Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C3orf30	152405	broad.mit.edu	37	3	118866052	118866052	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:118866052A>C	uc003ecb.1	+	0	1056	c.1016A>C	c.(1015-1017)cAc>cCc	p.H339P	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.H339P	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	339								p.H339L(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GACAATGCTCACTACACTGAA	0.468000														31			17		0	0	0.00188189	0	0
PRLR	5618	broad.mit.edu	37	5	35065851	35065851	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:35065851G>A	uc003jjm.3	-	9	1768	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.I302I|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	403					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAAAATAGGGGATTTTGCCTT	0.488000														138			59		0	0	0.000781405	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495446	20495446	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:20495446G>A	uc001ytf.1	+	5		c.649_splice	c.e5+1							Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TTCTAGCCCAGGTATTCGTAT	0.383000														64			9		0	0	0.000442599	0	0
BCL11A	53335	broad.mit.edu	37	2	60688028	60688028	+	Silent	SNP	G	A	A	rs115953983	by1000genomes	TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:60688028G>A	uc002sae.1	-	3	2247	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	BCL11A_uc002sab.3_Silent_p.F673F|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.F342F|BCL11A_uc010ypj.2_Silent_p.F639F|BCL11A_uc002sad.1_Silent_p.F521F|BCL11A_uc002saf.1_Silent_p.F639F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	673					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGAAGCTAAGGAAGGGATCTT	0.642000			T	IGH@	B-CLL									326			145		0	0	0.000781405	0	0
OR5M8	219484	broad.mit.edu	37	11	56258182	56258182	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:56258182G>T	uc001nix.1	-	0	665	c.665C>A	c.(664-666)cCt>cAt	p.P222H	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F221F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAAAATAGCAGGGAAAATGTA	0.408000														29			12		1.49906e-05	4.96293e-05	0.00244969	1	0
NLRP8	126205	broad.mit.edu	37	19	56466752	56466752	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:56466752C>T	uc002qmh.3	+	2	1399	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	NLRP8_uc010etg.3_Missense_Mutation_p.S443F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	443	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGAACTTTTCCAGAAAGATC	0.473000														83			13		0	0	0.00185496	0	0
OR6A2	8590	broad.mit.edu	37	11	6816899	6816899	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:6816899A>G	uc001mes.1	-	0	241	c.41T>C	c.(40-42)gTg>gCg	p.V14A		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCAGCAACACAAACTCACT	0.507000														45			12		0	0	0.00185496	0	0
DAPL1	92196	broad.mit.edu	37	2	159663565	159663565	+	Splice_Site	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:159663565A>C	uc002uaf.3	+	3	203	c.147_splice	c.e3-2	p.S49_splice		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	Homo sapiens death associated protein-like 1 (DAPL1), mRNA.	49					apoptosis|cell differentiation					prostate(1)	1						TCATCTTCACAGTGCCATTGC	0.438000														18			7		0	0	0.00198382	0	0
DGKK	139189	broad.mit.edu	37	X	50119821	50119821	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:50119821G>A	uc010njr.2	-	23	3231	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1070					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGTCAGAGAGGCTCTCTTGA	0.502000														24			9		0	0	0.000978159	0	0
OR2M4	26245	broad.mit.edu	37	1	248402764	248402764	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:248402764C>T	uc010pzh.2	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F177fs*4(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCACTTTTTCTGTGATGTTG	0.428000														90			50		0	0	0.000781405	0	0
TONSL	4796	broad.mit.edu	37	8	145661974	145661975	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:145661974_145661975CC>TT	uc011llg.2	-	15	1995_1996	c.1980_1981GG>AA	c.(1978-1983)atggag>atAAag	p.660_661ME>IK	AK298596_uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	660					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGCAGCATCTCCATGGCCCTGG	0.673000														39			10		0	0	6.4e-05	0	0
POMT1	10585	broad.mit.edu	37	9	134382804	134382804	+	Silent	SNP	C	T	T	rs138064523	byFrequency	TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:134382804C>T	uc004cav.3	+	4	532	c.330C>T	c.(328-330)ctC>ctT	p.L110L	POMT1_uc011mci.1_Silent_p.L110L|POMT1_uc004cax.3_Silent_p.L110L|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Silent_p.L110L|POMT1_uc004caw.3_Silent_p.L56L|POMT1_uc011mck.2_5'UTR|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Silent_p.L80L	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	110					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGCCAGCACTCGCGGGGGCCT	0.562000														60			33		0	0	0.00283554	0	0
SPG11	80208	broad.mit.edu	37	15	44890914	44890914	+	Silent	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:44890914T>C	uc001ztx.3	-	21	3838	c.3807A>G	c.(3805-3807)agA>agG	p.R1269R	SPG11_uc010ueh.2_Silent_p.R1269R|SPG11_uc010uei.2_Silent_p.R1269R|SPG11_uc001zty.1_5'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1269					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCATATCAACTCTGAGCTTGA	0.418000														58			20		0	0	0.00188189	0	0
L1TD1	54596	broad.mit.edu	37	1	62675455	62675455	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:62675455G>A	uc021ooc.1	+	5	1444	c.1009_splice	c.e5-1	p.D337_splice	L1TD1_uc001dae.4_Splice_Site_p.D337_splice	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	337										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TAACTTTCAGGATAAAACCCT	0.294000														50			15		0	0	0.00244969	0	0
PML	5371	broad.mit.edu	37	15	74337233	74337233	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:74337233G>A	uc002awv.3	+	8	2673	c.2533G>A	c.(2533-2535)Gct>Act	p.A845T	PML_uc002awu.3_Missense_Mutation_p.A797T|PML_uc010ule.2_Missense_Mutation_p.A406T	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	845					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAACCTGCAGGCTCTGGGCAC	0.652000			T	"""RARA, PAX5"""	"""APL, ALL"""									55			29		0	0	0.001512	0	0
TNS1	7145	broad.mit.edu	37	2	218669215	218669216	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:218669215_218669216GG>AA	uc002vgt.2	-	32	5572_5573	c.5174_5175CC>TT	c.(5173-5175)tcc>tTT	p.S1725F	TNS1_uc002vgr.2_Missense_Mutation_p.S1711F|TNS1_uc002vgs.2_Missense_Mutation_p.S1704F|TNS1_uc002vgq.2_Missense_Mutation_p.S225F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1725						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCATGACCTTGGAGACGAAGTT	0.624000														84			28		0	0	6.4e-05	0	0
ZNF536	9745	broad.mit.edu	37	19	30936347	30936347	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:30936347G>A	uc002nsu.1	+	1	2016	c.1878G>A	c.(1876-1878)atG>atA	p.M626I	ZNF536_uc010edd.1_Missense_Mutation_p.M626I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGGGAACATGAAGGAGAAGC	0.597000														107			23		0	0	0.000720815	0	0
OR10G4	390264	broad.mit.edu	37	11	123887211	123887211	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:123887211G>A	uc010sac.2	+	0	930	c.930G>A	c.(928-930)agG>agA	p.R310R		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		ATCCTCAGAGGAAATAAATAC	0.348000														29			17		0	0	0.00121646	0	0
LTBP4	8425	broad.mit.edu	37	19	41132981	41132981	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:41132981C>T	uc002ooh.1	+	31	4285	c.4285C>T	c.(4285-4287)Cca>Tca	p.P1429S	LTBP4_uc002oog.1_Missense_Mutation_p.P1392S|LTBP4_uc002ooi.1_Missense_Mutation_p.P1362S|LTBP4_uc002ooj.1_Missense_Mutation_p.P303S|LTBP4_uc002ook.1_Missense_Mutation_p.P564S|LTBP4_uc002ool.1_Missense_Mutation_p.P442S|LTBP4_uc010xvp.1_Missense_Mutation_p.P190S	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1430	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACTTAGGTCCACCTTACCA	0.657000														13			7		0	0	0.00198382	0	0
PLCB1	23236	broad.mit.edu	37	20	8717789	8717790	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:8717789_8717790GG>AA	uc002wnb.3	+	19	2161_2162	c.2158_2159GG>AA	c.(2158-2160)gga>AAa	p.G720K	PLCB1_uc010zrb.1_Missense_Mutation_p.G619K|PLCB1_uc002wna.3_Missense_Mutation_p.G720K|PLCB1_uc002wnc.1_Missense_Mutation_p.G619K|PLCB1_uc002wnd.1_Missense_Mutation_p.G297K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	720	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACATCCCAAGGAAATGCTGTG	0.386000														56			20		0	0	6.4e-05	0	0
RUVBL2	10856	broad.mit.edu	37	19	49507615	49507615	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:49507615G>T	uc002plr.1	+	3	218	c.205G>T	c.(205-207)Gcc>Tcc	p.A69S	RUVBL2_uc010yab.2_Missense_Mutation_p.A69S|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.A24S	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	69					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGGGAAGATTGCCGGTCGGGC	0.662000														54			20		8.04996e-18	2.68332e-17	0.00188189	1	0
GTF3C4	9329	broad.mit.edu	37	9	135553441	135553441	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:135553441C>T	uc010mzv.3	+	1	693	c.435C>T	c.(433-435)ttC>ttT	p.F145F	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	145					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTCAGACTTTCATGTTGGATA	0.483000														73			25		0	0	0.000720815	0	0
VPS18	57617	broad.mit.edu	37	15	41192378	41192378	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:41192378G>A	uc001zne.3	+	3	1701	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	454					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTACTTTGAGGAGATTGCCC	0.622000														58			20		0	0	0.000958276	0	0
XIRP2	129446	broad.mit.edu	37	2	168097208	168097208	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:168097208A>G	uc002udx.3	+	6	1093	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	XIRP2_uc010fpn.3_Missense_Mutation_p.N368S|XIRP2_uc010fpo.3_Missense_Mutation_p.N335S|XIRP2_uc002udy.3_Missense_Mutation_p.N160S|XIRP2_uc010fpq.3_Missense_Mutation_p.N113S|XIRP2_uc010fpr.3_Missense_Mutation_p.N113S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	160					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGGAAGTAAACCAAGCATCT	0.308000														67			25		0	0	0.00106085	0	0
ADAP2	55803	broad.mit.edu	37	17	29283285	29283285	+	Silent	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:29283285T>C	uc010csk.3	+	9	1206	c.927T>C	c.(925-927)ttT>ttC	p.F309F	ADAP2_uc002hfy.3_Silent_p.F302F|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.F303F	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	303	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCCAGGTTTTTCTTGGGAACA	0.592000														45			10		0	0	0.000978159	0	0
MRAP2	112609	broad.mit.edu	37	6	84765113	84765113	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:84765113G>A	uc003pkg.4	+	1	266	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	26					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGGGAATATGAATATTATGA	0.383000														54			13		0	0	0.00136819	0	0
DPP6	1804	broad.mit.edu	37	7	154585800	154585800	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:154585800T>C	uc003wlk.3	+	10	1277	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T	DPP6_uc003wli.3_Missense_Mutation_p.I319T|DPP6_uc003wlm.3_Missense_Mutation_p.I321T|DPP6_uc011kvq.2_Missense_Mutation_p.I276T	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	383					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGTACTACATCACCATGGTG	0.652000														18			19		0	0	0.00152264	0	0
ACAD10	80724	broad.mit.edu	37	12	112182825	112182825	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:112182825C>T	uc009zvx.3	+	13	2386	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	ACAD10_uc001tsp.3_Missense_Mutation_p.S698F|ACAD10_uc001tsq.3_Missense_Mutation_p.S698F|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	698							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.S698F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGAGCCCCTCCCCACTGATC	0.602000														30			13		0	0	0.00244969	0	0
KCNA6	3742	broad.mit.edu	37	12	4920465	4920466	+	Missense_Mutation	DNP	AT	TG	TG			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:4920465_4920466AT>TG	uc001qng.3	+	0	2124_2125	c.1258_1259AT>TG	c.(1258-1260)atg>TGg	p.M420W	KCNA6_uc021qtr.1_Missense_Mutation_p.M420W	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	420						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T419T(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGTGGTTACAATGACCACGGTA	0.584000										HNSCC(72;0.22)				68			34		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					45			45		0	0	0.000781405	0	0
OR2G6	391211	broad.mit.edu	37	1	248685082	248685082	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:248685082C>T	uc001ien.1	+	0	135	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L45I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACTGCCCTCATACTAGTAT	0.478000														49			40		0	0	0.000953801	0	0
MVP	9961	broad.mit.edu	37	16	29857188	29857188	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:29857188G>A	uc002dui.3	+	11	2178	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.E676K|MVP_uc010vea.2_Missense_Mutation_p.E270K	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	676					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTCCAGGCATGAGGCTCAGAG	0.642000														17			11		0	0	0.000978159	0	0
NEK4	6787	broad.mit.edu	37	3	52780790	52780790	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:52780790T>C	uc003dfq.4	-	8	1840	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	NEK4_uc011bej.2_Missense_Mutation_p.H457R|NEK4_uc003dfr.3_Missense_Mutation_p.H500R	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	546					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTCCCCTCTGTGCTCAGTCTG	0.483000														38			24		0	0	0.00106085	0	0
PRKDC	5591	broad.mit.edu	37	8	48842431	48842431	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:48842431C>T	uc003xqi.3	-	17	2091	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	PRKDC_uc003xqj.3_Silent_p.K678K	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	678					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATTTTATTTTCTTGGCATTTC	0.318000								Non-homologous end-joining						29			10		0	0	0.000978159	0	0
KRT6A	3853	broad.mit.edu	37	12	52881529	52881529	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:52881529G>A	uc001sam.3	-	8	1879	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	557	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCCTGCTGGAGGAGGAGGT	0.602000														56			22		0	0	0.00127121	0	0
ITGA8	8516	broad.mit.edu	37	10	15639298	15639298	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:15639298C>T	uc001ioc.1	-	21	2119	c.2119_splice	c.e21-1	p.G707_splice	ITGA8_uc010qcb.1_Splice_Site_p.G692_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	707					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTCGAAATCCCTACAATTGC	0.498000														31			22		0	0	0.00229938	0	0
PJA1	64219	broad.mit.edu	37	X	68381749	68381749	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:68381749G>A	uc022byl.1	-	0	1333	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	PJA1_uc004dxg.3_Nonsense_Mutation_p.R257*|PJA1_uc004dxh.3_Nonsense_Mutation_p.R445*|PJA1_uc004dxi.3_Nonsense_Mutation_p.R390*|PJA1_uc011mpi.2_Nonsense_Mutation_p.R163*	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	445							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GATGGTTCTCGAACTTCTTCA	0.577000														88			51		0	0	0.000781405	0	0
TMC2	117532	broad.mit.edu	37	20	2591073	2591073	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:2591073C>T	uc002wgf.1	+	11	1437	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	TMC2_uc002wgg.1_Silent_p.I458I|TMC2_uc010zpw.1_Silent_p.I306I|TMC2_uc010zpx.1_Silent_p.I305I	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	474						integral to membrane		p.E473D(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGTAGAGATCGTGATGTCCC	0.512000														126			37		0	0	0.0025221	0	0
