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
MARK3	4140	broad.mit.edu	37	14	103933457	103933457	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr14:103933457G>C	ENST00000429436.2	+	11	1549	c.1039G>C	c.(1039-1041)Gaa>Caa	p.E347Q	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.E268Q|MARK3_ENST00000553942.1_Missense_Mutation_p.E347Q|MARK3_ENST00000303622.9_Missense_Mutation_p.E347Q|MARK3_ENST00000416682.2_Missense_Mutation_p.E370Q|MARK3_ENST00000335102.5_Missense_Mutation_p.E370Q|MARK3_ENST00000216288.7_Missense_Mutation_p.E347Q	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	347	UBA.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGAAATTCAAGAATCTCTTAG	0.323000													20	39					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15758664	15758664	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr16:15758664C>G	ENST00000396355.1	+	3	855	c.29C>G	c.(28-30)tCc>tGc	p.S10C	NDE1_ENST00000342673.5_Missense_Mutation_p.S10C|NDE1_ENST00000396354.1_Missense_Mutation_p.S10C|NDE1_ENST00000396353.2_Missense_Mutation_p.S10C	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	10	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTTTCAGCTCCGAGGAGGAA	0.438000													5	74					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897828	23897828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr14:23897828G>A	ENST00000355349.3	-	15	1621	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	487	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGAAGAACTGCTGCAGCTTC	0.542000													15	26					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040705	88040705	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr3:88040705G>C	ENST00000319595.4	+	1	860	c.806G>C	c.(805-807)aGg>aCg	p.R269T		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	269					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGAAGTCTCAGGTCTGAATTC	0.398000													14	20					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35468568	35468568	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr17:35468568G>C	ENST00000353139.5	-	52	6944	c.6463C>G	c.(6463-6465)Ctg>Gtg	p.L2155V	ACACA_ENST00000335166.5_Missense_Mutation_p.L2040V|ACACA_ENST00000360679.3_Missense_Mutation_p.L2060V|ACACA_ENST00000394406.2_Missense_Mutation_p.L2118V|ACACA_ENST00000361253.5_Missense_Mutation_p.L244V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2118	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTGGCTCCAGAACAGATCCC	0.448000													14	18					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	302509	302509	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:302509C>T	ENST00000428720.1	-	14	2207	c.1464G>A	c.(1462-1464)atG>atA	p.M488I	RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Missense_Mutation_p.M488I|SLC6A12_ENST00000424061.2_Missense_Mutation_p.M488I|SLC6A12_ENST00000397296.2_Missense_Mutation_p.M488I|SLC6A12_ENST00000359674.4_Missense_Mutation_p.M488I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	488					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGTAGCCAATCATGTCCTCAA	0.587000													30	27					0	0	1	0	0
RAB13	5872	broad.mit.edu	37	1	153958590	153958590	+	Splice_Site	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:153958590G>A	ENST00000368575.3	-	1	238	c.123C>T	c.(121-123)atC>atT	p.I41I	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	41					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	p.I41I(2)		breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGGCTCACCGATGGTGGAGA	0.552000													30	10					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168347444	168347444	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr6:168347444A>T	ENST00000366806.2	+	27	3537	c.3395A>T	c.(3394-3396)tAt>tTt	p.Y1132F	MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000400822.3_Missense_Mutation_p.Y1131F|MLLT4_ENST00000344191.4_Missense_Mutation_p.Y1132F|MLLT4_ENST00000447894.2_Missense_Mutation_p.Y1132F|MLLT4_ENST00000392108.3_Missense_Mutation_p.Y1132F|MLLT4_ENST00000392112.1_Missense_Mutation_p.Y1115F|MLLT4_ENST00000351017.4_Missense_Mutation_p.Y1139F			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1132					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTGAGCTCTATAATAATTCA	0.413000			T	MLL	AL								13	35					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130203	34130203	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr15:34130203G>A	ENST00000389232.4	+	89	12092	c.12022G>A	c.(12022-12024)Gat>Aat	p.D4008N	RYR3_ENST00000415757.3_Missense_Mutation_p.D4003N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4008					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		CATGCCAAACGATTCCCGCCT	0.463000													43	52					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70052399	70052399	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:70052399G>C	ENST00000301838.4	+	2	744	c.447G>C	c.(445-447)aaG>aaC	p.K149N	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	149	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAATCTGGAAGAACACAGAGA	0.572000													155	40					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56567554	56567554	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:56567554G>C	ENST00000394023.3	-	17	1681	c.1576C>G	c.