.mit.edu	37	15	34529692	34529692	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:34529692G>A	ENST00000354181.3	-	22	3354	c.2862C>T	c.(2860-2862)atC>atT	p.I954I	SLC12A6_ENST00000290209.5_Silent_p.I903I|SLC12A6_ENST00000397702.2_Silent_p.I895I|SLC12A6_ENST00000451844.2_Silent_p.I766I|SLC12A6_ENST00000558589.1_Silent_p.I945I|SLC12A6_ENST00000397707.2_Silent_p.I939I|SLC12A6_ENST00000458406.2_Silent_p.I895I|SLC12A6_ENST00000560164.1_Silent_p.I766I|SLC12A6_ENST00000558667.1_Silent_p.I954I|SLC12A6_ENST00000560611.1_Silent_p.I954I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	954					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCTTCATTTGGATACTGTTGT	0.448000													16	48					0	0	7.07596e-05	0	0
COL11A1	1301	broad.mit.edu	37	1	103471440	103471440	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:103471440C>A	ENST00000358392.2	-	18	2152	c.1835G>T	c.(1834-1836)cGa>cTa	p.R612L	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.R484L|COL11A1_ENST00000370096.3_Missense_Mutation_p.R600L|COL11A1_ENST00000353414.4_Missense_Mutation_p.R561L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	600	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCAAACCCTCGATCTCCCTG	0.373000													6	141					0.000274275	0.00543593	0.000274275	1	0
TLL1	7092	broad.mit.edu	37	4	166996085	166996085	+	Silent	SNP	G	G	A	rs115884871	byFrequency	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:166996085G>A	ENST00000061240.2	+	17	2891	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	TLL1_ENST00000507499.1_Silent_p.T771T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGTCAACACGATGGGGAGCT	0.383000													21	75					0	0	0.000229342	0	0
FRY	10129	broad.mit.edu	37	13	32818254	32818254	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:32818254C>T	ENST00000380250.3	+	47	7259	c.6763C>T	c.(6763-6765)Ctt>Ttt	p.L2255F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTACATGGACCTTTCTGTCGT	0.498000													13	45					0	0	0.000151284	0	0
ARID5A	10865	broad.mit.edu	37	2	97217381	97217381	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:97217381G>C	ENST00000454558.2	+	7	2089	c.912G>C	c.(910-912)ttG>ttC	p.L304F	ARID5A_ENST00000357485.3_Missense_Mutation_p.L372F			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.L372L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GGGTGCTATTGGGGCCTCCTG	0.587000													5	8					0	0	3.59834e-05	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702305	27702305	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:27702305C>T	ENST00000438700.3	-	1	992	c.875G>A	c.(874-876)aGg>aAg	p.R292K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	292					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAGGGGATGCCTGCCGTGGTT	0.627000													12	44					0	0	0.000219431	0	0
KLHL32	114792	broad.mit.edu	37	6	97562162	97562162	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:97562162C>T	ENST00000369261.4	+	7	1494	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Silent_p.S341S|KLHL32_ENST00000539200.1_Silent_p.S308S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	377										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GCAGTAATTCCTGGGCAGAGA	0.572000													7	23					0	0	8.12818e-05	0	0
FLG	2312	broad.mit.edu	37	1	152278666	152278666	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152278666C>T	ENST00000368799.1	-	3	8731	c.8696G>A	c.(8695-8697)gGa>gAa	p.G2899E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2899	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)			TTCTGAATGTCCCTCACTGTC	0.567000									Ichthyosis				25	248					0	0	0.000228196	0	0
MYO9A	4649	broad.mit.edu	37	15	72190967	72190967	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:72190967G>A	ENST00000356056.5	-	25	4349	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	MYO9A_ENST00000424560.1_Missense_Mutation_p.R1293C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1274C|MYO9A_ENST00000566885.1_Missense_Mutation_p.R913C|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1293C|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1293	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAGAGAACGAACTTTCAGC	0.463000													21	52					0	0	0.000295444	0	0