PAPPA2	60676	broad.mit.edu	37	1	176758969	176758969	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:176758969G>A	uc001gkz.3	+	17	5904	c.4740G>A	c.(4738-4740)ctG>ctA	p.L1580L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1580	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1580Q(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACAATGCCTGGAAGGTGGAA	0.448000														7			18		0	0	0.000566183	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847966	18847966	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:18847966C>T	uc021qvx.1	-	11	1530	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	PLCZ1_uc001rdv.4_Missense_Mutation_p.G343R|PLCZ1_uc001rdw.4_Missense_Mutation_p.G188R|PLCZ1_uc001rdu.1_Missense_Mutation_p.G229R|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	447	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAAAATTTCCCATTTTGCAGA	0.343000														44			12		0	0	0.00136819	0	0
OR5D18	219438	broad.mit.edu	37	11	55587319	55587319	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:55587319T>A	uc010rin.2	+	0	214	c.214T>A	c.(214-216)Ttc>Atc	p.F72I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTTGTGGATTTCTGCTATTC	0.408000														107			56		0	0	0.000781405	0	0
KLHL32	114792	broad.mit.edu	37	6	97561953	97561953	+	Missense_Mutation	SNP	C	T	T	rs35641414		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:97561953C>T	uc010kcm.1	+	6	1394	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	KLHL32_uc003poy.3_Missense_Mutation_p.R308W|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.R272W|KLHL32_uc011eae.1_Missense_Mutation_p.R239W|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	308								p.R308W(2)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAAGGAACTTCGGTACTTCAA	0.527000														53			24		0	0	0.00229938	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166422	9166422	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:9166422C>T	uc003brf.1	-	1	923	c.247G>A	c.(247-249)Gag>Aag	p.E83K	SRGAP3_uc003brg.1_Missense_Mutation_p.E83K|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Missense_Mutation_p.E83K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	83	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AACTGGTGCTCCCGGGAGCTG	0.592000			T	RAF1	pilocytic astrocytoma									41			23		0	0	0.00047179	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303936	151303936	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:151303936G>A	uc022cgz.1	-	0	157	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P53S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P53S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P53S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	53										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					gaggaggagggaaaagaggat	0.557000														47			12		0	0	0.000978159	0	0
CENPT	80152	broad.mit.edu	37	16	67865769	67865769	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:67865769G>A	uc002eun.4	-	7	960	c.411C>T	c.(409-411)ctC>ctT	p.L137L	CENPT_uc010vkc.2_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Silent_p.L34L	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	137					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGGGGGGCTCGAGCTCAGGAA	0.577000														22			17		0	0	0.00121646	0	0
VSTM1	284415	broad.mit.edu	37	19	54561647	54561647	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:54561647C>T	uc002qcw.4	-	2	444	c.268G>A	c.(268-270)Gat>Aat	p.D90N	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Intron|VSTM1_uc002qcx.4_Missense_Mutation_p.D90N|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Intron	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	90	Ig-like V-type.					integral to membrane		p.K89N(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CTCCCAGCATCCTTAGGCTTC	0.532000														92			21		0	0	0.00152264	0	0
C15orf2	23742	broad.mit.edu	37	15	24921643	24921643	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:24921643G>A	uc001ywo.3	+	0	1103	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	210					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCTGGAGGGAAATGTCTAC	0.612000														29			8		0	0	0.000442599	0	0
SNRNP200	23020	broad.mit.edu	37	2	96968966	96968966	+	Silent	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:96968966G>T	uc002svu.3	-	2	444	c.312C>A	c.(310-312)ccC>ccA	p.P104P		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	104						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTTTAGTTTTGGGCTTGTAGA	0.478000														337			10		6.40141e-05	0.000211572	0.000978159	1	0
PNPLA8	50640	broad.mit.edu	37	7	108154961	108154961	+	Silent	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:108154961T>C	uc003vff.1	-	3	1382	c.975A>G	c.(973-975)gaA>gaG	p.E325E	PNPLA8_uc003vfi.1_Silent_p.E225E|PNPLA8_uc003vfh.1_Silent_p.E325E|PNPLA8_uc003vfj.1_Silent_p.E325E|PNPLA8_uc003vfk.1_Silent_p.E225E	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	325					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TAGCAGGCTCTTCCTGTTCTT	0.438000														136			33		0	0	0.000692331	0	0
ZAN	7455	broad.mit.edu	37	7	100369572	100369572	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:100369572C>T	uc003uwj.3	+	28	5519	c.5354C>T	c.(5353-5355)tCc>tTc	p.S1785F	ZAN_uc003uwk.3_Missense_Mutation_p.S1785F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S362F|ZAN_uc011kke.2_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1785					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGTGCCGCTCCCTGCAGGCC	0.647000														37			8		0	0	0.00307968	0	0
HEPH	9843	broad.mit.edu	37	X	65412096	65412096	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:65412096G>A	uc011moz.2	+	6	1487	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	HEPH_uc004dwn.3_Missense_Mutation_p.M399I|HEPH_uc004dwo.3_Missense_Mutation_p.M129I|HEPH_uc010nkr.3_Missense_Mutation_p.M399I|HEPH_uc011mpa.2_Missense_Mutation_p.M399I	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	396	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.M396I(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGGCCCGATGGGGCATGATG	0.507000														36			14		0	0	0.00074312	0	0
PEG3	5178	broad.mit.edu	37	19	57335917	57335917	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:57335917C>T	uc002qnu.2	-	0	458	c.107G>A	c.(106-108)gGa>gAa	p.G36E	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G36E|PEG3_uc002qnv.2_Missense_Mutation_p.G36E|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.G36E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	36					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGACCTTCTCCTATGATGAC	0.478000														50			23		0	0	0.00188189	0	0
TRHR	7201	broad.mit.edu	37	8	110131314	110131314	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:110131314C>T	uc003ymz.4	+	1	916	c.827C>T	c.(826-828)gCc>gTc	p.A276V		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	276						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATTCTGTTTGCCCTTTTATGG	0.403000														175			80		0	0	0.000781405	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368313	74368313	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:74368313C>T	uc002axa.1	-	7	619	c.578G>A	c.(577-579)aGa>aAa	p.R193K		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	193										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GACCGCTTCTCTGCAGCTCGA	0.562000														103			21		0	0	0.000586117	0	0
AHSG	197	broad.mit.edu	37	3	186338685	186338685	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:186338685C>T	uc003fqk.4	+	6	1151	c.1070C>T	c.(1069-1071)cCa>cTa	p.P357L		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	357					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTGGTTCCTCCATGTCCGGGG	0.562000														27			12		0	0	0.000978159	0	0
NWD1	284434	broad.mit.edu	37	19	16859961	16859961	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:16859961G>A	uc002neu.4	+	5	930	c.508G>A	c.(508-510)Gag>Aag	p.E170K	NWD1_uc002net.4_Missense_Mutation_p.E35K|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.E35K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	170							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTGAGTGGGAGATAGAGCG	0.542000														22			6		0	0	0.00198382	0	0
FNDC7	163479	broad.mit.edu	37	1	109271474	109271474	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:109271474G>A	uc001dvx.3	+	7	1590	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	FNDC7_uc010ova.2_Silent_p.R297R	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	531	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGGCAGGACGGAGCCTGCCCA	0.562000														36			14		0	0	0.000422831	0	0
UNC13C	440279	broad.mit.edu	37	15	54792317	54792317	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:54792317G>A	uc021smr.1	+	18	5095	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K	UNC13C_uc021sms.1_Missense_Mutation_p.E1701K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1701	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATGAAAACGAAGATGTGTC	0.348000														25			10		0	0	0.00244969	0	0
KNTC1	9735	broad.mit.edu	37	12	123034322	123034322	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:123034322C>T	uc001ucv.3	+	12	1160	c.997C>T	c.(997-999)Ctc>Ttc	p.L333F	KNTC1_uc010taf.2_Missense_Mutation_p.L296F	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	333					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GATGAAAAACCTCATGGTTTA	0.308000														8			3		0	0	6.4e-05	0	0
KRT10	3858	broad.mit.edu	37	17	38978776	38978776	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:38978776C>T	uc002hvi.3	-	0	88	c.62G>A	c.(61-63)gGa>gAa	p.G21E	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	21	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				tcctcctcctcctcctcctcc	0.552000														17			9		0	0	0.000274275	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737683	62737683	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:62737683G>A	uc011abt.2	-	0	502	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	168						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CAGACACACAGGCTGGCGACC	0.652000														26			7		0	0	0.000442599	0	0
DSC1	1823	broad.mit.edu	37	18	28710596	28710596	+	Missense_Mutation	SNP	C	T	T	rs147309022		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:28710596C>T	uc002kwn.3	-	15	2828	c.2566G>A	c.(2566-2568)Ggt>Agt	p.G856S	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	856					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCCAGAGAACCTTTGCCTTCA	0.438000														62			23		0	0	0.00229938	0	0
VAMP7	6845	broad.mit.edu	37	X	155127812	155127812	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:155127812G>A	uc004fnr.3	+	3	419	c.241G>A	c.(241-243)Gag>Aag	p.E81K	VAMP7_uc011naa.2_Missense_Mutation_p.E42K|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Missense_Mutation_p.E40K|VAMP7_uc004fns.3_Missense_Mutation_p.E81K|VAMP7_uc011nac.2_Missense_Mutation_p.E14K	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	81	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTTCTGAATGAGATAAAGAA	0.398000														86			15		0	0	0.00074312	0	0
INSL6	11172	broad.mit.edu	37	9	5164194	5164194	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:5164194C>T	uc003zix.3	-	1	377	c.361G>A	c.(361-363)Gga>Aga	p.G121R		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	121						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GGTGAATATCCCTTTTTATCC	0.348000														29			78		0	0	0.000781405	0	0
PRX	57716	broad.mit.edu	37	19	40902141	40902141	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:40902141G>A	uc002onr.3	-	6	2387	c.2118C>T	c.(2116-2118)ctC>ctT	p.L706L	PRX_uc002onq.3_Silent_p.L567L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	706	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			GCACCTCTGGGAGGTGCACAT	0.567000														117			19		0	0	0.00278032	0	0
TRPC4	7223	broad.mit.edu	37	13	38225576	38225576	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr13:38225576C>T	uc010abx.3	-	7	2140	c.1905G>A	c.(1903-1905)tgG>tgA	p.W635*	TRPC4_uc010abv.3_Nonsense_Mutation_p.W215*|TRPC4_uc001uwt.3_Nonsense_Mutation_p.W635*|TRPC4_uc001uws.3_Nonsense_Mutation_p.W635*|TRPC4_uc010tey.2_Nonsense_Mutation_p.W635*|TRPC4_uc010abw.3_Nonsense_Mutation_p.W462*|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	635	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGCAAATTTCCATTCTATAT	0.428000														27			11		0	0	0.000978159	0	0
CYLC1	1538	broad.mit.edu	37	X	83128367	83128367	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:83128367G>A	uc004eei.1	+	3	672	c.651G>A	c.(649-651)aaG>aaA	p.K217K	CYLC1_uc004eeh.1_Silent_p.K216K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	217					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TACATACAAAGAACAATCCAA	0.308000														29			5		0	0	0.000602214	0	0
OR4A16	81327	broad.mit.edu	37	11	55110948	55110948	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:55110948C>T	uc010rie.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCGCTATTTCCTTGTCAGCT	0.438000														94			62		0	0	0.000781405	0	0
ACTN2	88	broad.mit.edu	37	1	236914939	236914940	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:236914939_236914940CC>TT	uc001hyf.2	+	14	2030_2031	c.1826_1827CC>TT	c.(1825-1827)acc>aTT	p.T609I	ACTN2_uc001hyg.2_Missense_Mutation_p.T401I|ACTN2_uc009xgi.1_Missense_Mutation_p.T609I|ACTN2_uc010pxu.1_Missense_Mutation_p.T298I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	609					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCTCCGGACCAAGTGGGACA	0.564000														51			9		0	0	6.4e-05	0	0
SLC6A13	6540	broad.mit.edu	37	12	344336	344336	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:344336G>A	uc001qic.2	-	6	841	c.751C>T	c.(751-753)Cga>Tga	p.R251*	SLC6A13_uc009zdj.2_Nonsense_Mutation_p.R251*|SLC6A13_uc010sdl.2_Nonsense_Mutation_p.R159*|SLC6A13_uc010sdm.1_Nonsense_Mutation_p.R132*	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	251					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTCACCCCTCGAATTAACAGG	0.537000														21			14		0	0	0.00185496	0	0
ATF7	11016	broad.mit.edu	37	12	53928439	53928439	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:53928439A>G	uc001sdy.3	-	4	461	c.440T>C	c.(439-441)gTt>gCt	p.V147A	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.V136A|ATF7_uc010sol.2_Missense_Mutation_p.V115A	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	147	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CTTTGGGGTAACCTCCTGGAG	0.433000														45			11		0	0	0.000978159	0	0
DCC	1630	broad.mit.edu	37	18	50731625	50731625	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:50731625C>T	uc002lfe.2	+	9	2229	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	DCC_uc010xdr.1_Missense_Mutation_p.S386F|DCC_uc010dpf.2_Missense_Mutation_p.S193F	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	538	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAGCTGTATCTACCTCACCT	0.423000														131			50		0	0	0.000781405	0	0
ATM	472	broad.mit.edu	37	11	108213955	108213955	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:108213955C>T	uc001pkb.1	+	56	8660	c.8275C>T	c.(8275-8277)Ccc>Tcc	p.P2759S	ATM_uc009yxr.1_Missense_Mutation_p.P2759S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.P1411S	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2759	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCAGGTGGTTCCCCTCTCTCA	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				70			44		0	0	0.000781405	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891911	18891911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:18891911C>T	uc001rdy.3	+	0	867	c.709C>T	c.(709-711)Caa>Taa	p.Q237*	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	237					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAACAAATTTCAAGCTGCAGT	0.423000														48			23		0	0	0.00278032	0	0