(1576-1578)Ccg>Gcg	p.P526A	SMARCC2_ENST00000550164.1_Missense_Mutation_p.P526A|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P526A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P526A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	526					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAGGTAGGCGGAGGCCCCATT	0.577000													67	72					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12017953	12017953	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:12017953G>A	ENST00000196061.4	+	8	823	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	PLOD1_ENST00000376369.3_Missense_Mutation_p.G313S|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	266					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTCGAAACAGGCTGCACCGT	0.647000													43	59					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323882	88323882	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:88323882C>G	ENST00000418177.2	-	7	1944	c.1577G>C	c.(1576-1578)gGa>gCa	p.G526A	GRM5_ENST00000455756.2_Missense_Mutation_p.G526A|GRM5_ENST00000393297.1_Missense_Mutation_p.G526A|GRM5_ENST00000305432.5_Missense_Mutation_p.G526A|GRM5_ENST00000305447.4_Missense_Mutation_p.G526A			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	526					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGACTTCTCCCTTTCGGAT	0.393000													16	23					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670623	134670623	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr3:134670623G>A	ENST00000398015.3	+	3	904	c.534G>A	c.(532-534)caG>caA	p.Q178Q	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	178						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCGCTTTTCAGGATTATGGAG	0.463000													61	98					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	309844	309844	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:309844G>C	ENST00000428720.1	-	7	1427	c.684C>G	c.(682-684)atC>atG	p.I228M	SLC6A12_ENST00000536824.1_Missense_Mutation_p.I228M|SLC6A12_ENST00000424061.2_Missense_Mutation_p.I228M|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.I228M|SLC6A12_ENST00000359674.4_Missense_Mutation_p.I228M	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	228					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCCCCTTCCAGATGCAGAAAT	0.627000													51	72					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149252	50149252	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:50149252T>C	ENST00000404971.1	-	24	5813	c.4474A>G	c.(4474-4476)Atg>Gtg	p.M1492V	NRXN1_ENST00000405472.3_Missense_Mutation_p.M1444V|NRXN1_ENST00000401710.1_Missense_Mutation_p.M440V|NRXN1_ENST00000406316.2_Missense_Mutation_p.M1422V|NRXN1_ENST00000401669.2_Missense_Mutation_p.M1452V|NRXN1_ENST00000402717.3_Missense_Mutation_p.M1444V|NRXN1_ENST00000342183.5_Missense_Mutation_p.M387V|NRXN1_ENST00000406859.3_Missense_Mutation_p.M1422V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1422					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACTTGTACATGGCATAGAGG	0.532000													28	40					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54371913	54371913	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:54371913C>T	ENST00000361921.3	+	3	651	c.627C>T	c.(625-627)taC>taT	p.Y209Y	DIO1_ENST00000532493.1_Intron|DIO1_ENST00000524406.1_Silent_p.Y80Y|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000388876.3_Silent_p.Y161Y|DIO1_ENST00000525202.1_Silent_p.Y145Y	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	209					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCCAGCTCTACGCAGCACTGC	0.637000													17	22					0	0	1	0	0
ASF1A	25842	broad.mit.edu	37	6	119221966	119221966	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr6:119221966G>A	ENST00000229595.5	+	2	339	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	49	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GGGCTCTGCAGAAAGTGAAGA	0.353000													29	33					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104492032	104492032	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr14:104492032C>T	ENST00000409874.4	+	26	2898	c.2850C>T	c.(2848-2850)gtC>gtT	p.V950V	TDRD9_ENST00000339063.5_Silent_p.V950V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	950	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGACTTGGTCTGTCTGGCAC	0.428000													6	108					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281955	49281955	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr13:49281955C>T	ENST00000282018.3	+	1	1005	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	334					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGTGTGTTTTCCCTGTTAGTG	0.418000													17	25					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389587	1389587	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr4:1389587C>T	ENST00000324803.4	+	1	4248	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	430	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.R430C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTTTTTAATACGTTTTTATGT	0.443000													20	34					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026566	197026566	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:197026566G>A	ENST00000367412.1	-	6	878	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	279	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTTATGGGCAGAGGTGGAGGA	0.308000													4	62					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46269245	46269245	+	Silent	SNP	C	C	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr19:46269245C>A	ENST00000317578.6	-	3	2115	c.1734G>T	c.(1732-1734)ccG>ccT	p.P578P	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	578						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGGGGGCTGGCGGCAGGACCT	0.701000													3	24					6.4e-05	6.4e-05	1	1	0
