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
PRKCQ	5588	broad.mit.edu	37	10	6506274	6506274	+	Splice_Site	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr10:6506274C>T	ENST00000263125.5	-	13	1545		c.e13+1		PRKCQ_ENST00000397176.2_Splice_Site|PRKCQ_ENST00000539722.1_Splice_Site	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta						axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGCCTCTTACGTCGCTCTGG	0.463000													50	210					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868541	58868541	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr19:58868541C>T	ENST00000311044.3	-	3	649	c.461G>A	c.(460-462)cGc>cAc	p.R154H	ZNF497_ENST00000425453.3_Missense_Mutation_p.R154H|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTGTGGATGCGCTGGTGCTG	0.672000													5	18					0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93159946	93159946	+	Missense_Mutation	SNP	T	T	A	rs138887089	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr5:93159946T>A	ENST00000395965.3	-	8	956	c.814A>T	c.(814-816)Atc>Ttc	p.I272F	FAM172A_ENST00000505869.1_Missense_Mutation_p.I162F|FAM172A_ENST00000509739.1_Missense_Mutation_p.I125F|FAM172A_ENST00000509163.1_Missense_Mutation_p.I226F	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	272						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CAAACATAGATTGCATGTTCT	0.348000													49	55					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156773462	156773462	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr4:156773462C>A	ENST00000537611.2	-	4	638	c.592G>T	c.(592-594)Gca>Tca	p.A198S		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	198						integral to membrane|plasma membrane											AAGACATGTGCAAAATCCTCC	0.323000													6	67					0.248553	0.248553	1	1	0
SLC19A1	6573	broad.mit.edu	37	21	46935587	46935587	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr21:46935587C>G	ENST00000311124.4	-	6	1913	c.1761G>C	c.(1759-1761)caG>caC	p.Q587H	SLC19A1_ENST00000485649.2_Missense_Mutation_p.Q547H|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	587					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGTTCACATTCTGAACACCGT	0.617000													15	50					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145536959	145536959	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:145536959A>T	ENST00000369304.3	+	18	2514	c.2339A>T	c.(2338-2340)cAa>cTa	p.Q780L	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q649L|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q637L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	780					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCTCTATACAAAAGCTGGTC	0.537000													22	86					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957976	12957976	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:12957976C>T	ENST00000276297.4	-	9	2279	c.1870G>A	c.(1870-1872)Gtt>Att	p.V624I	DLC1_ENST00000358919.2_Missense_Mutation_p.V187I|DLC1_ENST00000512044.2_Missense_Mutation_p.V221I|DLC1_ENST00000520226.1_Missense_Mutation_p.V113I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	624					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGGAGCAAACGCTGATGACG	0.632000													11	87					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44044558	44044558	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:44044558C>T	ENST00000359947.4	+	7	986	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	PTPRF_ENST00000372414.3_Missense_Mutation_p.R216C|PTPRF_ENST00000372413.3_Missense_Mutation_p.R216C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R216C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	216	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAGGCACACGTTACTCAGC	0.607000													4	33					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522598	157522598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr6:157522598C>T	ENST00000346085.5	+	18	4871	c.4870C>T	c.(4870-4872)Cga>Tga	p.R1624*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.R1611*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.R1606*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.R1664*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1611					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAAACAAAGGCGAAAGATTAC	0.443000													18	111					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655121	110655121	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:110655121C>T	ENST00000399066.3	-	1	783	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	SYBU_ENST00000440310.1_Missense_Mutation_p.R22Q|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000422135.1_Missense_Mutation_p.R22Q|SYBU_ENST00000424158.2_Missense_Mutation_p.R27Q|SYBU_ENST00000528647.1_Missense_Mutation_p.R21Q|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000276646.9_Missense_Mutation_p.R22Q|SYBU_ENST00000446070.2_Missense_Mutation_p.R21Q|SYBU_ENST00000533895.1_Missense_Mutation_p.R21Q|SYBU_ENST00000533171.1_Missense_Mutation_p.R22Q|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000433638.1_Missense_Mutation_p.R22Q|SYBU_ENST00000419099.1_Missense_Mutation_p.R21Q|SYBU_ENST00000408908.2_Missense_Mutation_p.R22Q	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	22	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AATTCGGCTTCGAGAAATCTC	0.478000													7	152					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43813897	43813897	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:43813897G>T	ENST00000382031.1	+	5	971	c.940G>T	c.(940-942)Gta>Tta	p.V314L	MAP1A_ENST00000300231.5_Missense_Mutation_p.V76L|MAP1A_ENST00000399453.1_Missense_Mutation_p.V76L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	76	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTGGAAGCTGGTACGGCACTT	0.552000													5	54					0.014758	0.0149276	1	1	0