TLL1	7092	broad.mit.edu	37	4	166996071	166996071	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:166996071G>A	uc003irh.2	+	16	2877	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	TLL1_uc011cjn.2_Missense_Mutation_p.E767K|TLL1_uc011cjo.2_Missense_Mutation_p.E568K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	744	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGTCAGCACGAATGTGTCAA	0.393000														65			23		0	0	0.00229938	0	0
ATP4A	495	broad.mit.edu	37	19	36046380	36046380	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:36046380G>A	uc002oal.1	-	13	2148	c.2119C>T	c.(2119-2121)Cag>Tag	p.Q707*	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	707					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCTTCTGCTGGGGGCTGGTG	0.662000														20			13		0	0	0.00136819	0	0
SLC4A10	57282	broad.mit.edu	37	2	162660961	162660961	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:162660961C>T	uc002ubx.4	+	2	317	c.133C>T	c.(133-135)Cat>Tat	p.H45Y	SLC4A10_uc010fpa.1_Missense_Mutation_p.H57Y|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.H56Y|SLC4A10_uc002uby.4_Missense_Mutation_p.H45Y	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	45					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTATGAAGGTCATCGAACACT	0.388000														23			9		0	0	0.000978159	0	0
MSH3	4437	broad.mit.edu	37	5	80057454	80057454	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:80057454T>G	uc003kgz.3	+	12	2106	c.1853T>G	c.(1852-1854)tTg>tGg	p.L618W		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	618					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTACGTAAATTGCCCGACATA	0.393000								Mismatch excision repair (MMR)						28			11		0	0	0.00244969	0	0
PREX2	80243	broad.mit.edu	37	8	69020350	69020350	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:69020350C>T	uc003xxv.1	+	23	2749	c.2722C>T	c.(2722-2724)Cgt>Tgt	p.R908C	PREX2_uc011lez.1_Missense_Mutation_p.R843C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	908					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGTTTTCTCGTGTACTGAA	0.393000														26			7		0	0	0.00198382	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:7577082C>T	uc002gim.2	-	7	1050	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(114)|p.E285K(107)|p.E286*(40)|p.E285*(20)|p.E286G(16)|p.E285V(14)|p.E286Q(10)|p.E286V(8)|p.0?(8)|p.E285G(5)|p.E285Q(4)|p.E286fs*59(4)|p.E286fs*17(4)|p.E285E(3)|p.E285_N288delEEEN(2)|p.E285A(2)|p.R282_E287delRRTEEE(2)|p.T284_G293del10(2)|p.E285fs*13(2)|p.?(2)|p.L265_K305del41(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.V272_K292del21(2)|p.E285_L289delEEENL(2)|p.G279fs*59(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.E285fs*60(1)|p.E285fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				28			6		0	0	0.00307968	0	0
KCTD19	146212	broad.mit.edu	37	16	67327935	67327935	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:67327935C>T	uc002esu.2	-	11	1781	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	KCTD19_uc002est.2_Missense_Mutation_p.R349Q|KCTD19_uc010vjj.1_Missense_Mutation_p.R320Q	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	577						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTTGGCATTTCGGCATAGGGA	0.582000														104			59		0	0	0.000781405	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:22369378C>T	uc010tzu.2	+	0	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000														118			26		0	0	0.00106085	0	0
VPS39	23339	broad.mit.edu	37	15	42458803	42458803	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:42458803G>A	uc001zpd.3	-	15	1748	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	VPS39_uc001zpc.3_Silent_p.L522L|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	533					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGCCTTTCAGAGGGGAGTTG	0.557000														41			9		0	0	0.000442599	0	0
ANK3	288	broad.mit.edu	37	10	61830452	61830452	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:61830452G>T	uc001jky.3	-	36	10525	c.10187C>A	c.(10186-10188)tCc>tAc	p.S3396Y	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3396					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTGGCAATGGAACACTCTGT	0.468000														43			32		4.62619e-21	1.55001e-20	0.000814825	1	0
PTPRT	11122	broad.mit.edu	37	20	41514563	41514563	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:41514563G>A	uc002xkg.3	-	1	282	c.98C>T	c.(97-99)tCc>tTc	p.S33F	PTPRT_uc010ggj.3_Missense_Mutation_p.S33F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	33	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCATCAAAGGAACAGCCACC	0.478000														47			27		0	0	0.00127121	0	0
TNN	63923	broad.mit.edu	37	1	175097186	175097186	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:175097186G>A	uc001gkl.1	+	13	3177	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1022	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGGGACGGGAAGACCAGAG	0.552000														70			18		0	0	0.00074312	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760988	62760988	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:62760988C>T	uc009yon.3	-	9	1558	c.1437G>A	c.(1435-1437)ggG>ggA	p.G479G	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.G356G|SLC22A8_uc001nwo.3_Silent_p.G479G|SLC22A8_uc010rmm.2_Silent_p.G388G|SLC22A8_uc001nwp.2_Silent_p.G479G	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	479				YGI -> FTGS (in Ref. 1; AAD19357).	response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCGGTGATCCCGTAGATGA	0.582000														54			11		0	0	0.00185496	0	0
TSSK4	283629	broad.mit.edu	37	14	24677292	24677292	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:24677292G>A	uc001wnh.3	+	3	1161	c.957G>A	c.(955-957)gaG>gaA	p.E319E	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Silent_p.E233E|TSSK4_uc001wnf.3_Silent_p.E239E|TSSK4_uc001wng.3_Silent_p.E309E	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	309					cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GGCTGCTTGAGGCCATGTGCC	0.542000														27			14		0	0	0.00244969	0	0
FAAH2	158584	broad.mit.edu	37	X	57318998	57318998	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:57318998G>A	uc004dvc.3	+	1	409	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	87						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCAATGGAATTGTCAAG	0.393000										HNSCC(52;0.14)				41			33		0	0	0.00209593	0	0
DDX53	168400	broad.mit.edu	37	X	23018769	23018769	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:23018769G>A	uc004daj.3	+	0	692	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	199						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTGGAGAAAGGAAAATTTCAA	0.388000														86			36		0	0	0.00148497	0	0
TRHDE	29953	broad.mit.edu	37	12	72863634	72863634	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:72863634C>T	uc001sxa.3	+	3	1307	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	426					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.V425A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCAGTGTTTCATCTATTTCT	0.393000														46			12		0	0	0.00185496	0	0
CLMN	79789	broad.mit.edu	37	14	95670789	95670789	+	Silent	SNP	G	A	A	rs143079668		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:95670789G>A	uc001yef.2	-	8	1013	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	299						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TATCTGAATCGAAAATATCTT	0.333000														21			14		0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179489390	179489390	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:179489390C>T	uc021vsy.1	-	190	37138	c.36913G>A	c.(36913-36915)Gag>Aag	p.E12305K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E6000K|TTN_uc021vta.1_Missense_Mutation_p.E5933K|TTN_uc021vtb.1_Missense_Mutation_p.E5808K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13232	Ig-like 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P12304S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCACACTCCAGCACTGCA	0.453000														58			31		0	0	0.001512	0	0
HECW1	23072	broad.mit.edu	37	7	43484587	43484587	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:43484587G>A	uc003tid.1	+	10	2421	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	HECW1_uc011kbi.1_Missense_Mutation_p.V606M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	606					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.T606T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTGGACACGGTGGCCGCTGA	0.711000														14			9		0	0	0.000442599	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779432	117779432	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:117779432C>T	uc001prs.2	-	8	1323	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	TMPRSS13_uc009yzr.2_Missense_Mutation_p.E358K|TMPRSS13_uc021qrc.1_Missense_Mutation_p.E393K|TMPRSS13_uc001prt.1_Missense_Mutation_p.E72K|TMPRSS13_uc001pru.2_Missense_Mutation_p.E393K	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	388	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GAGGCTGCCTCAGGCAACTGG	0.597000														18			4		0	0	0.00198382	0	0
MYH3	4621	broad.mit.edu	37	17	10552993	10552993	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:10552993G>A	uc002gmq.2	-	6	631	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	181	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCCTGCCCCGGATTCTCCGC	0.478000														39			28		0	0	0.00178596	0	0
PTPRA	5786	broad.mit.edu	37	20	2969051	2969051	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:2969051G>A	uc010zqd.2	+	7	1019	c.702G>A	c.(700-702)gtG>gtA	p.V234V	PTPRA_uc002whj.3_Silent_p.V223V|PTPRA_uc010zqc.1_Silent_p.V108V|PTPRA_uc002whk.3_Silent_p.V214V|PTPRA_uc002whl.3_Silent_p.V214V|PTPRA_uc002whm.3_5'UTR|PTPRA_uc002whn.3_Silent_p.V214V|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	223					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCCTGCCCGTGGACAAGCTGG	0.527000														44			25		0	0	0.000586117	0	0
TAT	6898	broad.mit.edu	37	16	71610089	71610089	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:71610089G>A	uc002fap.2	-	1	329	c.230C>T	c.(229-231)tCc>tTc	p.S77F	TAT_uc002faq.3_Missense_Mutation_p.S77F|TAT_uc002far.3_Missense_Mutation_p.S77F	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	77					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CTCACCAATGGACAGGGAAAT	0.502000														16			7		0	0	0.00198382	0	0
POM121L12	285877	broad.mit.edu	37	7	53103666	53103666	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:53103666C>T	uc003tpz.3	+	0	318	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	101										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGCGCCCTGCCCTTCCCGGG	0.726000														26			12		0	0	0.000978159	0	0
SYT11	23208	broad.mit.edu	37	1	155838375	155838375	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:155838375C>T	uc001fmg.3	+	1	947	c.654C>T	c.(652-654)acC>acT	p.T218T	SYT11_uc010pgq.2_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	218	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGCGGAAGACCCTGGACCCTG	0.557000														49			12		0	0	0.000978159	0	0
DNAH8	1769	broad.mit.edu	37	6	38830135	38830135	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:38830135G>A	uc021yzh.1	+	43	6320	c.6211G>A	c.(6211-6213)Gaa>Aaa	p.E2071K	DNAH8_uc003ooe.2_Missense_Mutation_p.E1854K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGCAAAACAGAAACCACAAA	0.463000														67			35		0	0	0.000814825	0	0
POLE	5426	broad.mit.edu	37	12	133226033	133226033	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:133226033G>A	uc001uks.1	-	30	3908	c.3864C>T	c.(3862-3864)gcC>gcT	p.A1288A	POLE_uc001ukr.1_Silent_p.A92A|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A1261A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1288					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTTCCTGCGGGCGAGGCGCT	0.657000								DNA polymerases (catalytic subunits)						54			6		0	0	0.00307968	0	0
DDOST	1650	broad.mit.edu	37	1	20980210	20980210	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:20980210C>T	uc001bdo.1	-	7	1046	c.903G>A	c.(901-903)aaG>aaA	p.K301K	DDOST_uc010odd.1_Silent_p.K100K|DDOST_uc010ode.1_Silent_p.K264K	NM_005216	NP_005207	P39656	OST48_HUMAN	Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA.	301					T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACCCTCCTCCTTGAACACCC	0.597000														22			11		0	0	0.000673444	0	0
RIMS2	9699	broad.mit.edu	37	8	104897590	104897590	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:104897590G>A	uc003yls.3	+	1	338	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	RIMS2_uc003ylp.3_Missense_Mutation_p.E255K|RIMS2_uc003ylw.2_Missense_Mutation_p.E63K|RIMS2_uc003ylq.3_Missense_Mutation_p.E63K|RIMS2_uc003ylr.3_Missense_Mutation_p.E63K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	286	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAAAGAGAGGAATATTCACA	0.413000										HNSCC(12;0.0054)				23			12		0	0	0.00185496	0	0
BAG6	7917	broad.mit.edu	37	6	31615563	31615563	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:31615563G>A	uc003nvg.4	-	6	925	c.611C>T	c.(610-612)cCg>cTg	p.P204L	BAG6_uc003nvf.4_Missense_Mutation_p.P198L|BAG6_uc003nvi.4_Missense_Mutation_p.P198L|BAG6_uc003nvh.4_Missense_Mutation_p.P198L|BAG6_uc011dnw.2_Missense_Mutation_p.P198L|BAG6_uc011dnx.2_Missense_Mutation_p.P198L	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	204	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P198Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGGTGGCTGCGGGGGCGGCTG	0.602000														337			155		0	0	0.000781405	0	0
LINS	55180	broad.mit.edu	37	15	101109526	101109526	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:101109526G>A	uc002bwg.3	-	6	2414	c.2191C>T	c.(2191-2193)Ctt>Ttt	p.L731F	LINS_uc002bwd.3_Missense_Mutation_p.L318F	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	731										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TATGGGAAAAGATTTTTCTTT	0.328000														79			29		0	0	0.00178596	0	0
MUC16	94025	broad.mit.edu	37	19	9090789	9090789	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:9090789C>T	uc002mkp.3	-	0	1230	c.1026G>A	c.(1024-1026)agG>agA	p.R342R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	342	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTTCTGACCCTTTCGGCAC	0.512000														33			4		0	0	0.00024832	0	0
FREM1	158326	broad.mit.edu	37	9	14804986	14804986	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:14804986C>T	uc003zlm.3	-	19	4255	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1147					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGGAGCTTCATCATTTGTG	0.363000														31			25		0	0	0.000586117	0	0
MB21D2	151963	broad.mit.edu	37	3	192517371	192517371	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:192517371G>C	uc011bsp.2	-	1	601	c.280C>G	c.(280-282)Cgg>Ggg	p.R94G		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	94										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ACGCCTTCCCGGACACCTCCA	0.473000														25			12		0	0	0.00244969	0	0
ACTN2	88	broad.mit.edu	37	1	236923026	236923026	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:236923026G>A	uc001hyf.2	+	18	2508	c.2304G>A	c.(2302-2304)agG>agA	p.R768R	ACTN2_uc001hyg.2_Silent_p.R560R|ACTN2_uc009xgi.1_Silent_p.R768R|ACTN2_uc010pxu.1_Silent_p.R457R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	768	EF-hand 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCAACAGAGGAAGAATGGCC	0.433000														56			40		0	0	0.000680045	0	0
DSP	1832	broad.mit.edu	37	6	7583542	7583542	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:7583542G>A	uc003mxp.1	+	23	6326	c.6047G>A	c.(6046-6048)gGa>gAa	p.G2016E	DSP_uc003mxq.1_Missense_Mutation_p.G1417E|DSP_uc021yle.1_Missense_Mutation_p.G1573E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2016	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGGGGTGCAGGATCTATCGCT	0.453000														51			18		0	0	0.000566183	0	0
AGPAT3	56894	broad.mit.edu	37	21	45402199	45402199	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr21:45402199C>T	uc002zdx.3	+	10	1983	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	AGPAT3_uc002zdv.3_Missense_Mutation_p.R353C|AGPAT3_uc002zdw.3_Missense_Mutation_p.R353C|AGPAT3_uc002zdy.3_Missense_Mutation_p.R291C	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	353					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448000														171			62		0	0	0.000781405	0	0