MUL1	79594	broad.mit.edu	37	1	20827462	20827462	+	Silent	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:20827462C>G	ENST00000264198.3	-	4	916	c.780G>C	c.(778-780)cgG>cgC	p.R260R		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	260					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GATACTGCTTCCGGAGAATGA	0.617000													27	43					0	0	1	0	0
ASGR1	432	broad.mit.edu	37	17	7080603	7080603	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr17:7080603C>G	ENST00000269299.3	-	3	512	c.113G>C	c.(112-114)gGa>gCa	p.G38A	ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000574388.1_Intron	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	38					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GAGGCGAGGTCCGGAGCAGAG	0.682000											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	50					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141053204	141053204	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr5:141053204G>A	ENST00000239440.4	-	5	935	c.870C>T	c.(868-870)ctC>ctT	p.L290L	ARAP3_ENST00000508305.1_Silent_p.L212L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	290	PH 1.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCCAGCCACTGAGCAGGGGCG	0.622000													40	56					0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57857881	57857881	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr14:57857881A>G	ENST00000556492.1	+	2	360	c.206A>G	c.(205-207)cAt>cGt	p.H69R	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	69						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GCCAAGGGGCATCCGTGCCTC	0.721000													16	19					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44102070	44102070	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr15:44102070C>T	ENST00000267812.3	-	7	1162	c.930G>A	c.(928-930)ctG>ctA	p.L310L		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	310						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTTCCTCAGTCAGGTTTCGCA	0.423000													39	62					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049190	70049190	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:70049190C>T	ENST00000330891.5	-	10	1730	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.E396K|BEST3_ENST00000488961.1_Missense_Mutation_p.E289K	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	502						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCAATACCTCAGGTACCAGT	0.547000													45	78					0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45912504	45912504	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr19:45912504G>A	ENST00000309424.3	+	3	1766	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.K428K|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	426	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaagaagaagaaagaga	0.577000													16	26					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348062	131348062	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr9:131348062C>A	ENST00000358161.5	+	19	2709	c.2596C>A	c.(2596-2598)Cac>Aac	p.H866N	SPTAN1_ENST00000372739.3_Missense_Mutation_p.H866N|SPTAN1_ENST00000372731.4_Missense_Mutation_p.H866N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	866					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCCAAGCTTCACGAGCTGAA	0.512000													20	6					1.00905e-13	1.04354e-13	1	1	0
ACVRL1	94	broad.mit.edu	37	12	52307131	52307131	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:52307131G>C	ENST00000550683.1	+	2	453	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	ACVRL1_ENST00000388922.4_Missense_Mutation_p.E104Q|ACVRL1_ENST00000419526.2_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	104					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTGGTGCTGGAGGGTACGTC	0.627000													10	11					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69732795	69732795	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:69732795G>A	ENST00000409085.4	-	16	2551	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P	AAK1_ENST00000406297.3_Silent_p.P725P|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	725			P -> T (in dbSNP:rs35285785).			coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CAAGCTTCTCGGGATGTTTGC	0.488000													5	9					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101433766	101433766	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:101433766C>T	ENST00000392979.3	+	10	1187	c.826C>T	c.(826-828)Cat>Tat	p.H276Y	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.H311Y	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	311						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						CATTCGAACCCATGGAGCAGA	0.438000										HNSCC(74;0.22)			34	53					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96201736	96201736	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr10:96201736C>T	ENST00000225235.4	+	2	1165	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	352						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AAAGTCCCTCCTAGAGAGAAT	0.378000													10	16					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089492	137089492	+	Silent	SNP	C	C	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr5:137089492C>A	ENST00000314940.4	-	1	547	c.264G>T	c.(262-264)tcG>tcT	p.S88S		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	88					nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGCCGCGCCGAATCCTCCC	0.652000													36	58					8.73648e-17	9.1923e-17	1	1	0