MPO	4353	broad.mit.edu	37	17	56355339	56355339	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:56355339C>T	ENST00000340482.3	-	6	1325	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	MPO_ENST00000225275.3_Silent_p.R351R|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	351					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGCGCAGGTTCCTGGCCAGGG	0.637000													13	38					0	0	0.000151284	0	0
SYNE1	23345	broad.mit.edu	37	6	152809609	152809609	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:152809609C>T	ENST00000367255.5	-	12	1570	c.969G>A	c.(967-969)atG>atA	p.M323I	SYNE1_ENST00000265368.4_Missense_Mutation_p.M323I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M330I|SYNE1_ENST00000367248.3_Missense_Mutation_p.M313I|SYNE1_ENST00000341594.5_Missense_Mutation_p.M323I|SYNE1_ENST00000367253.4_Missense_Mutation_p.M323I|SYNE1_ENST00000413186.2_Missense_Mutation_p.M323I|SYNE1_ENST00000466159.2_Missense_Mutation_p.M323I|SYNE1_ENST00000423061.1_Missense_Mutation_p.M330I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	323					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAACTTTCATTTCCTTAA	0.303000										HNSCC(10;0.0054)			15	29					0	0	0.000566183	0	0
MYO18B	84700	broad.mit.edu	37	22	26423117	26423117	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:26423117G>A	ENST00000335473.7	+	43	7427	c.7177G>A	c.(7177-7179)Gat>Aat	p.D2393N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D2394N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2393N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2393						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						CTCTGTGGACGATGCGGGCTG	0.597000													11	32					0	0	3.86212e-05	0	0
KRT37	8688	broad.mit.edu	37	17	39578598	39578598	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:39578598C>T	ENST00000225550.3	-	4	820	c.821G>A	c.(820-822)gGg>gAg	p.G274E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	274	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCGCATCTCCCCCAACACCCT	0.572000													38	89					0	0	0.000191422	0	0
GPR39	2863	broad.mit.edu	37	2	133175423	133175423	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:133175423G>A	ENST00000329321.3	+	1	1277	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	270						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGAAGTCCGAGAGCGAAGA	0.617000													17	57					0	0	0.000132079	0	0
TRAPPC2L	51693	broad.mit.edu	37	16	88926378	88926378	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr16:88926378C>T	ENST00000565504.1	+	4	396	c.372C>T	c.(370-372)tcC>tcT	p.S124S	TRAPPC2L_ENST00000568583.1_Silent_p.S124S|TRAPPC2L_ENST00000567895.1_Silent_p.S94S|TRAPPC2L_ENST00000301021.3_Silent_p.S124S|TRAPPC2L_ENST00000564365.1_Silent_p.S43S|TRAPPC2L_ENST00000567312.1_Silent_p.S94S|TRAPPC2L_ENST00000561840.1_Silent_p.S114S			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	124					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCATCCAGTCCAGGTGGGCCC	0.498000													9	24					0	0	0.000274275	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894629	47894629	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:47894629C>T	ENST00000289672.2	-	30	4760	c.4710G>A	c.(4708-4710)agG>agA	p.R1570R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1570	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTTATTTCTCCTATTATCCT	0.358000													12	46					0	0	0.000219431	0	0
SMARCD1	6602	broad.mit.edu	37	12	50484051	50484051	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:50484051C>T	ENST00000394963.4	+	8	1299	c.901C>T	c.(901-903)Cta>Tta	p.L301L	SMARCD1_ENST00000381513.4_Silent_p.L301L|SMARCD1_ENST00000548573.1_Silent_p.L99L	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	301	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AGACCCCCGCCTAGCTCGACT	0.498000													31	70					0	0	0.000132358	0	0
KLHL32	114792	broad.mit.edu	37	6	97562161	97562161	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:97562161C>T	ENST00000369261.4	+	7	1493	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.S341F|KLHL32_ENST00000539200.1_Missense_Mutation_p.S308F	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	377										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGCAGTAATTCCTGGGCAGAG	0.567000													7	24					0	0	8.12818e-05	0	0
TSSC2	650368	broad.mit.edu	37	11	3423861	3423861	+	RNA	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:3423861C>T	ENST00000529482.1	+	0	705																											GACCCAGACACGGAGCGGTCG	0.657000													6	10					0	0	8.12818e-05	0	0