DSG3	1830	broad.mit.edu	37	18	29046579	29046579	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:29046579G>A	uc002kws.3	+	10	1607	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	500					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCGAAAAAGATGCAGTTTG	0.428000														100			40		0	0	0.00128727	0	0
FSCN3	29999	broad.mit.edu	37	7	127235455	127235455	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:127235455G>C	uc003vmd.2	+	1	458	c.239G>C	c.(238-240)gGc>gCc	p.G80A	FSCN3_uc003vmc.1_Missense_Mutation_p.G35A|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.G80A	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	80						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GAGTGTGATGGCACCGTGTGT	0.577000														71			19		0	0	0.00152264	0	0
SLC35F5	80255	broad.mit.edu	37	2	114486999	114486999	+	Silent	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:114486999A>G	uc002tku.1	-	10	1483	c.1069T>C	c.(1069-1071)Ttg>Ctg	p.L357L	SLC35F5_uc002tkt.3_Non-coding_Transcript	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	357					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GGAATATCCAACTTGTCTTCT	0.353000														37			6		0	0	0.00116845	0	0
SSH1	54434	broad.mit.edu	37	12	109186493	109186494	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:109186493_109186494GG>AA	uc001tnm.3	-	13	1548_1549	c.1461_1462CC>TT	c.(1459-1464)accccg>acTTcg	p.P488S	SSH1_uc001tnl.3_Missense_Mutation_p.P176S|SSH1_uc010sxg.2_Missense_Mutation_p.P499S|SSH1_uc001tnn.4_Missense_Mutation_p.P488S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	488					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P488P(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCTTTCCGGGGTGCCATCTG	0.644000														44			20		0	0	6.4e-05	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075723	145075723	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:145075723G>A	uc001elo.3	-	0	464	c.140C>T	c.(139-141)cCg>cTg	p.P47L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Missense_Mutation_p.P47L|PDE4DIP_uc001emk.3_Non-coding_Transcript	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA.	721					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R47Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCCGGCTCGGGGTCTGCCG	0.716000			T	PDGFRB	MPD									99			10		0	0	0.000673444	0	0
OR5M1	390168	broad.mit.edu	37	11	56380724	56380724	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:56380724G>A	uc001nja.1	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F85F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTTCTGAGAGGAAATTGTGCA	0.448000														70			10		0	0	0.000442599	0	0
TBX15	6913	broad.mit.edu	37	1	119466105	119466105	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:119466105A>T	uc001ehl.1	-	4	812	c.497T>A	c.(496-498)tTt>tAt	p.F166Y		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	272						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGTCTCAGGAAAGTTGAACGT	0.483000														32			18		0	0	0.00074312	0	0
CUL5	8065	broad.mit.edu	37	11	107965615	107965615	+	Silent	SNP	T	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:107965615T>A	uc001pjv.3	+	14	2311	c.1644T>A	c.(1642-1644)ccT>ccA	p.P548P	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	548					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TCTCACTTCCTACTGAACTGG	0.358000														52			8		0	0	0.000274275	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973826	69973826	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:69973826C>T	uc003heg.4	+	4	1142	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S	UGT2B7_uc010ihq.3_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	366					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTAGGTCATCCAAAGACCAG	0.418000														72			31		0	0	0.00178596	0	0
FMO1	2326	broad.mit.edu	37	1	171254677	171254677	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:171254677C>T	uc009wvz.3	+	8	1729	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	FMO1_uc010pme.2_Silent_p.F468F|FMO1_uc001ghl.3_Silent_p.F531F|FMO1_uc001ghm.3_Silent_p.F531F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	531					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCTGATTTTCCTATAAGTAA	0.363000														30			14		0	0	0.00244969	0	0
ANKRD28	23243	broad.mit.edu	37	3	15719851	15719851	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:15719851G>A	uc003caj.1	-	23	2625	c.2482C>T	c.(2482-2484)Cat>Tat	p.H828Y	ANKRD28_uc003cai.1_Missense_Mutation_p.H674Y|ANKRD28_uc011avz.1_Missense_Mutation_p.H674Y|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc011avy.1_5'Flank	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	828						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCGGCTGCATGGAGAGGAGTT	0.363000														61			9		0	0	0.00136819	0	0
LTBP1	4052	broad.mit.edu	37	2	33525539	33525539	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:33525539G>A	uc021vft.1	+	20	3280	c.3257G>A	c.(3256-3258)gGg>gAg	p.G1086E	LTBP1_uc002rou.3_Missense_Mutation_p.G760E|LTBP1_uc002rov.3_Missense_Mutation_p.G707E|LTBP1_uc010ymz.2_Missense_Mutation_p.G760E|LTBP1_uc010yna.2_Missense_Mutation_p.G707E|LTBP1_uc010ynb.2_Missense_Mutation_p.G26E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1086	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTCAGCAAGGGAATCTATGT	0.488000														44			19		0	0	0.00278032	0	0
NLRP4	147945	broad.mit.edu	37	19	56369333	56369333	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:56369333G>A	uc002qmd.4	+	2	996	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	NLRP4_uc002qmf.3_Missense_Mutation_p.E117K|NLRP4_uc010etf.3_Missense_Mutation_p.E23K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	192	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGCTGCAGAGAACTGAGGGA	0.507000														80			34		0	0	0.00058488	0	0
NF1	4763	broad.mit.edu	37	17	29654621	29654621	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:29654621C>T	uc002hgg.3	+	37	5756	c.5373C>T	c.(5371-5373)atC>atT	p.I1791I	NF1_uc002hgh.3_Silent_p.I1770I|NF1_uc002hgi.1_Silent_p.I803I|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1791					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGAAGAAATCTGCCTAGTAG	0.448000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				70			9		0	0	0.000673444	0	0
SMAD3	4088	broad.mit.edu	37	15	67482846	67482846	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:67482846C>T	uc002aqj.3	+	8	1548	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	SMAD3_uc010ujr.2_Missense_Mutation_p.P312L|SMAD3_uc010ujs.2_Missense_Mutation_p.P373L|SMAD3_uc010ujt.2_Missense_Mutation_p.P222L	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	417	MH2.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ATGGGCTCCCCAAGCATCCGC	0.547000														19			15		0	0	0.000566183	0	0
CDH16	1014	broad.mit.edu	37	16	66946411	66946411	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:66946411G>A	uc002eql.3	-	10	1549	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	CDH16_uc010cdy.3_Missense_Mutation_p.S452F|CDH16_uc021tjx.1_Missense_Mutation_p.S452F|CDH16_uc002eqm.3_Missense_Mutation_p.S355F	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	452					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTTACCTGGGAAGTGATGAA	0.577000														42			11		0	0	0.000673444	0	0
SETDB1	9869	broad.mit.edu	37	1	150902529	150902529	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:150902529C>T	uc001evu.2	+	2	537	c.347C>T	c.(346-348)tCt>tTt	p.S116F	SETDB1_uc001evw.4_Missense_Mutation_p.S116F|SETDB1_uc009wmf.2_Missense_Mutation_p.S116F|SETDB1_uc001evv.2_Missense_Mutation_p.S116F|SETDB1_uc009wmg.2_Missense_Mutation_p.S116F	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGACGAATCTTCCCGGCCT	0.448000														80			17		0	0	0.00074312	0	0
TNMD	64102	broad.mit.edu	37	X	99854661	99854661	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:99854661C>T	uc004efy.4	+	6	1127	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	TNMD_uc004efz.2_3'UTR	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	Homo sapiens tenomodulin (TNMD), mRNA.	301						integral to membrane		p.C300F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AGTCATCTGTCGTGTCATCAT	0.507000														30			8		0	0	0.000978159	0	0
HEATR8	374977	broad.mit.edu	37	1	55138821	55138821	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:55138821G>A	uc010ooe.1	+	7	1981	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.E121K|HEATR8_uc010ood.1_Missense_Mutation_p.E71K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.E553K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	553						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTCTTTATCGAGGACCCCAC	0.592000														30			18		0	0	0.00152264	0	0
GPR112	139378	broad.mit.edu	37	X	135428079	135428079	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:135428079T>A	uc004ezu.1	+	5	2505	c.2214T>A	c.(2212-2214)aaT>aaA	p.N738K	GPR112_uc010nsb.1_Missense_Mutation_p.N533K|GPR112_uc010nsc.1_Missense_Mutation_p.N505K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	738					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTTTGCTAATTTCTCCATAG	0.388000														56			13		0	0	0.000308642	0	0
TRIM37	4591	broad.mit.edu	37	17	57125123	57125123	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:57125123G>A	uc002iwy.4	-	15	2032	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	TRIM37_uc002iwz.4_Nonsense_Mutation_p.Q530*|TRIM37_uc002ixa.4_Nonsense_Mutation_p.Q408*|TRIM37_uc010woc.2_Nonsense_Mutation_p.Q496*	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	530						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCATCGAGCTGATTTACTTCA	0.393000									Mulibrey Nanism					24			6		0	0	0.00307968	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336949	42336949	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:42336949C>T	uc002igf.4	-	8	759	c.610_splice	c.e8-1	p.G204_splice	SLC4A1_uc021tyc.1_Splice_Site_p.G204_splice	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	204					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCCCATCTCCCTGTGGGAAG	0.587000														26			7		0	0	0.00307968	0	0
TNXB	7148	broad.mit.edu	37	6	32013006	32013006	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:32013006G>A	uc003nzl.2	-	31	10900	c.10698C>T	c.(10696-10698)acC>acT	p.T3566T	TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Silent_p.T35T	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3613	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGAGTCTGGGGTTGTGTCGG	0.652000														281			46		0	0	0.000781405	0	0
SSPO	23145	broad.mit.edu	37	7	149480322	149480322	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:149480322C>T	uc010lpk.3	+	15	2204	c.2204C>T	c.(2203-2205)cCc>cTc	p.P735L	SSPO_uc010lpl.1_Missense_Mutation_p.P70L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	735	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAAGATGCCCCTCTGAGGAC	0.617000														48			5		0	0	0.00307968	0	0
INTS9	55756	broad.mit.edu	37	8	28627437	28627437	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:28627437G>A	uc003xha.3	-	15	2068	c.1769C>T	c.(1768-1770)cCt>cTt	p.P590L	INTS9_uc011lav.2_Missense_Mutation_p.P566L|INTS9_uc011law.2_Missense_Mutation_p.P569L|INTS9_uc011lax.2_Missense_Mutation_p.P483L|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	590					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CTGCTCCACAGGGATGGAACC	0.607000											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			24		0	0	0.000586117	0	0
SPEF2	79925	broad.mit.edu	37	5	35727804	35727804	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:35727804G>A	uc003jjo.3	+	20	3053	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	SPEF2_uc003jjp.1_Missense_Mutation_p.G467E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	981					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCATCAGGAGGAAAAGTACCA	0.388000														35			17		0	0	0.000422831	0	0
OR2T33	391195	broad.mit.edu	37	1	248436915	248436915	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:248436915C>T	uc010pzi.2	-	0	202	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCATCATGTCCATGAGGGAA	0.552000														138			49		0	0	0.000781405	0	0
LGALS13	29124	broad.mit.edu	37	19	40095889	40095889	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:40095889G>A	uc002omb.3	+	2	204	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	55	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.F54F(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TTCCGTTTCCGAGTGCACTTT	0.498000														53			7		0	0	0.000274275	0	0
METTL2B	55798	broad.mit.edu	37	7	128119282	128119282	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:128119282G>A	uc003vnf.3	+	2	310	c.273G>A	c.(271-273)aaG>aaA	p.K91K	METTL2B_uc003vng.3_Silent_p.K26K|METTL2B_uc011kop.2_5'UTR	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	91							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTTTTTCAAGGATAGACATT	0.348000														47			5		0	0	0.00307968	0	0
RNF133	168433	broad.mit.edu	37	7	122338165	122338165	+	Missense_Mutation	SNP	G	A	A	rs113296018	byFrequency	TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:122338165G>A	uc003vkj.1	-	0	1044	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	270						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.V269I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCAGAATACGAACTATGTCA	0.388000														83			66		0	0	0.000781405	0	0
CER1	9350	broad.mit.edu	37	9	14722193	14722193	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:14722193C>T	uc003zlj.3	-	0	523	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	160					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTGCAGGTCTCCCAATGTACT	0.522000														23			24		0	0	0.000586117	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645838	20645838	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:20645838G>A	uc001ytg.3	-	19	2947	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.I746I|HERC2P3_uc010tyy.2_Silent_p.I746I					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											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						GCGTGAGAGCGATGCTCTGCA	0.612000														12			11		0	0	0.000978159	0	0
C6orf118	168090	broad.mit.edu	37	6	165715373	165715373	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:165715373G>A	uc003qum.4	-	1	474	c.438C>T	c.(436-438)ttC>ttT	p.F146F	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	146										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCACTGGAAGGAAATCCTCCT	0.627000														79			44		0	0	0.000781405	0	0
NPHS1	4868	broad.mit.edu	37	19	36321826	36321826	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:36321826G>A	uc002oby.3	-	27	3670	c.3514C>T	c.(3514-3516)Cct>Tct	p.P1172S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1172	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.P1172S(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGTGCCCAGGGAAGGCCATA	0.562000														51			15		0	0	0.00244969	0	0
CSN2	1447	broad.mit.edu	37	4	70823276	70823276	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:70823276G>A	uc003hes.4	-	4	404	c.391C>T	c.(391-393)Cca>Tca	p.P131S	CSN2_uc003het.4_Missense_Mutation_p.P130S	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	131					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GTGAGTTTTGGGATTTGAGGG	0.468000														45			13		0	0	0.00185496	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563556	228563556	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:228563556A>G	uc002vpi.3	-	2	964	c.875T>C	c.(874-876)tTt>tCt	p.F292S	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.F288S	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	292					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AACCTGGTTAAAACCTGCTGT	0.453000														64			23		0	0	0.00188189	0	0