DUSP16	80824	broad.mit.edu	37	12	12630396	12630396	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:12630396C>T	ENST00000228862.2	-	7	2000	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	457					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E457K(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGACTGGTTTCGGGAGTCTGC	0.527000													7	122					0	0	1	0	0
DCTPP1	79077	broad.mit.edu	37	16	30435664	30435664	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:30435664G>A	ENST00000319285.4	-	3	497	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	DCTPP1_ENST00000568973.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000568434.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000567983.1_Missense_Mutation_p.R36C|ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000565758.1_Missense_Mutation_p.R14C	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	135					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						GAAGAGCTGCGGGCCAGATGG	0.612000													8	56					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114128119	114128119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:114128119C>T	ENST00000369615.1	+	4	726	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R222*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R222*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R222*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	222	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAGAAAACGAACGACATC	0.458000													6	56					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209951	65209951	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr14:65209951C>T	ENST00000247226.7	+	15	3330	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1064C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R597C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R569C|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1064					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGATGAGGCACGCCGAGCAgg	0.731000													14	66					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821769	129821769	+	RNA	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr3:129821769C>T	ENST00000500074.2	-	0	389																											ACGGTGAAAGCTTCAGGTTAC	0.572000													3	41					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968672	5968672	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:5968672C>T	ENST00000329564.6	+	1	103	c.96C>T	c.(94-96)tcC>tcT	p.S32S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGCTGTCCCTGCCCCTCA	0.557000													17	44					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28408274	28408274	+	Missense_Mutation	SNP	G	G	A	rs151205330	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:28408274G>A	ENST00000261609.7	-	69	10820	c.10712C>T	c.(10711-10713)gCg>gTg	p.A3571V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3571					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGAAAGCACCGCGGAGAGCAC	0.647000													7	73					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348249	89348249	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:89348249C>T	ENST00000301030.4	-	9	5161	c.4701G>A	c.(4699-4701)agG>agA	p.R1567R	ANKRD11_ENST00000378330.2_Silent_p.R1567R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1567	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTCCCTGGGCCTGGCGTCTT	0.587000													13	90					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907641	164907641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr3:164907641G>T	ENST00000475390.1	-	2	1421	c.978C>A	c.(976-978)taC>taA	p.Y326*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.Y326*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	326						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAGGACTTGTATTCGACAG	0.478000										HNSCC(40;0.11)			27	231					3.6726e-16	3.94133e-16	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39521441	39521441	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr17:39521441C>T	ENST00000251646.3	-	5	911	c.862G>A	c.(862-864)Gcc>Acc	p.A288T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	288	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGTGCTGGGCCTGCAGCTCG	0.582000													7	81					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770945	37770945	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:37770945G>A	ENST00000402918.1	-	3	1415	c.630C>T	c.(628-630)taC>taT	p.Y210Y	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.Y210Y	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	210	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCAGGCGGTCGTAGTTCTTGG	0.632000													7	36					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724087	7724087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:7724087C>T	ENST00000303635.7	+	9	1687	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q494*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAACCCAAAGCAGGGCCAGAC	0.597000			T	WWTR1	epitheliod hemangioendothelioma								20	79					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92983053	92983053	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:92983053G>A	ENST00000523629.1	-	11	1826	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R469C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R421C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R458C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R421C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	458					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R469C(1)|p.R421C(1)|p.R458C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATCGCCTGGCGCTTCACCTCA	0.567000													26	25					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37956085	37956085	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:37956085C>T	ENST00000436072.2	-	1	432	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	19	FZ.			V -> M (in Ref. 5; CAG46532).	brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCGCCGCGCACGCCCAGCGCC	0.687000													29	26					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738332	110738332	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:110738332G>T	ENST00000331565.4	+	10	2102	c.1617G>T	c.(1615-1617)gaG>gaT	p.E539D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	539					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCATCCTTGAGAACATCGCTG	0.542000													22	38					1.22574e-08	1.29958e-08	1	1	0