ABCB5	340273	broad.mit.edu	37	7	20683156	20683156	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:20683156G>A	ENST00000404938.2	+	7	1231	c.579G>A	c.(577-579)tcG>tcA	p.S193S		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	379					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTACTTTTTCGATTGGCCTGG	0.428000													22	86					0	0	0.000229342	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170181	207170181	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:207170181C>T	ENST00000374423.3	+	5	1315	c.929C>T	c.(928-930)cCg>cTg	p.P310L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	310							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCAGTAAACCCGAATAAAACT	0.373000													8	45					0	0	0.000274275	0	0
LIF	3976	broad.mit.edu	37	22	30639731	30639731	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:30639731G>A	ENST00000249075.3	-	3	673	c.518C>T	c.(517-519)tCg>tTg	p.S173L	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	173					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			ATCCTTACCCGAGGTGTCAGG	0.597000													12	56					0	0	0.000151284	0	0
TEX2	55852	broad.mit.edu	37	17	62290901	62290901	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:62290901G>A	ENST00000258991.3	-	2	761	c.677C>T	c.(676-678)tCc>tTc	p.S226F	TEX2_ENST00000583097.1_Missense_Mutation_p.S226F|TEX2_ENST00000584379.1_Missense_Mutation_p.S226F			Q8IWB9	TEX2_HUMAN	testis expressed 2	226					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCTGCCGGGAAGTGTCCGT	0.527000													25	68					0	0	0.000117367	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449585	105449585	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:105449585G>A	ENST00000337685.2	+	5	945	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E54K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E54K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	54										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGACAGCACAGAAACAAAGAT	0.388000													8	11					0	0	0.000157383	0	0
SCN2A	6326	broad.mit.edu	37	2	166221774	166221774	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:166221774G>A	ENST00000375437.2	+	18	3810		c.e18+1		SCN2A_ENST00000375427.2_Splice_Site|SCN2A_ENST00000357398.3_Splice_Site|SCN2A_ENST00000283256.6_Splice_Site	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTACAGAAGGTAAGCAAAAC	0.408000													17	44					0	0	0.000175454	0	0
ZFP64	55734	broad.mit.edu	37	20	50701658	50701658	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:50701658G>A	ENST00000361387.2	-	9	1436	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	ZFP64_ENST00000371523.4_Missense_Mutation_p.S240L|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	442					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						GCGGATGTGCGATTTGAGATT	0.597000													22	51					0	0	0.000375601	0	0
NSUN7	79730	broad.mit.edu	37	4	40810384	40810384	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:40810384C>T	ENST00000381782.2	+	12	2080	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCCAAGGGTCTGCTGGATGG	0.433000													15	55					0	0	0.000422831	0	0
CAMK1D	57118	broad.mit.edu	37	10	12870848	12870848	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:12870848C>T	ENST00000378847.3	+	11	1457	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	374						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAGACCCAGGCCCACCACTGT	0.647000													49	179					0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9077726	9077726	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:9077726G>A	ENST00000397910.4	-	3	9923	c.9720C>T	c.(9718-9720)acC>acT	p.T3240T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3241	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						GTTCCACTGTGGTCTCCATGG	0.527000													44	118					0	0	0.000147903	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73961560	73961560	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:73961560C>T	ENST00000476977.1	+	17	3551	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	GTF2IRD1_ENST00000424337.2_Silent_p.I620I|GTF2IRD1_ENST00000265755.3_Silent_p.I620I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.I652I			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	620						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCTTCGGGATCGCCAAGCTCC	0.592000													8	16					0	0	0.000442599	0	0