CYP27A1	1593	broad.mit.edu	37	2	219647116	219647116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:219647116C>T	ENST00000258415.4	+	1	638	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	71					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)	CTTCTTCTTTCAGCTGTTCGT	0.637000													22	25					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159179	18159179	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:18159179G>A	ENST00000396275.2	+	3	791	c.430G>A	c.(430-432)Gtc>Atc	p.V144I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	144						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGTCATGTGTGTCCTGCTCTG	0.567000													54	59					0	0	1	0	0
MED19	219541	broad.mit.edu	37	11	57472271	57472271	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:57472271C>T	ENST00000337672.2	-	3	512	c.491G>A	c.(490-492)cGt>cAt	p.R164H	MED19_ENST00000431606.2_Missense_Mutation_p.R164H	NM_153450.1	NP_703151.1	A0JLT2	MED19_HUMAN	mediator complex subunit 19	164					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						ATGCATCAGACGACACTGCTC	0.493000													13	48					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934614	30934614	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr19:30934614G>A	ENST00000355537.3	+	2	292	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E49K(1)		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)					TGCCTTCCCCGAGCTCCATCC	0.667000													8	110					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11725311	11725311	+	Missense_Mutation	SNP	C	C	A	rs80285040		TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:11725311C>A	ENST00000381486.2	+	8	1226	c.926C>A	c.(925-927)cCc>cAc	p.P309H	GREB1_ENST00000381483.2_Missense_Mutation_p.P309H|GREB1_ENST00000263834.5_Missense_Mutation_p.P309H|GREB1_ENST00000234142.5_Missense_Mutation_p.P309H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	309						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCGGGCCCCCCAAAAAACGC	0.498000													10	8					2.80697e-09	2.87834e-09	1	1	0
SHMT2	6472	broad.mit.edu	37	12	57626564	57626564	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:57626564C>T	ENST00000328923.3	+	7	1247	c.795C>T	c.(793-795)ccC>ccT	p.P265P	SHMT2_ENST00000449049.3_Silent_p.P244P|SHMT2_ENST00000553474.1_Silent_p.P244P|SHMT2_ENST00000557487.1_Silent_p.P255P|SHMT2_ENST00000393827.4_Silent_p.P169P|SHMT2_ENST00000414700.3_Silent_p.P244P	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	265						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGGTGATTCCCTCGCCTTTCA	0.607000													26	31					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763491	82763491	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chrX:82763491C>T	ENST00000373200.2	+	1	223	c.159C>T	c.(157-159)ctC>ctT	p.L53L	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	53					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGCATCCCCTCGGGCATCACT	0.637000													11	1					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740390	76740390	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:76740390C>G	ENST00000393262.3	-	2	1458	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	459					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTACCAGGATCTGGTGCTTGA	0.343000									Bardet-Biedl syndrome				16	19					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749524	80749524	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:80749524G>A	ENST00000458043.2	+	46	5581	c.5575G>A	c.(5575-5577)Gat>Aat	p.D1859N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1847N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCATGCACTGATAGTGAAGA	0.423000													10	13					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909633	123909633	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:123909633A>G	ENST00000330487.5	-	1	84	c.76T>C	c.(76-78)Ttt>Ctt	p.F26L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGATTCCAAAGAGGGGGGCG	0.567000													57	47					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65404049	65404049	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:65404049C>T	ENST00000355703.3	+	34	6320	c.5781C>T	c.(5779-5781)ctC>ctT	p.L1927L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1927	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGGGTCTCCTCAGTTCTGAGG	0.706000													5	9					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103934477	103934477	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr14:103934477G>C	ENST00000429436.2	+	12	1728	c.1218G>C	c.(1216-1218)caG>caC	p.Q406H	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.Q327H|MARK3_ENST00000553942.1_Missense_Mutation_p.Q406H|MARK3_ENST00000303622.9_Missense_Mutation_p.Q406H|MARK3_ENST00000416682.2_Missense_Mutation_p.Q429H|MARK3_ENST00000335102.5_Missense_Mutation_p.Q429H|MARK3_ENST00000216288.7_Missense_Mutation_p.Q390H	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	406							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACAAAGTGCAGAGAAGTGTTT	0.473000													13	34					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	175995745	175995745	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr5:175995745G>A	ENST00000510636.1	+	4	465	c.191G>A	c.