KANSL3	55683	broad.mit.edu	37	2	97270077	97270077	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:97270077G>A	uc002swn.4	-	16	2205	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	KANSL3_uc002swh.4_Missense_Mutation_p.P573S|KANSL3_uc002swi.4_Missense_Mutation_p.P614S|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.P600S|KANSL3_uc010fhz.3_Missense_Mutation_p.P507S|KANSL3_uc002swl.4_Missense_Mutation_p.P586S|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.P481S|KANSL3_uc002swo.3_Missense_Mutation_p.P35S	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	713																	ACCACTGAAGGGACTGGGCTG	0.582000														41			5		0	0	0.00116845	0	0
NBEA	26960	broad.mit.edu	37	13	36242646	36242646	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr13:36242646C>T	uc021rid.1	+	56	9274	c.8740C>T	c.(8740-8742)Cat>Tat	p.H2914Y	NBEA_uc021ric.1_Missense_Mutation_p.H2911Y|NBEA_uc010abi.3_Missense_Mutation_p.H1572Y|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.H707Y|NBEA_uc001uvd.3_Missense_Mutation_p.H492Y	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2914						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGACTTGTCCCATGACCAGAG	0.493000														21			19		0	0	0.00229938	0	0
HGF	3082	broad.mit.edu	37	7	81392041	81392041	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:81392041C>T	uc003uhl.3	-	1	401	c.236G>A	c.(235-237)gGa>gAa	p.G79E	HGF_uc003uhm.3_Missense_Mutation_p.G79E|HGF_uc003uhn.1_Missense_Mutation_p.G79E|HGF_uc003uho.1_Missense_Mutation_p.G79E|HGF_uc003uhp.3_Missense_Mutation_p.G79E|HGF_uc022agw.1_Missense_Mutation_p.G79E	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	79	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAATGGAAGTCCTTTATTCCT	0.323000														111			23		0	0	0.000878237	0	0
CERS5	91012	broad.mit.edu	37	12	50524370	50524370	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:50524370C>T	uc001rwd.4	-	9	1154	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	CERS5_uc001rwc.3_3'UTR|CERS5_uc001rwe.4_Silent_p.R320R|CERS5_uc001rwf.4_Non-coding_Transcript	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	379					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GACCATTCACCCGATTGGCAC	0.522000														50			38		0	0	0.00128727	0	0
MAPK6	5597	broad.mit.edu	37	15	52356254	52356254	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:52356254A>G	uc002abp.3	+	5	2017	c.1223A>G	c.(1222-1224)aAg>aGg	p.K408R		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	408					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GATCGGGAAAAGTATCTGGAG	0.408000														40			13		0	0	0.00244969	0	0
COL5A2	1290	broad.mit.edu	37	2	189932972	189932972	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:189932972G>A	uc002uqk.3	-	19	1557	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	428					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGGCACCAGGAGTACCATCA	0.408000														95			44		0	0	0.000781405	0	0
USP6	9098	broad.mit.edu	37	17	5048150	5048150	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:5048150G>A	uc002gau.1	+	25	4214	c.1984G>A	c.(1984-1986)Gct>Act	p.A662T	USP6_uc002gav.1_Missense_Mutation_p.A662T|USP6_uc010ckz.1_Missense_Mutation_p.A345T	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	662					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGGGAAGTAGCTGCAGAGGT	0.408000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									64			17		0	0	0.00121646	0	0
MTOR	2475	broad.mit.edu	37	1	11303281	11303281	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:11303281G>A	uc001asd.3	-	8	1423	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	434					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCAGGGCTTGGAAGGCCGCTG	0.522000														58			21		0	0	0.00152264	0	0
ITGA5	3678	broad.mit.edu	37	12	54798666	54798666	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:54798666C>T	uc001sga.3	-	12	1306	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	ITGA5_uc010sow.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	413					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AAAGGGAGCCCCGATGGCCAC	0.582000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			3		0	0	6.4e-05	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166831811	166831811	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:166831811C>T	uc003qvd.1	-	20	2028	c.1915G>A	c.(1915-1917)Ggg>Agg	p.G639R	RPS6KA2_uc011ego.1_Missense_Mutation_p.G525R|RPS6KA2_uc010kkl.1_Missense_Mutation_p.G525R|RPS6KA2_uc003qvb.1_Missense_Mutation_p.G614R|RPS6KA2_uc003qvc.1_Missense_Mutation_p.G622R|RPS6KA2_uc010kkk.1_Missense_Mutation_p.G46R	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	614	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCGTCTGGCCCATTTGCAAAA	0.443000														52			18		0	0	0.000958276	0	0
C9orf89	84270	broad.mit.edu	37	9	95872947	95872948	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:95872947_95872948CC>GT	uc004atd.3	+	2	426_427	c.248_249CC>GT	c.(247-249)gcc>gGT	p.A83G	C9orf89_uc004atf.3_Non-coding_Transcript	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	Homo sapiens chromosome 9 open reading frame 89 (C9orf89), mRNA.	83	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TTCTACCGAGCCCTGTATATCC	0.649000														36			23		0	0	6.4e-05	0	0
CPAMD8	27151	broad.mit.edu	37	19	17085952	17085952	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:17085952G>A	uc002nfb.3	-	16	2198	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	675						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGGCCACGGGAAGACAGAGG	0.567000														19			10		0	0	0.000673444	0	0
EXD1	161829	broad.mit.edu	37	15	41482309	41482309	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:41482309C>T	uc010ucv.2	-	10	1154	c.882G>A	c.(880-882)tgG>tgA	p.W294*	EXD1_uc001znj.3_Nonsense_Mutation_p.W34*|EXD1_uc001znk.3_Nonsense_Mutation_p.W236*	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	236					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GTCGGATGAACCATACTTCTG	0.433000														86			54		0	0	0.000781405	0	0
CD19	930	broad.mit.edu	37	16	28950019	28950019	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:28950019G>A	uc010byo.2	+	12	1574	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.M503I	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	503					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGAGGATATGAGAGGAATCC	0.607000														41			16		0	0	0.00121646	0	0
TLE6	79816	broad.mit.edu	37	19	2987153	2987153	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:2987153G>A	uc002lwt.2	+	6	567	c.458G>A	c.(457-459)tGg>tAg	p.W153*	TLE6_uc002lwu.2_Nonsense_Mutation_p.W30*	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	30					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAGCCTTGGTTTTGGCAC	0.602000														48			36		0	0	0.00222228	0	0
ABCA13	154664	broad.mit.edu	37	7	48450124	48450124	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:48450124G>A	uc003toq.2	+	39	12102	c.12078G>A	c.(12076-12078)acG>acA	p.T4026T	ABCA13_uc010kys.1_Silent_p.T1100T|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4026	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.E4026D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGGTCGTACGATCATCTTCA	0.607000														88			22		0	0	0.000720815	0	0
NAF1	92345	broad.mit.edu	37	4	164066932	164066932	+	Splice_Site	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:164066932A>G	uc003iqj.3	-	4	911	c.717_splice	c.e4+1	p.K239_splice	NAF1_uc010iqw.1_Splice_Site_p.K239_splice	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	239					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTTTACAAACCTTTCCTGC	0.274000														8			3		0	0	6.4e-05	0	0
ZNF185	7739	broad.mit.edu	37	X	152128332	152128332	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:152128332G>A	uc011myg.2	+	17	1640	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	ZNF185_uc011myi.2_Missense_Mutation_p.G470E|ZNF185_uc011myj.2_Missense_Mutation_p.G440E|ZNF185_uc011myh.2_Missense_Mutation_p.G502E|ZNF185_uc011myk.2_Missense_Mutation_p.G500E|ZNF185_uc010ntv.2_Missense_Mutation_p.G499E|ZNF185_uc004fgw.4_Missense_Mutation_p.G278E|ZNF185_uc004fgu.3_Missense_Mutation_p.G128E|ZNF185_uc004fgv.3_Missense_Mutation_p.G196E|ZNF185_uc004fgx.3_Missense_Mutation_p.G137E	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	499						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGCCAAGGAGACCCAGCT	0.592000														24			5		0	0	0.000602214	0	0
CCDC37	348807	broad.mit.edu	37	3	126138654	126138654	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:126138654G>A	uc010hsg.1	+	7	968	c.909G>A	c.(907-909)ggG>ggA	p.G303G	CCDC37_uc003eiu.1_Silent_p.G302G	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	302										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCACACCAGGGGACAAAGGTA	0.547000														36			4		0	0	0.000602214	0	0
OR2J2	26707	broad.mit.edu	37	6	29141462	29141462	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:29141462G>A	uc011dlm.2	+	0	152	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATTCTACTTGGATTTTCTAAT	0.358000														108			42		0	0	0.000680045	0	0
CR2	1380	broad.mit.edu	37	1	207643060	207643060	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:207643060C>T	uc001hfw.3	+	5	957	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	CR2_uc001hfv.3_Missense_Mutation_p.P280S|CR2_uc009xch.3_Missense_Mutation_p.P280S|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	280	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCCATCACCTCCCCCTATTCT	0.433000														71			15		0	0	0.000566183	0	0
TRAK2	66008	broad.mit.edu	37	2	202251159	202251159	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:202251159C>A	uc002uyb.4	-	13	2191	c.1745G>T	c.(1744-1746)gGa>gTa	p.G582V		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	582				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding	p.L581F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AAGGATGGTTCCCAAGTTTGG	0.443000														108			45		8.48111e-28	2.8465e-27	0.000781405	1	0
TECTA	7007	broad.mit.edu	37	11	121008698	121008698	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:121008698C>T	uc010rzo.2	+	9	3510	c.3510C>T	c.(3508-3510)atC>atT	p.I1170I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1170	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTACAGCATCGTGATCCACC	0.562000														23			10		0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9068414	9068414	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:9068414G>A	uc002mkp.3	-	2	19236	c.19032C>T	c.(19030-19032)tcC>tcT	p.S6344S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6346	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATTGATGTGGAAACTATTG	0.438000														38			14		0	0	0.00185496	0	0
GOLGA3	2802	broad.mit.edu	37	12	133357462	133357462	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:133357462G>A	uc001ukz.1	-	17	4063	c.3504C>T	c.(3502-3504)cgC>cgT	p.R1168R	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.R1168R	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1168					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTTCATCTGGCGATCCTCCT	0.537000														46			15		0	0	0.00244969	0	0
CSMD3	114788	broad.mit.edu	37	8	113529291	113529291	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:113529291G>A	uc003ynu.3	-	27	4887	c.4728C>T	c.(4726-4728)ttC>ttT	p.F1576F	CSMD3_uc003yns.3_Silent_p.F848F|CSMD3_uc003ynt.3_Silent_p.F1536F|CSMD3_uc011lhx.2_Silent_p.F1472F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1576	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGCTGCCAGAAGTACCGAT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				49			26		0	0	0.00209593	0	0
ISLR	3671	broad.mit.edu	37	15	74467238	74467238	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:74467238G>A	uc002axg.1	+	1	321	c.39G>A	c.(37-39)ctG>ctA	p.L13L	ISLR_uc002axh.1_Silent_p.L13L|ISLR_uc021sqf.1_Silent_p.L13L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	13					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CGCTTCTCCTGGGCCTGGCTC	0.632000														45			15		0	0	0.000566183	0	0
RECK	8434	broad.mit.edu	37	9	36087828	36087828	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:36087828C>T	uc003zyv.3	+	8	861	c.775C>T	c.(775-777)Cct>Tct	p.P259S	RECK_uc003zyw.3_Missense_Mutation_p.P131S|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	259	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCCTCAAGATCCTCTTTGGCA	0.483000														66			20		0	0	0.00152264	0	0
HMBOX1	79618	broad.mit.edu	37	8	28876343	28876343	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:28876343C>T	uc003xhd.4	+	5	1106	c.764C>T	c.(763-765)cCc>cTc	p.P255L	HMBOX1_uc010lvd.3_Missense_Mutation_p.P255L|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.P255L|HMBOX1_uc011lay.2_Missense_Mutation_p.P255L|HMBOX1_uc003xhg.3_Missense_Mutation_p.P243L|HMBOX1_uc003xhf.3_Missense_Mutation_p.P243L	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	255					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CAAACGCCTCCCCCAGTCTCT	0.488000														51			25		0	0	0.000720815	0	0
SNRPC	6631	broad.mit.edu	37	6	34741275	34741275	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:34741275C>T	uc003ojt.2	+	5	858	c.408C>T	c.(406-408)ccC>ccT	p.P136P	SNRPC_uc021yyv.1_Silent_p.P95P|SNRPC_uc021yyw.1_Silent_p.P157P	NM_003093	NP_003084	P09234	RU1C_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA.	136					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGCCTGGGCCCCCAATGATGA	0.552000														43			17		0	0	0.000566183	0	0
MINK1	50488	broad.mit.edu	37	17	4789256	4789256	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:4789256C>T	uc010vsl.2	+	7	934	c.690C>T	c.(688-690)gcC>gcT	p.A230A	MINK1_uc010vsk.2_Silent_p.A230A|MINK1_uc010vsm.2_Silent_p.A230A|MINK1_uc010vsn.2_Silent_p.A230A|MINK1_uc010vso.2_Silent_p.A175A|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	230	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CAGAGGGAGCCCCCCGTAAGT	0.567000														21			8		0	0	0.000442599	0	0
DNAH8	1769	broad.mit.edu	37	6	38854607	38854607	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:38854607G>A	uc021yzh.1	+	56	8409	c.8300G>A	c.(8299-8301)gGa>gAa	p.G2767E	DNAH8_uc003ooe.2_Missense_Mutation_p.G2550E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAATGGAAGGAATGTACAGC	0.398000														55			12		0	0	0.00185496	0	0
AMICA1	120425	broad.mit.edu	37	11	118076638	118076638	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:118076638C>T	uc001psk.2	-	4	667	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	AMICA1_uc001psg.2_5'Flank|AMICA1_uc001psh.2_Missense_Mutation_p.V126M|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.V155M|AMICA1_uc010rxw.1_Missense_Mutation_p.V126M|AMICA1_uc010rxx.1_Missense_Mutation_p.V165M|AMICA1_uc001psl.1_Missense_Mutation_p.V121M	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	165	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCTTGGTCACGTGTTTCACT	0.458000														98			35		0	0	0.00195071	0	0
CENPI	2491	broad.mit.edu	37	X	100375738	100375738	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:100375738C>T	uc004egx.3	+	6	922	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	CENPI_uc011mrg.2_Missense_Mutation_p.R218C|CENPI_uc004egy.3_Missense_Mutation_p.R218C	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	218					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CAAACCATTTCGTGTGAGAAA	0.388000														89			12		0	0	0.000422831	0	0
RGS21	431704	broad.mit.edu	37	1	192335163	192335163	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:192335163C>T	uc001gsh.3	+	4	542	c.368C>T	c.(367-369)tCt>tTt	p.S123F		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	123	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GCCAAGGATTCTTTCCCTCGA	0.378000														110			23		0	0	0.00047179	0	0
ECM1	1893	broad.mit.edu	37	1	150484121	150484121	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:150484121C>T	uc001euv.3	+	6	1177	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ECM1_uc010pcf.2_3'UTR|ECM1_uc010pce.2_3'UTR|ECM1_uc001eus.3_Silent_p.F299F|ECM1_uc001eut.3_Intron|ECM1_uc009wlu.3_Silent_p.F59F	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	299	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGCTGCCTTTCCCTCCTGGGG	0.597000														42			13		0	0	0.00185496	0	0