CCDC141	285025	broad.mit.edu	37	2	179702043	179702043	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179702043G>A	ENST00000420890.2	-	23	4020	c.3903C>T	c.(3901-3903)acC>acT	p.T1301T	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.T726T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	726							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCTCTGGAGGTTAGTGGGG	0.468000													18	66					0	0	0.000229342	0	0
AGTR1	185	broad.mit.edu	37	3	148459531	148459531	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:148459531G>A	ENST00000542281.1	+	4	1155	c.709G>A	c.(709-711)Gat>Aat	p.D237N	AGTR1_ENST00000418473.2_Missense_Mutation_p.D237N|AGTR1_ENST00000402260.1_Missense_Mutation_p.D237N|AGTR1_ENST00000461609.1_Missense_Mutation_p.D237N|AGTR1_ENST00000349243.3_Missense_Mutation_p.D237N|AGTR1_ENST00000474935.1_Missense_Mutation_p.D237N|AGTR1_ENST00000404754.2_Missense_Mutation_p.D237N|AGTR1_ENST00000497524.1_Missense_Mutation_p.D237N|AGTR1_ENST00000475347.1_Missense_Mutation_p.D237N	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	237					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAGAAATGATGATATTTTTAA	0.323000													15	55					0	0	9.7654e-05	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936987	119936987	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:119936987C>T	ENST00000297350.4	-	5	1210	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	278	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACGCTGTTTTCACAGAGGTCA	0.448000													14	50					0	0	0.000308642	0	0
OPRK1	4986	broad.mit.edu	37	8	54142243	54142243	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:54142243G>A	ENST00000265572.3	-	4	1054	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.L164F|OPRK1_ENST00000520287.1_Missense_Mutation_p.L253F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	253					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACGCTCTTGAGACGCAGGATC	0.557000													18	42					0	0	0.000295444	0	0
RTP4	64108	broad.mit.edu	37	3	187089057	187089057	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:187089057G>T	ENST00000259030.2	+	2	747	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	213					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TAAGGGGAGTGGGTATGAGAA	0.463000													7	22					5.18039e-06	0.00010481	0.000157383	1	0
DEFB127	140850	broad.mit.edu	37	20	139486	139486	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:139486G>A	ENST00000382388.3	+	2	196	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	41					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAGAGTAAATGAAGTGCCTGA	0.398000													5	26					0	0	3.59834e-05	0	0
AVPR1B	553	broad.mit.edu	37	1	206225010	206225010	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:206225010C>T	ENST00000367126.4	+	1	1035	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	190					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGGCAGACTTCGGCTTCCCTT	0.632000													26	61					0	0	0.000117367	0	0
ARMC8	25852	broad.mit.edu	37	3	137956328	137956328	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:137956328G>T	ENST00000469044.1	+	9	961	c.690G>T	c.(688-690)ttG>ttT	p.L230F	ARMC8_ENST00000489213.1_Missense_Mutation_p.L188F|ARMC8_ENST00000358441.2_Missense_Mutation_p.L216F|ARMC8_ENST00000461822.1_Missense_Mutation_p.L230F|ARMC8_ENST00000471453.1_Missense_Mutation_p.L216F|ARMC8_ENST00000491704.1_Missense_Mutation_p.L188F|ARMC8_ENST00000538260.1_Missense_Mutation_p.L199F|ARMC8_ENST00000470821.1_Missense_Mutation_p.L230F|ARMC8_ENST00000485396.1_Missense_Mutation_p.L157F|ARMC8_ENST00000393058.3_Missense_Mutation_p.L220F|ARMC8_ENST00000481646.1_Missense_Mutation_p.L216F	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	230							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTCTAGTTTTGGTTGATGGAG	0.348000													10	418					2.80697e-09	5.74753e-08	6.40141e-05	1	0