MRPL24	79590	broad.mit.edu	37	1	156708490	156708490	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:156708490G>A	ENST00000368211.4	-	2	145	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	MRPL24_ENST00000361531.2_Missense_Mutation_p.L3F	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	3					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGCAGAAAGACGCATGCCT	0.557000													13	29					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128807144	128807144	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr4:128807144G>A	ENST00000270861.5	+	5	893	c.619G>A	c.(619-621)Ggg>Agg	p.G207R	PLK4_ENST00000507249.1_Missense_Mutation_p.G207R|PLK4_ENST00000513090.1_Missense_Mutation_p.G175R|PLK4_ENST00000514379.1_Missense_Mutation_p.G166R|PLK4_ENST00000515069.1_Missense_Mutation_p.G207R	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	207	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G207W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATTACTTATCGGGAGACCACC	0.408000													9	105					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411941	40411941	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr19:40411941G>A	ENST00000221347.6	-	7	3694	c.3687C>T	c.(3685-3687)tgC>tgT	p.C1229C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1229	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGCGGTCCGCAGCTGGAGG	0.672000													11	34					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67698406	67698406	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:67698406C>T	ENST00000545606.1	+	9	1752	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	439					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTTAAAGCTCTTCACAAACA	0.378000													12	34					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476820	57476820	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:57476820C>A	ENST00000371236.2	-	13	1833	c.1570G>T	c.(1570-1572)Gct>Tct	p.A524S	DAB1_ENST00000371234.4_Missense_Mutation_p.A524S|DAB1_ENST00000420954.2_Missense_Mutation_p.A522S|DAB1_ENST00000371231.1_Missense_Mutation_p.A557S|DAB1_ENST00000414851.2_Missense_Mutation_p.A506S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.A438S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	557					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCACTTACAGCTTCTTGCTCT	0.403000													16	81					2.31682e-05	2.39859e-05	1	1	0
TRAPPC1	58485	broad.mit.edu	37	17	7834416	7834416	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr17:7834416G>A	ENST00000303731.4	-	3	337	c.222C>T	c.(220-222)taC>taT	p.Y74Y	TRAPPC1_ENST00000540486.1_Silent_p.Y74Y	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	74					ER to Golgi vesicle-mediated transport	endoplasmic reticulum				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGCGTCTCGTAGTAATGGA	0.527000													26	15					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026136	16026136	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:16026136T>C	ENST00000350896.3	-	4	658	c.461A>G	c.(460-462)gAc>gGc	p.D154G	MSR1_ENST00000381998.4_Missense_Mutation_p.D154G|MSR1_ENST00000445506.2_Missense_Mutation_p.D172G|MSR1_ENST00000355282.2_Missense_Mutation_p.D154G|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.D154G	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	154					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAGAAGAATGTCATTAAATCT	0.388000													25	99					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35720905	35720905	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr9:35720905A>C	ENST00000314888.9	-	11	1463	c.1110T>G	c.(1108-1110)ttT>ttG	p.F370L	TLN1_ENST00000540444.1_Missense_Mutation_p.F370L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	370	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTAATCTCCAAAATCCTAGG	0.488000													5	61					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22662995	22662995	+	RNA	SNP	C	C	T	rs79792109	by1000genomes	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:22662995C>T	ENST00000426066.1	+	0	500					NR_027293.1																						TTTATTGTGTCACATAGAATT	0.348000													3	29					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74779538	74779538	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:74779538G>A	ENST00000264094.3	-	2	295	c.224C>T	c.(223-225)aCg>aTg	p.T75M	LOXL3_ENST00000409986.1_Missense_Mutation_p.T75M|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.T75M|LOXL3_ENST00000393937.2_Missense_Mutation_p.T75M|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409249.1_Missense_Mutation_p.T75M	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	75	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGCCTGCAGCGTGAAGTCATC	0.622000													4	36					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642000													4	32					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67223060	67223060	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:67223060G>A	ENST00000314586.6	-	3	310	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	24	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGCTCTGCCCGCTCCTGCTCT	0.657000													4	13					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96639323	96639323	+	Silent	SNP	A	A	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:96639323A>G	ENST00000518156.2	+	3	1276	c.846A>G	c.