MX2	4600	broad.mit.edu	37	21	42778885	42778885	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr21:42778885C>T	uc002yzf.1	+	12	1969	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F	MX2_uc002yzg.1_Missense_Mutation_p.S345F|MX2_uc010gop.1_Missense_Mutation_p.S104F	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	622					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCGGTTTCCTCCTTTACTGAA	0.488000														32			16		0	0	0.00074312	0	0
ADAM32	203102	broad.mit.edu	37	8	39114851	39114851	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:39114851C>T	uc003xmt.4	+	18	2396	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	ADAM32_uc011lch.2_Silent_p.F618F|ADAM32_uc003xmu.4_Silent_p.F611F|ADAM32_uc003xmv.3_Silent_p.F141F	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	717					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGAGGAATTCCCAAGTAGCG	0.368000														92			40		0	0	0.000781405	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128723	126128723	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:126128723C>T	uc001uhe.1	+	5	1532	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TMEM132B_uc001uhf.1_Silent_p.F20F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	508						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTCCCAGTTCGAGGTCACTG	0.527000														42			26		0	0	0.00127121	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830677	43830677	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:43830677G>A	uc001cjb.3	-	3	368	c.240C>T	c.(238-240)ttC>ttT	p.F80F	ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Intron	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	80					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGACATCAGGAACTGGGAAG	0.577000														17			6		0	0	0.00116845	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567041	140567041	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:140567041A>T	uc003liw.1	+	0	149	c.149A>T	c.(148-150)aAg>aTg	p.K50M		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	50	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATCTGGCAAAGGATCTGGGA	0.502000														15			22		0	0	0.00058488	0	0
CCDC148	130940	broad.mit.edu	37	2	159077138	159077138	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:159077138T>A	uc002tzq.3	-	10	1653	c.1339A>T	c.(1339-1341)Atc>Ttc	p.I447F	CCDC148_uc002tzr.3_Missense_Mutation_p.I295F|CCDC148_uc010foh.3_Missense_Mutation_p.I160F|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	447										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTCAGCGATTAATTTCTTC	0.328000														23			8		0	0	0.000673444	0	0
NELL2	4753	broad.mit.edu	37	12	44913944	44913944	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:44913944C>T	uc010skz.1	-	19	2519	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	NELL2_uc001rof.3_Silent_p.E747E|NELL2_uc001rog.2_Silent_p.E748E|NELL2_uc001roh.2_Silent_p.E748E|NELL2_uc009zkd.2_Silent_p.E700E|NELL2_uc010sla.1_Silent_p.E771E	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	748	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGCACTCATTCTCTGGGAGAA	0.542000														9			10		0	0	0.000442599	0	0
PTPRB	5787	broad.mit.edu	37	12	71029686	71029686	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:71029686G>A	uc001swc.4	-	1	261	c.216C>T	c.(214-216)tcC>tcT	p.S72S	PTPRB_uc001swa.4_Silent_p.S72S|PTPRB_uc001swd.4_Silent_p.S71S|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Silent_p.S72S	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGAAGAGTTGGAGATGGCCA	0.562000														16			10		0	0	0.000978159	0	0
FAM135B	51059	broad.mit.edu	37	8	139164294	139164294	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:139164294G>A	uc003yuy.3	-	12	2595	c.2424C>T	c.(2422-2424)tcC>tcT	p.S808S	FAM135B_uc003yux.3_Silent_p.S709S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.S370S|FAM135B_uc003yvb.3_Silent_p.S370S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	808										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGATCCTGGGGAACCTTGGC	0.527000										HNSCC(54;0.14)				36			26		0	0	0.00106085	0	0
FGA	2243	broad.mit.edu	37	4	155506800	155506800	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:155506800G>A	uc003iod.1	-	4	1839	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	FGA_uc003ioe.1_Missense_Mutation_p.S594F|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	594					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAAATGTGGAGTCTCCTCT	0.453000														65			24		0	0	0.00047179	0	0
MED13L	23389	broad.mit.edu	37	12	116434479	116434479	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:116434479G>T	uc001tvw.3	-	15	2853	c.2798C>A	c.(2797-2799)tCa>tAa	p.S933*		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	933					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTGCACATATGAAAAGTCCTG	0.418000														40			10		0.000673444	0.00221827	0.000673444	1	0
OR13H1	347468	broad.mit.edu	37	X	130678868	130678868	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:130678868C>T	uc011muw.2	+	0	821	c.821C>T	c.(820-822)tCa>tTa	p.S274L	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AAGTTTATCTCAGTGTTTTAT	0.433000														96			40		0	0	0.00195071	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19568112	19568112	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:19568112G>A	uc004czm.3	-	13	1790	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S	SH3KBP1_uc011mje.2_Missense_Mutation_p.P231S|SH3KBP1_uc011mjf.2_Missense_Mutation_p.P254S|SH3KBP1_uc004czl.3_Missense_Mutation_p.P455S|SH3KBP1_uc010nfm.3_5'UTR	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	492					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GACTGGGACGGAGGCCGCCTC	0.463000														165			26		0	0	0.00178596	0	0
LAMC1	3915	broad.mit.edu	37	1	183083683	183083683	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:183083683C>T	uc001gpy.4	+	4	1296	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	347	Laminin EGF-like 2.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCAATGGTCGATCCCAGGA	0.468000														282			35		0	0	0.00222228	0	0
IP6K2	51447	broad.mit.edu	37	3	48732679	48732679	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:48732679C>T	uc003cuq.3	-	1	507	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	IP6K2_uc003cup.3_Missense_Mutation_p.G16S|IP6K2_uc011bbs.2_Non-coding_Transcript|IP6K2_uc003cut.3_Non-coding_Transcript|IP6K2_uc003cus.3_Missense_Mutation_p.G16S|IP6K2_uc003cur.3_Missense_Mutation_p.G16S|IP6K2_uc011bbv.2_Missense_Mutation_p.G74S|IP6K2_uc011bbu.2_Missense_Mutation_p.G70S|IP6K2_uc011bbr.2_Missense_Mutation_p.G16S|IP6K2_uc011bbt.2_Missense_Mutation_p.G71S|IP6K2_uc011bbq.2_Missense_Mutation_p.G16S	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	16					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AGAAGGACGCCTTTGGCGCGG	0.662000														22			13		0	0	0.00185496	0	0
KCNK17	89822	broad.mit.edu	37	6	39272353	39272353	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:39272353T>C	uc003ooo.3	-	2	572	c.431A>G	c.(430-432)aAc>aGc	p.N144S	KCNK17_uc003oop.3_Missense_Mutation_p.N144S	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	144						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CACCACGAGGTTGAGTGGGAT	0.632000														92			41		0	0	0.000680045	0	0
NLRP14	338323	broad.mit.edu	37	11	7063998	7063998	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:7063998C>T	uc001mfb.1	+	3	1064	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	247	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGAAGAAATCATGTACCAGC	0.433000														53			19		0	0	0.00121646	0	0
LILRA5	353514	broad.mit.edu	37	19	54822811	54822811	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:54822811G>A	uc002qfe.3	-	4	705	c.585C>T	c.(583-585)ttC>ttT	p.F195F	LILRA5_uc002qff.3_Silent_p.F183F|LILRA5_uc010yev.2_Silent_p.F195F|LILRA5_uc010yew.2_Silent_p.F183F|LILRA5_uc002qfg.1_Silent_p.F195F|LILRA5_uc002qfh.1_Silent_p.F183F	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	195	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGGCCTGGAACTGCCCAC	0.592000														33			8		0	0	0.000274275	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309673	153309673	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:153309673G>A	uc001fbo.3	-	7	992	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PGLYRP4_uc001fbp.3_Silent_p.F305F	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	309					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCCATGAAGGTAATGC	0.522000														71			16		0	0	0.000958276	0	0
KCNT2	343450	broad.mit.edu	37	1	196397273	196397273	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:196397273C>T	uc001gtd.1	-	9	1006	c.946G>A	c.(946-948)Gat>Aat	p.D316N	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.D316N|KCNT2_uc001gtf.1_Missense_Mutation_p.D316N|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.D316N|KCNT2_uc009wyv.1_Missense_Mutation_p.D291N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	316						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAAAAAATCCATAAGTAAA	0.378000														45			13		0	0	0.00185496	0	0
MORC1	27136	broad.mit.edu	37	3	108724118	108724118	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:108724118C>T	uc003dxl.3	-	18	1899	c.1812G>A	c.(1810-1812)ttG>ttA	p.L604L	MORC1_uc011bhn.2_Silent_p.L583L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	604					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTCATGCTTCAAGTCATCGC	0.343000														35			16		0	0	0.000566183	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931590	155931590	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:155931590C>T	uc001fmu.2	-	14	1717	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	ARHGEF2_uc001fmr.2_Missense_Mutation_p.E416K|ARHGEF2_uc001fms.2_Missense_Mutation_p.E443K|ARHGEF2_uc001fmt.2_Missense_Mutation_p.E444K|ARHGEF2_uc010pgt.1_Missense_Mutation_p.E417K|ARHGEF2_uc010pgu.1_Missense_Mutation_p.E489K	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	444	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGTAGATCTCCTGCAGACGG	0.607000														93			24		0	0	0.00047179	0	0
ZNF414	84330	broad.mit.edu	37	19	8577592	8577592	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:8577592T>A	uc002mke.4	-	2	438	c.320A>T	c.(319-321)aAg>aTg	p.K107M	ZNF414_uc010dwf.3_Missense_Mutation_p.K96M|ZNF414_uc002mkf.3_Missense_Mutation_p.K107M	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						AGGGATTTGCTTCCCTGCAGG	0.602000														0			4		0	0	0.000602214	0	0
MARCH11	441061	broad.mit.edu	37	5	16067614	16067614	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:16067614G>A	uc003jfo.2	-	3	1388	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	MARCH11_uc010itw.1_Missense_Mutation_p.S148L	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	392						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACCTCCCCCGAGCTGTTATC	0.463000														78			67		0	0	0.000781405	0	0
TMEM56	148534	broad.mit.edu	37	1	95657412	95657412	+	Silent	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:95657412A>G	uc021oqe.1	+	6	1156	c.780A>G	c.(778-780)ggA>ggG	p.G260G	TMEM56_uc001drd.4_Intron|AK090700_uc001dre.1_Intron|TMEM56_uc001drb.3_Silent_p.G260G	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	260						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTCAGAATGGAAAACTTGATT	0.363000														21			11		0	0	0.000673444	0	0
MET	4233	broad.mit.edu	37	7	116409818	116409818	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:116409818G>A	uc003vij.3	+	11	2890	c.2703G>A	c.(2701-2703)ctG>ctA	p.L901L	MET_uc022akk.1_Silent_p.L901L|MET_uc010lkh.3_Silent_p.L919L|MET_uc011knj.2_Silent_p.L471L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	901					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGACCTGCTGAAATTGAACA	0.383000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					56			34		0	0	0.000953801	0	0
ELL2	22936	broad.mit.edu	37	5	95226829	95226829	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:95226829G>A	uc003klr.4	-	9	2089	c.1739C>T	c.(1738-1740)tCt>tTt	p.S580F		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	580					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGAGCCTGGAGAAAGGCGCTT	0.428000														66			39		0	0	0.0025221	0	0
VGLL3	389136	broad.mit.edu	37	3	87018250	87018250	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:87018250G>A	uc003dqn.3	-	2	791	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAACTATTCCGCTGGCTTGAG	0.478000														97			80		0	0	0.000781405	0	0
CTSL1	1514	broad.mit.edu	37	9	90345972	90345972	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:90345972C>T	uc004api.3	+	7	1157	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	CTSL1_uc004aph.3_Missense_Mutation_p.R318W|CTSL1_uc010mqh.3_Missense_Mutation_p.R136W|CTSL1_uc004apl.3_Missense_Mutation_p.R318W|CTSL1_uc004apk.3_Missense_Mutation_p.R318W	NM_145918	NP_666023	P07711	CATL1_HUMAN	Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA.	318					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)	19					Glucagon recombinant(DB00040)	GGCCAAAGACCGGAGAAACCA	0.522000														15			9		0	0	0.000673444	0	0
ASTN1	460	broad.mit.edu	37	1	176852083	176852083	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:176852083G>A	uc001glc.3	-	19	3486	c.3274C>T	c.(3274-3276)Cct>Tct	p.P1092S	ASTN1_uc001glb.1_Missense_Mutation_p.P1092S|ASTN1_uc001gld.1_Missense_Mutation_p.P1092S	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1100	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATTGCACAAGGAGACTTTGCT	0.493000														99			22		0	0	0.00229938	0	0
IKZF2	22807	broad.mit.edu	37	2	213872225	213872225	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:213872225G>A	uc002vem.3	-	7	1609	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	IKZF2_uc010fuu.3_Silent_p.F335F|IKZF2_uc002vej.3_Silent_p.F427F|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.F406F|IKZF2_uc002vel.3_Silent_p.F401F|IKZF2_uc010fuw.3_Silent_p.F254F|IKZF2_uc010fux.3_Silent_p.F254F|IKZF2_uc010fuy.3_Silent_p.F408F|IKZF2_uc002ven.3_Silent_p.F454F|IKZF2_uc002vei.3_Silent_p.F258F	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATGGTCTAGGAAAAGGACTC	0.512000														71			37		0	0	0.00148497	0	0
EPPK1	83481	broad.mit.edu	37	8	144940463	144940463	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:144940463G>A	uc003zaa.1	-	0	6972	c.6959C>T	c.(6958-6960)tCc>tTc	p.S2320F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2320						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAAGAGGGAGATCTGCTG	0.706000														245			16		0	0	0.000566183	0	0
CFTR	1080	broad.mit.edu	37	7	117254679	117254679	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:117254679G>A	uc003vjd.3	+	20	3512	c.3380G>A	c.(3379-3381)gGa>gAa	p.G1127E	CFTR_uc011knq.2_Missense_Mutation_p.G533E	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1127	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.G1127A(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAAGGAGAAGGAAGAGTTGGT	0.398000									Cystic Fibrosis					68			14		0	0	0.000308642	0	0
METTL13	51603	broad.mit.edu	37	1	171761229	171761229	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:171761229C>T	uc001ghz.3	+	5	1894	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	METTL13_uc001gia.3_Missense_Mutation_p.P430L|METTL13_uc001gib.3_Missense_Mutation_p.P360L|METTL13_uc010pml.2_Missense_Mutation_p.P515L|METTL13_uc001gic.1_5'Flank	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	516							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GATCATTTTCCAAAGTCCTGC	0.522000														123			24		0	0	0.000586117	0	0
TBX19	9095	broad.mit.edu	37	1	168260534	168260534	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:168260534C>T	uc001gfl.3	+	1	391	c.340C>T	c.(340-342)Cca>Tca	p.P114S	TBX19_uc001gfj.4_Missense_Mutation_p.P45S	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	114					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CGCTGGCAAGCCAGAGGTCTC	0.587000														103			22		0	0	0.00106085	0	0