PTPRF	5792	broad.mit.edu	37	1	44072118	44072118	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:44072118C>T	ENST00000359947.4	+	20	4031	c.3691C>T	c.(3691-3693)Ccc>Tcc	p.P1231S	PTPRF_ENST00000372414.3_Missense_Mutation_p.P1231S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1222S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.P579S|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1222S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1231					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTGAAGGAACCCATGGACCA	0.592000													31	91					0	0	0.000132358	0	0
PCDH15	65217	broad.mit.edu	37	10	55955504	55955504	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:55955504G>A	ENST00000373965.2	-	11	1638	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	PCDH15_ENST00000373955.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395446.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395432.2_Missense_Mutation_p.S378L|PCDH15_ENST00000320301.6_Missense_Mutation_p.S415L|PCDH15_ENST00000361849.3_Missense_Mutation_p.S415L|PCDH15_ENST00000437009.1_Missense_Mutation_p.S415L|PCDH15_ENST00000414778.1_Missense_Mutation_p.S420L|PCDH15_ENST00000373957.3_Missense_Mutation_p.S393L|PCDH15_ENST00000395430.1_Missense_Mutation_p.S415L|PCDH15_ENST00000409834.1_Missense_Mutation_p.S19L|PCDH15_ENST00000395433.1_Missense_Mutation_p.S393L|PCDH15_ENST00000395440.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395438.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395445.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	415	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGACTGTCCGAAATGGTTGC	0.373000										HNSCC(58;0.16)			22	67					0	0	9.22233e-05	0	0
KRT31	3881	broad.mit.edu	37	17	39551875	39551875	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:39551875C>T	ENST00000251645.2	-	4	641	c.588_splice	c.e4-1	p.E197_splice		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	197	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GTATTGACCTCCTATGGATGC	0.493000													9	25					0	0	3.86212e-05	0	0
NEMF	9147	broad.mit.edu	37	14	50298965	50298965	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:50298965G>A	ENST00000298310.5	-	9	1215	c.766C>T	c.(766-768)Cca>Tca	p.P256S	NEMF_ENST00000545773.1_Missense_Mutation_p.P214S|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.P256S			O60524	NEMF_HUMAN	nuclear export mediator factor	256						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCCAAGCTTGGTTTTATTTCT	0.299000													12	64					0	0	0.000219431	0	0
ADARB2	105	broad.mit.edu	37	10	1262994	1262994	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:1262994C>T	ENST00000381312.1	-	7	1904	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	527	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACCGTCCCTTCCCCGGACTCG	0.647000													5	10					0	0	3.59834e-05	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87445545	87445545	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:87445545G>A	ENST00000338056.3	+	11	1655	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.G349E|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.G398E	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	415										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAAGGAGATGGAAAACAAGAC	0.358000													13	27					0	0	0.00010058	0	0
SLC45A4	57210	broad.mit.edu	37	8	142221650	142221650	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:142221650A>T	ENST00000024061.3	-	8	2595	c.2288T>A	c.(2287-2289)tTc>tAc	p.F763Y	SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000517878.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTCGCTGAGGAAAAGAAGATA	0.493000													36	118					0	0	0.000509022	0	0
HNRNPK	3190	broad.mit.edu	37	9	86588850	86588850	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:86588850G>A	ENST00000376263.3	-	8	592	c.369C>T	c.(367-369)ctC>ctT	p.L123L	HNRNPK_ENST00000351839.3_Silent_p.L123L|HNRNPK_ENST00000360384.5_Silent_p.L123L|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Silent_p.L123L|HNRNPK_ENST00000376264.2_Silent_p.L123L	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	123	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ATTCGAGCGGGAGCTGGCTGG	0.458000													9	33					0	0	6.40141e-05	0	0
HBE1	3046	broad.mit.edu	37	11	5290859	5290859	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:5290859C>T	ENST00000380237.1	-	4	484	c.140G>A	c.(139-141)gGa>gAa	p.G47E	HBE1_ENST00000292896.2_Missense_Mutation_p.G47E|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	47					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGACAGGTTTCCAAAGCTGTC	0.453000													17	50					0	0	0.000229342	0	0