(190-192)gGc>gAc	p.G64D	CDHR2_ENST00000261944.5_Missense_Mutation_p.G64D|CDHR2_ENST00000506348.1_Missense_Mutation_p.G64D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	64	Cadherin 1.			G -> S (in Ref. 1; BAB40777).	homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGATGAGCGGCCCCAATGCC	0.607000													35	40					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064342	73064342	+	RNA	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chrX:73064342G>A	ENST00000429829.1	-	0	8246					NR_001564.2																						AATAGGATAAGCCATGTGCAG	0.433000													15	2					0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108356954	108356954	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:108356954C>T	ENST00000434945.2	-	2	748	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	KDELC2_ENST00000323468.5_Missense_Mutation_p.R205Q|KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q|KDELC2_ENST00000532730.1_5'UTR			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	205						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAAGATCTCCGGTAAACATG	0.378000													22	28					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36372585	36372585	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:36372585A>C	ENST00000373204.4	+	12	1660	c.1447A>C	c.(1447-1449)Atc>Ctc	p.I483L	AGO1_ENST00000373206.1_Missense_Mutation_p.I408L	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GGGGATGCCTATCCAGGGTCA	0.522000													21	30					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20581656	20581656	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr18:20581656G>C	ENST00000399722.2	+	15	2602	c.2251G>C	c.(2251-2253)Gag>Cag	p.E751Q	RBBP8_ENST00000360790.5_Missense_Mutation_p.E756Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E751Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E751Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	751	Poly-Glu.				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGCAGATGAAGAGGAGGAATT	0.363000								Homologous recombination					20	29					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101451184	101451184	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr10:101451184G>A	ENST00000370489.4	+	8	930	c.752G>A	c.(751-753)aGa>aAa	p.R251K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	251						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCAGGACGGAGAAGGACAGTA	0.418000													15	13					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676094	33676094	+	RNA	SNP	C	C	G	rs7853346	by1000genomes	TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr9:33676094C>G	ENST00000532280.1	-	0	1403					NR_023917.1																						CTATAATCCACATGATTCTTT	0.423000													3	34					0	0	1	0	0
CCL22	6367	broad.mit.edu	37	16	57394368	57394368	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr16:57394368G>A	ENST00000219235.4	+	2	138	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	31					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity	p.M31I(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GCGCCAACATGGAAGACAGCG	0.642000													27	46					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108042009	108042009	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr6:108042009G>A	ENST00000369022.2	-	5	906	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	SCML4_ENST00000369020.3_Missense_Mutation_p.R291C|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C|SCML4_ENST00000369021.3_Missense_Mutation_p.R262C			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R262C(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGCTAGTGCGGGGACCACCA	0.637000													40	59					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897874	182897874	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr3:182897874C>G	ENST00000328913.3	-	28	3387	c.3090G>C	c.(3088-3090)gaG>gaC	p.E1030D	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E1030D	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1030					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAGCACTGCTCTCCTTTTCCA	0.507000													61	73					0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18833880	18833880	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr17:18833880G>A	ENST00000268835.2	+	12	1262	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	PRPSAP2_ENST00000542013.1_Missense_Mutation_p.E278K|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.E241K|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.E287K	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	327					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AATTCCACATGAAGTCCAGAA	0.458000													16	33					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909142	32909142	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr7:32909142G>A	ENST00000304056.4	-	4	2386	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	563										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGCTGCCGCAGAGACCACCGG	0.468000													29	33					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42189183	42189183	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr13:42189183G>A	ENST00000379310.3	-	38	4717	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTGTTTGGGGGAGCTTACATC	0.493000													6	34					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567773	5567773	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr7:5567773G>A	ENST00000331789.5	-	5	1037	c.846C>T	c.