ARAP2	116984	broad.mit.edu	37	4	36212304	36212304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:36212304G>A	uc003gsq.2	-	5	1533	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	ARAP2_uc003gsr.1_Nonsense_Mutation_p.R399*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	399					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.R399*(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGTCCTCTCGAGGTATCCAA	0.338000														123			44		0	0	0.000781405	0	0
MAPK6	5597	broad.mit.edu	37	15	52356250	52356250	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:52356250G>T	uc002abp.3	+	5	2013	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	407					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGAGATCGGGAAAAGTATCT	0.403000														40			12		9.05144e-12	3.00687e-11	0.00185496	1	0
OR5B3	441608	broad.mit.edu	37	11	58170745	58170745	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:58170745C>T	uc010rkf.2	-	0	138	c.138G>A	c.(136-138)ttG>ttA	p.L46L		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46*(2)|p.L46W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCAGAATATCAATACAATAA	0.418000														29			23		0	0	0.000720815	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135099033	135099033	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:135099033G>A	uc010qvc.1	-	12	2263	c.1906C>T	c.(1906-1908)Ctg>Ttg	p.L636L	TUBGCP2_uc001lmf.1_Silent_p.L201L|TUBGCP2_uc001lmg.1_Silent_p.L608L|TUBGCP2_uc010qvd.1_Silent_p.L478L|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	608					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTCAGCGCCAGCTCCGTGGGG	0.637000														19			6		0	0	0.00116845	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721224	50721224	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr22:50721224G>A	uc003bkv.4	-	17	2996	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	968	IPT/TIG 2.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.S967F(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCACGGGGGACCCCCCGTA	0.662000														25			8		0	0	0.000274275	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020146	55020146	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:55020146G>A	uc002lgn.3	+	0	426	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	23					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TCGCCCTGCTGATTTTATCGC	0.602000														42			14		0	0	0.00244969	0	0
SNAPC1	6617	broad.mit.edu	37	14	62245615	62245615	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:62245615C>T	uc001xft.3	+	6	916	c.812C>T	c.(811-813)tCa>tTa	p.S271L		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	271					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AAGGCCTTTTCAGTTGTCATA	0.279000														42			18		0	0	0.00188189	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118365033	118365033	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:118365033G>A	uc001lco.1	+	11	1326	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	PNLIPRP1_uc001lcp.2_Silent_p.K436K	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	436	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GTGCCACCAAGATCACTGTGC	0.413000														22			10		0	0	0.000978159	0	0
PSG8	440533	broad.mit.edu	37	19	43262160	43262160	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:43262160G>A	uc002ouo.2	-	2	801	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.L235F|PSG8_uc010ein.3_Missense_Mutation_p.L113F|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	235						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCACGGAGGAGATTCAGGGTG	0.527000														183			38		0	0	0.00148497	0	0
HEMK1	51409	broad.mit.edu	37	3	50614591	50614591	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:50614591C>T	uc003dau.3	+	4	819	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	HEMK1_uc003dav.3_Missense_Mutation_p.L175F	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	175					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGCCATCTCCCTCAGCCTGCT	0.627000														50			10		0	0	0.000673444	0	0
COL11A2	1302	broad.mit.edu	37	6	33132137	33132137	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:33132137G>A	uc003ocx.1	-	64	5205	c.4977C>T	c.(4975-4977)gcC>gcT	p.A1659A	COL11A2_uc010jul.1_Silent_p.A229A|COL11A2_uc003ocy.1_Silent_p.A1573A|COL11A2_uc003ocz.1_Silent_p.A1552A	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1659	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACCGTCACGGGCTGCTCCAG	0.627000														17			4		0	0	0.000602214	0	0
AADACL3	126767	broad.mit.edu	37	1	12785271	12785271	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:12785271G>A	uc009vnn.1	+	3	594	c.361G>A	c.(361-363)Gat>Aat	p.D121N	AADACL3_uc001aug.1_Missense_Mutation_p.D51N	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	121							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGTCCCTGGATGCATATGG	0.512000														81			35		0	0	0.000814825	0	0
DOCK11	139818	broad.mit.edu	37	X	117739215	117739215	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:117739215G>A	uc004eqp.2	+	23	2640	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	DOCK11_uc004eqq.2_Missense_Mutation_p.M625I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	859	DHR-1.				blood coagulation	cytosol	GTP binding	p.M859V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGCATGCCATGGAGATCCAAG	0.328000														130			17		0	0	0.00074312	0	0
ZNF192	7745	broad.mit.edu	37	6	28119712	28119712	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:28119712C>T	uc003nkn.1	+	3	833	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	ZNF192_uc010jqx.1_Nonsense_Mutation_p.Q217*|ZNF192_uc010jqy.1_Nonsense_Mutation_p.Q30*|ZNF192_uc011dkz.1_Nonsense_Mutation_p.Q30*	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	217					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q217R(1)|p.Q217H(1)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCAGGGTTCCAGGTGAGTTG	0.493000														44			25		0	0	0.00127121	0	0
DSP	1832	broad.mit.edu	37	6	7584933	7584933	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:7584933C>A	uc003mxp.1	+	23	7717	c.7438C>A	c.(7438-7440)Cag>Aag	p.Q2480K	DSP_uc003mxq.1_Missense_Mutation_p.Q1881K|DSP_uc021yle.1_Missense_Mutation_p.Q2037K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2480	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATGTCTGTTCAGGAGGCCTA	0.423000														83			49		3.89483e-19	1.3005e-18	0.000781405	1	0
OR2M3	127062	broad.mit.edu	37	1	248366917	248366917	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:248366917C>T	uc010pzg.2	+	0	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTTCCCCTCCCTACTAATC	0.413000														119			125		0	0	0.000781405	0	0
KIF5C	3800	broad.mit.edu	37	2	149806890	149806890	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:149806890G>A	uc010zbu.2	+	9	1277	c.882G>A	c.(880-882)ggG>ggA	p.G294G	KIF5C_uc002tws.1_Non-coding_Transcript	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	294	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTTTGGGTGGGAACTGCAGAA	0.473000														30			17		0	0	0.00074312	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443926	61443926	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:61443926C>T	uc010qig.1	-	1	573	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	42					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAAAGGCATCCAGCCATTCT	0.478000														60			31		0	0	0.000814825	0	0
TMEM61	199964	broad.mit.edu	37	1	55452004	55452004	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:55452004G>A	uc001cyd.3	+	1	524	c.250G>A	c.(250-252)Ggc>Agc	p.G84S		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	84						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GCTGCTCATTGGCCTGCTGTG	0.652000														105			41		0	0	0.00170553	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129132	68129132	+	Silent	SNP	C	A	A	rs142625269		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:68129132C>A	uc002jiq.3	+	2	1140	c.1000C>A	c.(1000-1002)Cga>Aga	p.R334R	KCNJ16_uc002jin.3_Silent_p.R302R|KCNJ16_uc002jio.3_Silent_p.R302R|KCNJ16_uc002jip.3_Silent_p.R302R|KCNJ16_uc021uch.1_Silent_p.R302R	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	302					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTATGTTCCCCGAGAAATTCT	0.393000														96			5		0.00198382	0.00647981	0.00198382	1	0
OR4N5	390437	broad.mit.edu	37	14	20612775	20612775	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:20612775T>G	uc010tla.2	+	0	881	c.881T>G	c.(880-882)gTg>gGg	p.V294G		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AACCAGGAGGTGAAAGCTTCC	0.403000														36			22		0	0	0.000586117	0	0
ASRGL1	80150	broad.mit.edu	37	11	62124474	62124474	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:62124474C>T	uc001nte.4	+	3	633	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	ASRGL1_uc001ntf.4_Silent_p.L117L|ASRGL1_uc001ntg.4_5'UTR|ASRGL1_uc001nth.1_Non-coding_Transcript	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	117					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TCATTGCTTTCTGACTGACCA	0.398000														38			19		0	0	0.00278032	0	0
ANK2	287	broad.mit.edu	37	4	114275410	114275410	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:114275410C>T	uc003ibe.4	+	37	5736	c.5636C>T	c.(5635-5637)tCa>tTa	p.S1879L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S1894L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1846	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGAAACACTCACCTGTATCA	0.443000														102			48		0	0	0.000781405	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184589218	184589218	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:184589218A>G	uc003ivx.3	+	4	710	c.508A>G	c.(508-510)Aag>Gag	p.K170E	TRAPPC11_uc003ivw.3_Missense_Mutation_p.K170E|TRAPPC11_uc010isc.3_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	170																	ACTCTCAGGAAAGTCTTTGTT	0.358000														116			55		0	0	0.000781405	0	0
FKBP15	23307	broad.mit.edu	37	9	115930838	115930838	+	Splice_Site	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:115930838T>C	uc004bgs.2	-	27	3639	c.3486_splice	c.e27-1	p.S1162_splice	FKBP15_uc004bgr.2_Splice_Site_p.S599_splice|FKBP15_uc011lxc.1_Splice_Site_p.S743_splice	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1162					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCAGAGAGACTGAAGGAAAAT	0.498000														36			20		0	0	0.00229938	0	0
OR2T2	401992	broad.mit.edu	37	1	248616173	248616173	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:248616173C>T	uc001iek.1	+	0	75	c.75C>T	c.(73-75)ccC>ccT	p.P25P		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F24L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCCTTCCCCGGGCTTCTCT	0.537000														304			44		0	0	0.000781405	0	0
EFCAB3	146779	broad.mit.edu	37	17	60469297	60469297	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:60469297A>C	uc010wpc.2	+	5	493	c.422A>C	c.(421-423)tAt>tCt	p.Y141S	EFCAB3_uc002izu.2_Missense_Mutation_p.Y89S	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	89							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CATGATGTCTATAATGAATTG	0.348000														84			44		0	0	0.000781405	0	0
UBR1	197131	broad.mit.edu	37	15	43363063	43363063	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:43363063C>T	uc001zqq.3	-	4	655	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	UBR1_uc010udk.1_Missense_Mutation_p.V197M	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	197					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TATTTTATCACTGAAGGAAAT	0.378000														83			36		0	0	0.00058488	0	0
C7orf60	154743	broad.mit.edu	37	7	112462292	112462292	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:112462292A>G	uc011kms.1	-	5	930	c.803T>C	c.(802-804)gTt>gCt	p.V268A	C7orf60_uc003vgo.1_Missense_Mutation_p.V242A	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	242										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GAGAGAGAAAACAACCACATG	0.408000														18			12		0	0	0.000978159	0	0
IGF1R	3480	broad.mit.edu	37	15	99459195	99459195	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:99459195C>T	uc002bul.3	+	8	1881	c.1831C>T	c.(1831-1833)Cct>Tct	p.P611S	IGF1R_uc010urq.2_Missense_Mutation_p.P611S|IGF1R_uc010bon.3_Missense_Mutation_p.P611S|IGF1R_uc010urr.1_Missense_Mutation_p.P61S	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	611	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTCTCCAGTTCCTTCCATTCC	0.463000														134			52		0	0	0.000781405	0	0
CCDC140	151278	broad.mit.edu	37	2	223169005	223169005	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:223169005C>T	uc021vxg.1	+	0	384	c.384C>T	c.(382-384)ctC>ctT	p.L128L	CCDC140_uc002vnb.1_Silent_p.L128L	NM_153038	NP_694583	Q96MF4	CC140_HUMAN	Homo sapiens coiled-coil domain containing 140 (CCDC140), mRNA.	128										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACGTACTCTCCCGACCCCTC	0.532000														28			11		0	0	0.00244969	0	0
SORL1	6653	broad.mit.edu	37	11	121424794	121424794	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:121424794C>T	uc001pxx.3	+	16	2544	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	805					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTATTGGTCCGACCTGGCCT	0.587000														17			16		0	0	0.000566183	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709568	128709568	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:128709568G>A	uc001qeo.1	-	1	679	c.628C>T	c.(628-630)Cta>Tta	p.L210L	KCNJ1_uc001qep.1_Silent_p.L191L|KCNJ1_uc001qeq.1_Silent_p.L191L|KCNJ1_uc001qer.1_Silent_p.L191L|KCNJ1_uc001qes.1_Silent_p.L191L|KCNJ1_uc021qsb.1_Silent_p.L191L	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	210					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	p.L209I(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ACTCGGATTAGGAGGCAAAGC	0.488000														96			25		0	0	0.00278032	0	0
TREML2	79865	broad.mit.edu	37	6	41162268	41162268	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:41162268G>A	uc010jxm.1	-	2	859	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	227					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTGGAGATGGATTCTGGGCC	0.627000														17			9		0	0	0.000442599	0	0
ITPR1	3708	broad.mit.edu	37	3	4847917	4847918	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:4847917_4847918GG>AA	uc003bqc.3	+	53	7543_7544	c.7193_7194GG>AA	c.(7192-7194)ggg>gAA	p.G2398E	ITPR1_uc021wsi.1_Missense_Mutation_p.G2365E|ITPR1_uc021wsj.1_Missense_Mutation_p.G2350E|ITPR1_uc011asu.2_Missense_Mutation_p.G376E|ITPR1_uc010hcc.2_Missense_Mutation_p.G133E|ITPR1_uc011asv.2_Missense_Mutation_p.G89E	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2413					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGTGCCATGGGGCTCTTTGTCC	0.465000														73			15		0	0	6.4e-05	0	0
CFP	5199	broad.mit.edu	37	X	47487668	47487668	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:47487668C>T	uc004dih.3	-	3	478	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	CFP_uc004dig.4_Missense_Mutation_p.R79Q|CFP_uc004dii.1_Missense_Mutation_p.R15Q|CFP_uc010nhu.2_Missense_Mutation_p.R79Q	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	79	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CAGGGACCATCGTGGGGACCT	0.612000														5			5		0	0	0.00116845	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99032539	99032539	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:99032539G>A	uc011kiw.2	-	2	534	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ATP5J2-PTCD1_uc003uqh.3_Silent_p.F109F	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	158																	GCAGGTTATGGAACTGGGCTG	0.557000														112			97		0	0	0.000781405	0	0
ZFHX3	463	broad.mit.edu	37	16	72993437	72993437	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:72993437G>A	uc002fck.3	-	1	1281	c.608C>T	c.(607-609)tCc>tTc	p.S203F	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	203					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTCCCGAAGGATGAGGCTAT	0.612000														97			31		0	0	0.00178596	0	0