FLG	2312	broad.mit.edu	37	1	152284501	152284501	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152284501C>T	ENST00000368799.1	-	3	2896	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	954	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)			TTCTGAATGTCCCTCACTGTC	0.572000									Ichthyosis				10	269					0	0	0.000566183	0	0
PTPRB	5787	broad.mit.edu	37	12	70986321	70986321	+	Silent	SNP	G	G	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:70986321G>T	ENST00000334414.6	-	7	1565	c.1521C>A	c.(1519-1521)ccC>ccA	p.P507P	PTPRB_ENST00000538708.1_Silent_p.P289P|PTPRB_ENST00000550857.1_Silent_p.P289P|PTPRB_ENST00000550358.1_Silent_p.P507P|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Silent_p.P289P|PTPRB_ENST00000451516.2_Silent_p.P289P|PTPRB_ENST00000551525.1_Silent_p.P506P	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	289	Fibronectin type-III 6.				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)			AGACTTCCATGGGGGCTAATC	0.403000													23	39					3.01185e-09	6.14851e-08	0.000586117	1	0
PKDREJ	10343	broad.mit.edu	37	22	46658038	46658038	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:46658038C>T	ENST00000253255.5	-	1	1181	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	394	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTTCCTTGCTCCCCAGGATTA	0.562000													21	70					0	0	0.00047179	0	0
ITIH2	3698	broad.mit.edu	37	10	7786092	7786092	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:7786092G>A	ENST00000358415.4	+	18	2423	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ITIH2_ENST00000379587.4_Missense_Mutation_p.G742R	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	753					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCCCAACAATGGAAAACTAAG	0.388000													17	25					0	0	9.7654e-05	0	0
SPAG17	200162	broad.mit.edu	37	1	118550793	118550793	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:118550793C>T	ENST00000336338.5	-	31	4526	c.4461G>A	c.(4459-4461)caG>caA	p.Q1487Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1487						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TACACTTCACCTGCCTGGTGA	0.488000													7	36					0	0	0.000157383	0	0
ABCC9	10060	broad.mit.edu	37	12	21954097	21954097	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:21954097G>A	ENST00000261200.4	-	38	4530	c.4531C>T	c.(4531-4533)Ctg>Ttg	p.L1511L		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1511	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGCCGTCAGAATAGTGTGT	0.378000													21	45					0	0	0.000117367	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325337	47325337	+	RNA	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:47325337G>A	ENST00000505841.1	-	0	1192					NR_002788.2																						TGCAGGTAAGGAGCGTCCATC	0.403000													13	61					0	0	0.000566183	0	0
TACC2	10579	broad.mit.edu	37	10	123971035	123971035	+	Silent	SNP	A	A	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:123971035A>G	ENST00000369005.1	+	9	7435	c.7095A>G	c.(7093-7095)caA>caG	p.Q2365Q	TACC2_ENST00000515273.1_Silent_p.Q2369Q|TACC2_ENST00000515603.1_Silent_p.Q2320Q|TACC2_ENST00000369001.1_Silent_p.Q69Q|TACC2_ENST00000334433.3_Silent_p.Q2365Q|TACC2_ENST00000453444.2_Silent_p.Q2369Q|TACC2_ENST00000369000.1_Silent_p.Q69Q|TACC2_ENST00000513429.1_Silent_p.Q511Q|TACC2_ENST00000369004.3_Silent_p.Q443Q|TACC2_ENST00000358010.1_Silent_p.Q511Q|TACC2_ENST00000368999.1_Silent_p.Q443Q|TACC2_ENST00000260733.3_Silent_p.Q443Q|TACC2_ENST00000360561.3_Silent_p.Q443Q	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2365	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCCCAACAATCATACAACT	0.463000													55	147					0	0	0.000147903	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036637	13036637	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:13036637C>T	ENST00000376187.1	+	2	709	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	237										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GAGGAATCTTCGCAAACTCTT	0.473000													25	195					0	0	0.000339439	0	0
ARID5A	10865	broad.mit.edu	37	2	97217379	97217379	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:97217379T>A	ENST00000454558.2	+	7	2087	c.910T>A	c.(910-912)Ttg>Atg	p.L304M	ARID5A_ENST00000357485.3_Missense_Mutation_p.L372M			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGGGGTGCTATTGGGGCCTCC	0.592000													5	9					0	0	3.59834e-05	0	0