(844-846)atC>atT	p.I282I	AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	282					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CACACTTCATGATGGAGTTGA	0.567000													59	69					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131355317	131355317	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr9:131355317G>C	ENST00000358161.5	+	23	3324	c.3211G>C	c.(3211-3213)Gaa>Caa	p.E1071Q	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1071Q|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1071Q			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1071					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGGTGGAAGAACTGTGAGT	0.532000													3	4					0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003193	23003193	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr8:23003193C>A	ENST00000312584.3	-	5	818	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	242					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAGCAGATGCCTTTGAGGTAA	0.507000													22	20					9.95505e-16	1.03841e-15	1	1	0
ATR	545	broad.mit.edu	37	3	142297509	142297509	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr3:142297509G>A	ENST00000350721.4	-	1	159	c.38C>T	c.(37-39)cCc>cTc	p.P13L	ATR_ENST00000383101.3_Missense_Mutation_p.P13L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	13					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCGCAGGGCGGGGATCATGGA	0.662000								Other conserved DNA damage response genes					11	11					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609957	81609957	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr14:81609957C>T	ENST00000541158.2	+	11	1877	c.1555C>T	c.(1555-1557)Cgc>Tgc	p.R519C	TSHR_ENST00000298171.2_Missense_Mutation_p.R519C|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	519					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R519S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CACCCTGGAGCGCTGGTATGC	0.587000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						21	38					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35468536	35468536	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr17:35468536G>A	ENST00000353139.5	-	52	6976	c.6495C>T	c.(6493-6495)ttC>ttT	p.F2165F	ACACA_ENST00000335166.5_Silent_p.F2050F|ACACA_ENST00000360679.3_Silent_p.F2070F|ACACA_ENST00000394406.2_Silent_p.F2128F|ACACA_ENST00000361253.5_Silent_p.F254F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2128	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTTTCTGCGGAATTTGATTT	0.458000													26	26					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													3	13					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	931589	931589	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr10:931589C>A	ENST00000316157.3	-	1	113	c.73G>T	c.(73-75)Gct>Tct	p.A25S		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	25							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACCAGATGAGCGCTGTCCTTG	0.507000													19	32					1.2644e-06	1.27494e-06	1	1	0
AGBL1	123624	broad.mit.edu	37	15	86801215	86801215	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr15:86801215G>A	ENST00000441037.2	+	8	879	c.784G>A	c.(784-786)Gat>Aat	p.D262N	AGBL1_ENST00000421325.2_Missense_Mutation_p.D262N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	262	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGATGATGGCGATGATGAAGT	0.433000													11	44					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323836	43323836	+	Silent	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr6:43323836G>C	ENST00000361428.2	-	4	1313	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	ZNF318_ENST00000318149.3_Silent_p.L412L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	412					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCCCAGAGTAGAGAGGGTGAT	0.468000													13	30					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20006685	20006685	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr13:20006685G>A	ENST00000400230.2	-	16	1194	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	TPTE2_ENST00000382975.4_Missense_Mutation_p.H344Y|TPTE2_ENST00000255310.6_Missense_Mutation_p.H307Y|TPTE2_ENST00000390680.2_Missense_Mutation_p.H307Y|TPTE2_ENST00000457266.2_Missense_Mutation_p.H273Y|TPTE2_ENST00000382977.4_Missense_Mutation_p.H384Y|TPTE2_ENST00000382978.1_Missense_Mutation_p.H344Y|TPTE2_ENST00000400103.2_Missense_Mutation_p.H273Y			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	384	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTGTAGAGATGTTTCACTTGT	0.323000													5	7					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30957382	30957382	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:30957382G>A	ENST00000295055.8	-	19	1907	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	CAPN13_ENST00000534090.2_Silent_p.F577F	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	577					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAACCTTCTGGAAAACATGCT	0.507000													4	14					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12058380	12058380	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr19:12058380G>C	ENST00000482090.1	+	2	606	c.188G>C	c.