(844-846)ccA>ccG	p.P282P	DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.P254P|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Silent_p.P154P|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR			P56179	DLX6_HUMAN	distal-less homeobox 6	164					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ACTCCTCTCCACACCAGGACA	0.567000													3	19					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427768	47427768	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr4:47427768C>T	ENST00000295454.3	+	9	1450	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	GABRB1_ENST00000538619.1_Silent_p.S316S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	386					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTCACGAGCGTGAGCGACC	0.622000													15	65					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121290407	121290407	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:121290407A>C	ENST00000297848.3	+	27	3541	c.3271A>C	c.(3271-3273)Aaa>Caa	p.K1091Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.K1091Q|COL14A1_ENST00000247781.3_Missense_Mutation_p.K996Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1091	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAATGCTTACAAAACCAAAGA	0.368000													7	171					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91098516	91098516	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr10:91098516A>T	ENST00000371818.4	+	2	284	c.104A>T	c.(103-105)gAa>gTa	p.E35V	IFIT3_ENST00000371811.4_Missense_Mutation_p.E35V|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	35					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AGGGATCTAGAAGATAGAGTG	0.403000													15	66					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158139244	158139244	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr5:158139244G>A	ENST00000313708.6	-	14	1749	c.1467C>T	c.(1465-1467)aaC>aaT	p.N489N	EBF1_ENST00000517373.1_Intron|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N458N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	489	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCGTATCCGTTCATGCTCG	0.572000			T	HMGA2	lipoma								3	18					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95403862	95403862	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:95403862G>A	ENST00000336148.5	-	10	1908	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CAAAAGGCAGGGGTGATTGCA	0.403000								Direct reversal of damage;Homologous recombination					22	256					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111246	7111246	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:7111246C>T	ENST00000306904.5	+	1	1082	c.895C>T	c.(895-897)Ccg>Tcg	p.P299S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGGGGGACACCGCCATCTTA	0.662000													3	25					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820898	2820898	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:2820898C>T	ENST00000520002.1	-	61	9858	c.9303G>A	c.(9301-9303)ccG>ccA	p.P3101P	CSMD1_ENST00000602723.1_Silent_p.P2924P|CSMD1_ENST00000602557.1_Silent_p.P3101P|CSMD1_ENST00000400186.3_Silent_p.P2924P|CSMD1_ENST00000542608.1_Silent_p.P2923P|CSMD1_ENST00000537824.1_Silent_p.P3100P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3101	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACCGGCGGCGGCTGAGGAC	0.527000													30	84					0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15686064	15686064	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr3:15686064C>T	ENST00000383778.4	+	4	999	c.641C>T	c.(640-642)aCc>aTc	p.T214I	BTD_ENST00000449107.1_Missense_Mutation_p.T236I|BTD_ENST00000437172.1_Missense_Mutation_p.T236I|BTD_ENST00000303498.5_Missense_Mutation_p.T234I			P43251	BTD_HUMAN	biotinidase	234	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACCTTTGATACCCCCTTTGCT	0.453000													8	78					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86071564	86071564	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:86071564G>A	ENST00000377332.3	-	6	1071	c.963C>T	c.(961-963)atC>atT	p.I321I	ST3GAL5_ENST00000393805.1_Silent_p.I293I|ST3GAL5_ENST00000393808.3_Silent_p.I298I	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	321					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						AGTACTGAAGGATGTCAAAGG	0.438000													7	55					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327064	28327064	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr21:28327064C>T	ENST00000284987.5	-	2	1352	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	411	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATACCGATTTCGTGAGCCACA	0.488000													13	42					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93251231	93251231	+	Silent	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:93251231G>T	ENST00000322349.8	-	4	540	c.276C>A	c.(274-276)gtC>gtA	p.V92V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	92					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAGGTCTTGGACCTCTTGTC	0.294000													40	70					4.14481e-20	4.503e-20	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235024	73235024	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr9:73235024G>A	ENST00000377110.2	-	15	2304	c.2061C>T	c.