DGKE	8526	broad.mit.edu	37	17	54939580	54939580	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:54939580C>T	ENST00000284061.3	+	11	1672	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	498					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ACTGGCTAATCCTTTTCGAAT	0.393000													8	38					0	0	6.40141e-05	0	0
COL7A1	1294	broad.mit.edu	37	3	48613092	48613092	+	Silent	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:48613092C>T	ENST00000328333.8	-	72	6053	c.5946G>A	c.(5944-5946)ggG>ggA	p.G1982G	COL7A1_ENST00000454817.1_Silent_p.G1950G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1982	Triple-helical region.		G -> W (in HS-DEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCCTGAGTCCCCCTTGGGGC	0.647000													5	37					0	0	3.59834e-05	0	0
ITGA4	3676	broad.mit.edu	37	2	182360646	182360646	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:182360646G>A	ENST00000397033.2	+	14	1952	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	508					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAGGGCAAGGAAGTTCCAGG	0.443000													17	64					0	0	0.000229342	0	0
SLC9C2	284525	broad.mit.edu	37	1	173499164	173499164	+	Silent	SNP	T	T	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:173499164T>A	ENST00000367714.3	-	18	2615	c.2193A>T	c.(2191-2193)gcA>gcT	p.A731A	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	731					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCTGCACATCTGCAATTCTTA	0.343000													16	46					0	0	0.000422831	0	0
JAG1	182	broad.mit.edu	37	20	10629243	10629243	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:10629243C>T	ENST00000254958.5	-	12	2038	c.1523G>A	c.(1522-1524)aGa>aAa	p.R508K	JAG1_ENST00000423891.2_Missense_Mutation_p.R349K	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	508	EGF-like 8; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACACTGGAATCTGTTGATTTC	0.512000									Alagille Syndrome				12	31					0	0	0.000151284	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170180	207170180	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:207170180C>T	ENST00000374423.3	+	5	1314	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	310							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCAGTAAACCCGAATAAAAC	0.373000													8	43					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179613640	179613640	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179613640G>A	ENST00000360870.5	-	46	13709	c.13487C>T	c.(13486-13488)tCa>tTa	p.S4496L	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	626	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)			TTGCTTTAATGAAAAGGCTTT	0.318000													18	71					0	0	7.07596e-05	0	0
CDH20	28316	broad.mit.edu	37	18	59174790	59174790	+	Silent	SNP	G	G	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:59174790G>A	ENST00000262717.4	+	6	1412	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	CDH20_ENST00000536675.2_Silent_p.K338K|CDH20_ENST00000538374.1_Silent_p.K338K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	338	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TAACTGTGAAGAAGGTAATCC	0.368000													7	40					0	0	0.000157383	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													7	218	---	---	---	---					
JAK2	3717	broad.mit.edu	37	9	5055745	5055745	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:5055745delA	ENST00000381652.3	+	8	1507	c.1013delA	c.(1012-1014)gafs	p.E338fs	JAK2_ENST00000544510.1_Frame_Shift_Del_p.E189fs|JAK2_ENST00000539801.1_Frame_Shift_Del_p.E338fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	338	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGTTCAAATGAAAGCCGAGTT	0.294		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				11	24	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													3	3	---	---	---	---					
ABCC6P1	653190	broad.mit.edu	37	16	18593648	18593649	+	RNA	INS	-	-	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr16:18593648_18593649insA	ENST00000546162.2	+	0	805					NR_003569.1																						accctgtctcgaaaaaaaaaaa	0.505													3	6	---	---	---	---					
LOC101060604	101060604	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													2	4	---	---	---	---					