(187-189)aGa>aCa	p.R63T	ZNF700_ENST00000254321.5_Missense_Mutation_p.R81T|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AACCCCAGAAGAAGCTTCAGG	0.338000													10	36					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57863329	57863329	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr12:57863329C>G	ENST00000228682.2	+	11	1515	c.1424C>G	c.(1423-1425)aCt>aGt	p.T475S	GLI1_ENST00000543426.1_Missense_Mutation_p.T347S|GLI1_ENST00000546141.1_Missense_Mutation_p.T434S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	475					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGGCAGCACTGAAGACCTC	0.597000													25	57					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64960353	64960353	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr10:64960353G>A	ENST00000399262.2	-	11	5377	c.5159C>T	c.(5158-5160)tCc>tTc	p.S1720F	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1538F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1501F|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1720					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTCACAGCAGGAGTCATCCTG	0.413000													9	11					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872870	15872870	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr21:15872870G>C	ENST00000285670.2	-	7	1126	c.952C>G	c.(952-954)Cta>Gta	p.L318V	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400566.1_Missense_Mutation_p.L250V|SAMSN1_ENST00000400564.1_Missense_Mutation_p.L82V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	250					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCCTCTCTAGGAACTCCTGC	0.438000													15	28					0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16687166	16687166	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr19:16687166C>T	ENST00000263390.3	-	3	1737	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	492					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GCTGCTCTGCCGGCTCAGGTA	0.627000													25	58					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120186099	120186099	+	Silent	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:120186099C>G	ENST00000260264.4	+	11	1138	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L	POU2F3_ENST00000543440.2_Silent_p.L366L	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	366	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TGGGCCCCCTCTCTGTCCCTC	0.438000													19	27					0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166024229	166024229	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr4:166024229T>C	ENST00000306480.6	-	2	192	c.47A>G	c.(46-48)cAg>cGg	p.Q16R	TMEM192_ENST00000506087.1_Missense_Mutation_p.Q12R	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192							Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TTCAATACTCTGGGTGATATC	0.448000													35	23					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624100	21624100	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr14:21624100G>C	ENST00000304418.3	-	1	122	c.85C>G	c.(85-87)Cag>Gag	p.Q29E		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CTGGGGCTCTGACTGGGTTTA	0.478000													25	42					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				112	20					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396319	38396319	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr9:38396319C>G	ENST00000377698.3	+	2	727	c.574C>G	c.(574-576)Cag>Gag	p.Q192E		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	192					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTTGGTCATGCAGGGTTGGAA	0.587000													39	57					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19951738	19951738	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr22:19951738G>A	ENST00000361682.6	+	5	913	c.531G>A	c.(529-531)aaG>aaA	p.K177K	COMT_ENST00000403710.1_Silent_p.K177K|COMT_ENST00000403184.1_Silent_p.K177K|COMT_ENST00000449653.1_Silent_p.K127K|COMT_ENST00000406520.3_Silent_p.K177K|COMT_ENST00000407537.1_Silent_p.K127K|COMT_ENST00000493893.1_3'UTR	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	177					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CCCAGCTGAAGAAGAAGTATG	0.592000													32	54					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552034	47552034	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr21:47552034C>T	ENST00000300527.4	+	28	2732	c.2628C>T	c.(2626-2628)cgC>cgT	p.R876R		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	876	Nonhelical region.|VWFA 3.		R -> S (in UCMD).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCAACGCACGCGTGGCGCTGC	0.692000													9	15					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977829	46977829	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr6:46977829G>C	ENST00000371253.2	-	11	1557	c.1342C>G	c.(1342-1344)Cag>Gag	p.Q448E	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.Q251E	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	448					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATTTTAATCTGATAGCTGTAA	0.433000													14	21					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84784977	84784977	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:84784977G>A	ENST00000389394.3	+	11	1858	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	DNAH6_ENST00000398278.2_Missense_Mutation_p.G574E|DNAH6_ENST00000237449.6_Missense_Mutation_p.G574E	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	574	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAACTTGAAGGAAAAACCTGT	0.358000													4	53					0	0	1	0	0