(2059-2061)gaC>gaT	p.D687D	TRPM3_ENST00000423814.3_Silent_p.D714D|TRPM3_ENST00000377105.1_Silent_p.D546D|TRPM3_ENST00000408909.2_Silent_p.D546D|TRPM3_ENST00000396280.5_Silent_p.D536D|TRPM3_ENST00000377111.2_Silent_p.D687D|TRPM3_ENST00000396285.1_Silent_p.D534D|TRPM3_ENST00000377106.1_Silent_p.D559D|TRPM3_ENST00000360823.2_Silent_p.D549D|TRPM3_ENST00000396292.4_Silent_p.D559D|TRPM3_ENST00000357533.2_Silent_p.D691D|TRPM3_ENST00000358082.3_Silent_p.D549D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	712						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGAAATGTCGTCAACCATGT	0.597000													8	36					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699157	60699157	+	Splice_Site	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:60699157G>A	ENST00000005286.4	+	6	1169		c.e6-1		TMEM132A_ENST00000453848.2_Intron	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTTTGGCCAGCAGTCCCCTT	0.552000													13	135					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16531390	16531390	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:16531390G>A	ENST00000270747.3	-	12	1907	c.1771C>T	c.(1771-1773)Cgc>Tgc	p.R591C	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	591					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCCAGCGGGCCTGAGAG	0.607000													5	5					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101952153	101952153	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:101952153G>A	ENST00000536178.1	+	4	1062	c.1017G>A	c.(1015-1017)tcG>tcA	p.S339S	SH2B2_ENST00000306803.8_Silent_p.S296S			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	296					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						AGAAGCACTCGTGGGTAGCTG	0.592000													9	216					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597075	136597075	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr6:136597075C>T	ENST00000531224.1	-	5	1840	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.E528K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E530K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E528K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E357K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E528K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	530					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGTGGGCTTTCCTCTCTGAAG	0.433000													22	315					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555449	50555449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:50555449G>A	ENST00000267845.3	-	2	589	c.187C>T	c.(187-189)Cga>Tga	p.R63*	HDC_ENST00000543581.1_Nonsense_Mutation_p.R63*	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATGATGATTCGTTCAATGTCC	0.592000													19	97					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													3	39					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962238	34962238	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chrX:34962238C>T	ENST00000329357.5	+	1	1326	c.1290C>T	c.(1288-1290)acC>acT	p.T430T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	430										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTACCAAGACCGGAGCGTCCC	0.532000													13	31					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28812421	28812421	+	Splice_Site	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:28812421G>A	ENST00000422425.2	+	26	1931	c.1887_splice	c.e26+1	p.S629_splice	PLB1_ENST00000329020.6_Splice_Site_p.S328_splice|PLB1_ENST00000327757.5_Splice_Site_p.S640_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	640	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAAGACCTCGGTAAAGAAAG	0.443000													13	49					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255221	51255221	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:51255221C>T	ENST00000404971.1	-	2	1530	c.191G>A	c.(190-192)cGc>cAc	p.R64H	NRXN1_ENST00000401669.2_Missense_Mutation_p.R64H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R64H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R64H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R64H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R64H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R64H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	64	Laminin G-like 1.				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)			CACGAGGCCGCGGGCGCTGCG	0.652000													6	8					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55874497	55874497	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:55874497C>T	ENST00000447944.2	-	19	1673	c.1587G>A	c.(1585-1587)ttG>ttA	p.L529L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	529					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATCTGTCAGCAAACGATAAT	0.313000													10	56					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67765217	67765217	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:67765217C>T	ENST00000227471.2	-	7	913	c.834G>A	c.(832-834)acG>acA	p.T278T	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	278					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TCCGCGGGAGCGTCCGCAGAA	0.657000													7	58					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032606	30032606	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:30032606G>A	ENST00000328224.6	-	2	2853	c.1620C>T	c.(1618-1620)gtC>gtT	p.V540V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	540						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAGGGACCCGACAATCTTGC	0.488000													8	38					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13224399	13224399	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr9:13224399C>G	ENST00000319217.7	-	4	614	c.367G>C	c.