CLEC11A	6320	broad.mit.edu	37	19	51228548	51228548	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr19:51228548C>G	ENST00000250340.4	+	4	993	c.796C>G	c.(796-798)Cgc>Ggc	p.R266G	CLEC11A_ENST00000599973.1_Missense_Mutation_p.S282W	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	266	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CGCCTGGCATCGCTCACCCCG	0.711000													15	20					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532079	190532079	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:190532079C>T	ENST00000260952.4	+	4	1634	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	407	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CAGATCGAATCACAGGAAGGG	0.383000													6	7					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117351214	117351214	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr11:117351214C>T	ENST00000321322.6	-	14	2910	c.2909G>A	c.(2908-2910)cGa>cAa	p.R970Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R700Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	910	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCCGTCGAATCGCTGGGTCCA	0.637000													11	10					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901223	40901223	+	Silent	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr19:40901223G>A	ENST00000324001.7	-	7	3306	c.3036C>T	c.(3034-3036)gcC>gcT	p.A1012A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1012					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTGAGGTCGGCCCCTGCCA	0.652000													5	76					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914231	23914231	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr13:23914231G>C	ENST00000382298.3	-	10	4372	c.3784C>G	c.(3784-3786)Cat>Gat	p.H1262D	SACS_ENST00000402364.1_Missense_Mutation_p.H512D|SACS_ENST00000382292.3_Missense_Mutation_p.H1262D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1262					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCATTTAGATGATCATGCATG	0.348000													7	7					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99422195	99422195	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:99422195G>A	ENST00000370188.3	-	2	700	c.340C>T	c.(340-342)Ccg>Tcg	p.P114S	LPPR5_ENST00000263177.4_Missense_Mutation_p.P114S	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		114						integral to membrane	hydrolase activity										CGCACCAGCGGGTTTATATAG	0.353000													11	13					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75933713	75933713	+	Silent	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr2:75933713C>T	ENST00000321027.3	-	2	463	c.330G>A	c.(328-330)aaG>aaA	p.K110K	GCFC2_ENST00000409857.3_Silent_p.K110K|GCFC2_ENST00000470503.1_Silent_p.K110K|GCFC2_ENST00000541687.1_Silent_p.K110K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	110					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K110K(1)									CCTGATCATCCTTACTTTCTG	0.338000													15	12					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44609904	44609904	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr3:44609904C>T	ENST00000273320.3	+	5	1219	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	RP11-944L7.5_ENST00000419137.1_Missense_Mutation_p.H99Y|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.H264Y|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.H264Y|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.H264Y	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GCCAGAAAATCACCATAGCAT	0.423000													15	15					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187209614	187209614	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr4:187209614C>T	ENST00000264692.4	+	15	1901	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	F11-AS1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Missense_Mutation_p.S575L			P03951	FA11_HUMAN	coagulation factor XI	575	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAGGGAGATTCGGGAGGCCCT	0.537000													29	90					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718).	axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													9	104	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765	byFrequency	TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr7:72413723_72413724insCTC	ENST00000395270.1	+	14	3437_3438	c.2396_2397insCTC	c.(2395-2400)ttcttc>ttCTCcttc	p.799_800FF>FSF	POM121_ENST00000446813.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000358357.3_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000257622.4_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1065FF>FSF	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													8	80	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077919	32077920	+	RNA	INS	-	-	TTT	rs4026454	by1000genomes	TCGA-CF-A47V-01A-11D-A23U-08	TCGA-CF-A47V-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2f5952-8668-467c-a442-ee5d411a361b	34cc1d56-52d8-459d-a291-e1bd293e4082	g.chr16:32077919_32077920insTTT	ENST00000566806.1	-	0	499																											GAAAACGGTTATTTTTTTGTTC	0.426													3	3	---	---	---	---