(367-369)Gat>Cat	p.D123H	MPDZ_ENST00000381022.2_Missense_Mutation_p.D123H|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123H|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123H|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123H|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123H|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	123					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAAGCTGATCAAATTCATCA	0.338000													27	47					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112703750	112703750	+	Silent	SNP	C	C	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:112703750C>G	ENST00000550722.1	-	15	2393	c.1998G>C	c.(1996-1998)gtG>gtC	p.V666V	HECTD4_ENST00000430131.2_Silent_p.V378V|HECTD4_ENST00000377560.5_Silent_p.V628V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGGTTAGGATCACATCCCGTA	0.443000													5	32					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109521	64109521	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:64109521C>T	ENST00000356786.5	+	8	775	c.731C>T	c.(730-732)cCc>cTc	p.P244L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	244					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGAGGCTCCCTCTAGGGCT	0.652000													5	34					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111578	57111578	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:57111578C>T	ENST00000454682.1	-	3	4017	c.3736G>A	c.(3736-3738)Gca>Aca	p.A1246T	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGGAGTTGCAGCTGGGGTT	0.657000			T	BCL6	NHL								17	58					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162557312	162557312	+	Silent	SNP	A	A	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:162557312A>G	ENST00000271469.3	+	6	1184	c.882A>G	c.(880-882)cgA>cgG	p.R294R	UAP1_ENST00000367925.1_Silent_p.R294R|UAP1_ENST00000367924.1_Silent_p.R294R|UAP1_ENST00000367926.4_Silent_p.R294R			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	294					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGTTTGCCGAGTGGATGGAG	0.458000													42	74					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223791815	223791815	+	Missense_Mutation	SNP	C	C	A	rs143664156		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:223791815C>A	ENST00000357430.3	+	12	1904	c.1373C>A	c.(1372-1374)aCc>aAc	p.T458N	ACSL3_ENST00000392066.3_Missense_Mutation_p.T458N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	458					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CTTTCTGCAACCACGCAGCGA	0.473000			T	ETV1	prostate								5	39					0.000602214	0.000616219	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31019454	31019454	+	Silent	SNP	T	T	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr20:31019454T>C	ENST00000375687.4	+	10	1375	c.951T>C	c.(949-951)gcT>gcC	p.A317A	ASXL1_ENST00000306058.5_Silent_p.A312A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	317					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCCATGCGGCTCAGAGCTGGC	0.532000			"""F, N, Mis"""		"""MDS, CMML"""								10	23					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807838	215807838	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:215807838G>A	ENST00000366943.2	-	70	15646	c.15260C>T	c.(15259-15261)tCt>tTt	p.S5087F	USH2A_ENST00000307340.3_Missense_Mutation_p.S5087F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5087					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCAATGGAGACATCCTCTT	0.428000										HNSCC(13;0.011)			16	56					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34068082	34068082	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:34068082C>T	ENST00000373381.4	-	43	6773	c.6597G>A	c.(6595-6597)ccG>ccA	p.P2199P	CSMD2_ENST00000373377.1_Silent_p.P298P|CSMD2_ENST00000373380.1_Silent_p.P1072P|CSMD2_ENST00000373388.2_Silent_p.P298P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2201	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCTGGAGTACGGGCTAGGGA	0.612000													8	31					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	3	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													6	2	---	---	---	---					
STAG3L1	54441	broad.mit.edu	37	7	74991538	74991539	+	RNA	DEL	TC	TC	-			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:74991538_74991539delTC	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN								nucleus	binding										GAGAGCATGttctttttttttt	0.416													2	4	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:29372348delT	ENST00000398878.3	+	0	1186				SNX29P2_ENST00000507381.1_RNA																							TGGGAGGttgttttttttttt	0.478													4	5	---	---	---	---					
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ccg>c	p.LP22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704													3	5	---	---	---	---					
CYP4F8	11283	broad.mit.edu	37	19	15730745	15730747	+	RNA	DEL	TAA	TAA	-	rs140849245		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr19:15730745_15730747delTAA	ENST00000441682.2	+	0	586							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						taggagcatgtaatggactcatg	0.468													4	2	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)cgc>cCAGCTGCTGCGCCCCgc	p.48_49insPAAAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	48	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													7	49	---	---	---	---					
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GTGT	rs72063487	by1000genomes	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:25855682_25855683insGTGT	ENST00000354451.2	+	0	366																											CCTGGCAGCTGgtgtgtgtgtg	0.530													3	2	---	---	---	---					
LINC01399	104310353	broad.mit.edu	37	22	35560569	35560570	+	RNA	INS	-	-	TTGTTG	rs59047562	by1000genomes	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:35560569_35560570insTTGTTG	ENST00000423311.1	-	0	512																											tcatctaggttttgttgttgtt	0.465													4	5	---	---	---	---