ATP2A3	489	broad.mit.edu	37	17	3854588	3854588	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:3854588G>A	uc002fwy.2	-	4	593	c.420C>T	c.(418-420)atC>atT	p.I140I	ATP2A3_uc002fwz.2_Silent_p.I140I|ATP2A3_uc002fxa.2_Silent_p.I140I|ATP2A3_uc002fxb.2_Silent_p.I140I|ATP2A3_uc002fxc.2_Silent_p.I140I|ATP2A3_uc002fxd.2_Silent_p.I140I|ATP2A3_uc002fwx.2_Silent_p.I140I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	140					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCCGGGCACGGATCCTCTGCA	0.517000														24			15		0	0	0.00074312	0	0
POTEE	445582	broad.mit.edu	37	2	131976431	131976431	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:131976431C>T	uc002tsn.2	+	0	508	c.456C>T	c.(454-456)gtC>gtT	p.V152V	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	152							ATP binding										GGGGTAAAGTCCCCAGAAAGG	0.572000														89			22		0	0	0.00178596	0	0
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:49928133G>A	uc011dwp.2	-	1	82	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353000														30			15		0	0	0.000422831	0	0
C15orf33	196951	broad.mit.edu	37	15	49833925	49833925	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:49833925C>T	uc001zxl.2	-	9	1120	c.826G>A	c.(826-828)Gat>Aat	p.D276N	C15orf33_uc001zxm.3_Missense_Mutation_p.D242N	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	276										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TTAAATTCATCATTAAAGAGG	0.284000														131			30		0	0	0.00058488	0	0
CCDC19	25790	broad.mit.edu	37	1	159846476	159846476	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:159846476C>T	uc001fui.3	-	9	1240	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.E323K|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.G407E	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	408						mitochondrion|soluble fraction		p.E408delE(2)|p.K407R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CGCGCATTTTCCTTTTCCTTT	0.562000														45			21		0	0	0.00121646	0	0
BMPER	168667	broad.mit.edu	37	7	34094894	34094894	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:34094894A>C	uc011kap.2	+	9	1280	c.906A>C	c.(904-906)aaA>aaC	p.K302N		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	302	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGTATGCAAATTTGGCAACA	0.493000														151			29		0	0	0.00209593	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089128	220089128	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:220089128C>T	uc001hlw.3	-	3	1332	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.G129E|SLC30A10_uc001hlx.3_Missense_Mutation_p.G149E	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	374					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ATTGTGGATTCCCGCATGGTG	0.468000														81			71		0	0	0.000781405	0	0
TJP2	9414	broad.mit.edu	37	9	71849418	71849418	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:71849418C>T	uc004ahe.3	+	11	2053	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	TJP2_uc011lrs.2_Missense_Mutation_p.P556S|TJP2_uc011lrt.1_Missense_Mutation_p.P556S|TJP2_uc004ahd.3_Missense_Mutation_p.P579S|TJP2_uc004ahf.3_Missense_Mutation_p.P579S|TJP2_uc011lru.2_Missense_Mutation_p.P583S|TJP2_uc011lrv.2_Missense_Mutation_p.P610S	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	579	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTTAGAAATCCCTAAAGGTGA	0.443000														35			26		0	0	0.00178596	0	0
NMUR1	10316	broad.mit.edu	37	2	232390033	232390033	+	Silent	SNP	G	A	A	rs149953749		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:232390033G>A	uc002vry.4	-	2	1112	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	334					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCACGTGCTGGAAGGCCAGGT	0.632000														46			24		0	0	0.000586117	0	0
MLL3	58508	broad.mit.edu	37	7	151960106	151960106	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:151960106A>G	uc003wla.3	-	8	1513	c.1294T>C	c.(1294-1296)Tgc>Cgc	p.C432R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	432					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTTACTTTGCATTTCCAGCCA	0.338000			N		medulloblastoma									49			43		0	0	0.00170553	0	0
RPRD2	23248	broad.mit.edu	37	1	150430042	150430042	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:150430042C>T	uc009wlr.3	+	7	1350	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	RPRD2_uc010pcc.1_Silent_p.I357I|RPRD2_uc001eup.4_Silent_p.I357I	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	383							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGTCAAAAATCATTGGTATGT	0.393000														187			55		0	0	0.000781405	0	0
DENND2A	27147	broad.mit.edu	37	7	140301538	140301538	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:140301538C>T	uc010lnk.3	-	2	1180	c.660G>A	c.(658-660)tcG>tcA	p.S220S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.S220S|DENND2A_uc003vvw.3_Silent_p.S220S|DENND2A_uc003vvx.3_Silent_p.S220S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	220										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTCCAGGTCCGAGGGGTGGA	0.637000														78			69		0	0	0.000781405	0	0
XIST	7503	broad.mit.edu	37	X	73072212	73072212	+	RNA	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:73072212G>A	uc004ebm.1	-	0		c.377C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CCGCAGCCCCGATGGGCAAAA	0.403000														13			6		0	0	0.00116845	0	0
COL25A1	84570	broad.mit.edu	37	4	109895523	109895523	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:109895523C>T	uc021xqo.1	-	7	548	c.492_splice	c.e7+1	p.R164_splice	COL25A1_uc003hze.1_Splice_Site_p.R164_splice|COL25A1_uc021xqp.1_Splice_Site_p.R164_splice|COL25A1_uc003hzg.3_Splice_Site_p.R164_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	164	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CACAACTTACCCTAGGTCCCT	0.378000														42			24		0	0	0.00047179	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830105	7830105	+	Silent	SNP	C	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:7830105C>A	uc010dvt.3	+	2	283	c.165C>A	c.(163-165)ctC>ctA	p.L55L	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Silent_p.L55L|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Silent_p.L54L|CLEC4M_uc010xjx.2_Silent_p.L27L|CLEC4M_uc002mhz.3_Silent_p.L55L|CLEC4M_uc002mic.3_Silent_p.L27L|CLEC4M_uc002mia.3_Intron	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	55					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.L55F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGCTGCAACTCCTCTCCTTCA	0.637000														58			23		3.65163e-15	1.21513e-14	0.00106085	1	0
BAZ2B	29994	broad.mit.edu	37	2	160206398	160206398	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:160206398G>A	uc002uao.3	-	27	5089	c.4684C>T	c.(4684-4686)Ctt>Ttt	p.L1562F	BAZ2B_uc002uap.3_Missense_Mutation_p.L1526F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L1562I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CGTGGCAAAAGACTAAACCAT	0.448000														87			19		0	0	0.000958276	0	0
APOB	338	broad.mit.edu	37	2	21225135	21225135	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:21225135C>T	uc002red.3	-	28	13287	c.13159G>A	c.(13159-13161)Gaa>Aaa	p.E4387K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4387					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAAATATTCTTCACGAAGG	0.358000														507			206		0	0	0.000781405	0	0
EPS15L1	58513	broad.mit.edu	37	19	16488050	16488050	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:16488050G>A	uc002ndx.3	-	21	2269	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S	EPS15L1_uc002ndy.3_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc002ndz.1_Missense_Mutation_p.P755S|EPS15L1_uc010xpf.1_Missense_Mutation_p.P658S|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	755	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GAGGTGAAAGGGCCAGAAGGT	0.512000											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			19		0	0	0.00121646	0	0
SRRM1	10250	broad.mit.edu	37	1	24996657	24996657	+	Silent	SNP	C	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:24996657C>A	uc001bjm.3	+	14	2475	c.2251C>A	c.(2251-2253)Cga>Aga	p.R751R	SRRM1_uc010oel.2_Silent_p.R763R|SRRM1_uc009vri.1_Silent_p.R680R	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	751	Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTCATCCTCCCGATCTGTCTC	0.532000														142			6		0.00198382	0.00647981	0.00198382	1	0
ZZEF1	23140	broad.mit.edu	37	17	3919720	3919720	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:3919720A>C	uc002fxe.3	-	48	8106	c.8042T>G	c.(8041-8043)cTg>cGg	p.L2681R	ZZEF1_uc002fxg.1_Missense_Mutation_p.L2R	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2681							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATGGTCCCCAGCATGTCCTC	0.567000														42			9		0	0	0.000442599	0	0
NLRP3	114548	broad.mit.edu	37	1	247587607	247587607	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:247587607C>T	uc001icr.3	+	4	1000	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	NLRP3_uc001ics.3_Missense_Mutation_p.H288Y|NLRP3_uc001icu.3_Missense_Mutation_p.H288Y|NLRP3_uc001icw.3_Missense_Mutation_p.H288Y|NLRP3_uc001icv.3_Missense_Mutation_p.H288Y|NLRP3_uc010pyw.2_Missense_Mutation_p.H286Y|NLRP3_uc001ict.1_Missense_Mutation_p.H286Y	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	288	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCACCCATCCACAAGATCGT	0.552000														53			33		0	0	0.00058488	0	0
CCDC71	64925	broad.mit.edu	37	3	49200301	49200301	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:49200301G>A	uc003cwg.4	-	1	1479	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	CCDC71_uc021wxs.1_Silent_p.I447I	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	447										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCACGCGGAGGATCCGCTGAG	0.557000														17			6		0	0	0.00198382	0	0
FAT3	120114	broad.mit.edu	37	11	92531999	92531999	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:92531999C>T	uc001pdj.4	+	8	5837	c.5820C>T	c.(5818-5820)acC>acT	p.T1940T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1940	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGTACTTACCATAAAAAACA	0.423000										TCGA Ovarian(4;0.039)				271			145		0	0	0.000781405	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973464	46973464	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:46973464C>T	uc002peq.4	-	1	1135	c.829G>A	c.(829-831)Ggt>Agt	p.G277S	PNMAL1_uc002per.4_Missense_Mutation_p.G277S	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	277										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCAGCATCACCCACCTCAGGA	0.507000														105			27		0	0	0.000720815	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332616	130332616	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:130332616G>A	uc010scd.2	+	3	1483	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	495	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAGCTGTGGCGAGGGCAAGCT	0.642000														63			24		0	0	0.000878237	0	0
IL1F10	84639	broad.mit.edu	37	2	113832364	113832364	+	Silent	SNP	C	T	T	rs34320972	byFrequency	TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:113832364C>T	uc002tiu.3	+	3	258	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_uc002tiv.3_Silent_p.I61I|IL1F10_uc002tiw.3_Silent_p.I53I	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	61						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I61I(4)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582000														46			25		0	0	0.000878237	0	0
DENND3	22898	broad.mit.edu	37	8	142204174	142204174	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:142204174G>A	uc003yvy.3	+	22	3717	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	DENND3_uc010mep.3_Missense_Mutation_p.G1108R|DENND3_uc003ywa.1_3'UTR|DENND3_uc003ywb.3_Missense_Mutation_p.G197R	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1147										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AACACCCAAGGGGAAAATCTA	0.627000														62			21		0	0	0.00047179	0	0
HOXB2	3212	broad.mit.edu	37	17	46621972	46621972	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:46621972T>C	uc002inm.3	-	0	422	c.302A>G	c.(301-303)aAg>aGg	p.K101R		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	101					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GGCGGATTTCTTCTCTTTCAT	0.692000														59			4		0	0	0.000602214	0	0
CPB1	1360	broad.mit.edu	37	3	148577630	148577630	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:148577630G>A	uc003ewl.3	+	10	1118	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	365					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGACGACTGGGCTTATGACC	0.448000														56			24		0	0	0.00047179	0	0
NTF3	4908	broad.mit.edu	37	12	5603469	5603469	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:5603469C>T	uc001qnl.4	+	0	172	c.89C>T	c.(88-90)tCg>tTg	p.S30L	NTF3_uc001qnk.4_Missense_Mutation_p.S43L	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	30					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCAGAAGACTCGCTCAATTCC	0.428000														70			28		0	0	0.00127121	0	0
DISP1	84976	broad.mit.edu	37	1	223178084	223178084	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:223178084C>T	uc001hnu.2	+	9	3671	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1115					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGATGCTCATCATGTGTATCA	0.542000														447			385		0	0	0.000781405	0	0
SIKE1	80143	broad.mit.edu	37	1	115323135	115323135	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:115323135G>A	uc001efp.4	-	0	174	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	SIKE1_uc001efo.4_Nonsense_Mutation_p.Q32*	NM_001102396	NP_001095866	Q9BRV8	SIKE1_HUMAN	Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 1, mRNA.	32						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCCGCCGACTGATCCACCAGC	0.657000														29			14		0	0	0.00244969	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030496	10030496	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:10030496G>T	uc002wno.3	+	6	1672	c.1279G>T	c.(1279-1281)Ggg>Tgg	p.G427W	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.G427W|ANKRD5_uc010gbz.3_Missense_Mutation_p.G238W	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	427							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						AGGAAAGAAAGGGAAATTTGT	0.418000														53			21		7.41877e-09	2.46031e-08	0.00188189	1	0
PTPRK	5796	broad.mit.edu	37	6	128294914	128294914	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:128294914C>T	uc003qbk.3	-	27	4392	c.4025G>A	c.(4024-4026)cGa>cAa	p.R1342Q	PTPRK_uc010kfc.3_Missense_Mutation_p.R1349Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1343Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1365Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1342	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGCACTTCTCGATGAGAAGC	0.478000														65			21		0	0	0.00152264	0	0
LTBP2	4053	broad.mit.edu	37	14	75052711	75052711	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:75052711C>T	uc001xqa.3	-	2	1063	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	226					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGTCAAATTCCTCATCGGGA	0.682000														10			14		0	0	0.000422831	0	0
OBSCN	84033	broad.mit.edu	37	1	228494858	228494858	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:228494858C>T	uc009xez.1	+	44	12227	c.12183C>T	c.(12181-12183)ctC>ctT	p.L4061L	OBSCN_uc001hsn.3_Silent_p.L4061L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4061	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCAGCCTCTCTGTCCGTG	0.632000														75			14		0	0	0.000422831	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912595	29912596	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:29912595_29912596AG>GA	uc002dut.3	+	0	449_450	c.303_304AG>GA	c.(301-306)caagac>caGAac	p.D102N	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	102					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGGGCTCCCAAGACATGCAGGC	0.698000														61			18		0	0	6.4e-05	0	0
GGT1	2678	broad.mit.edu	37	22	25019805	25019805	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr22:25019805C>T	uc003aan.1	+	10	1429	c.942C>T	c.(940-942)caC>caT	p.H314H	GGT1_uc003aas.1_Silent_p.H314H|GGT1_uc003aat.1_Silent_p.H314H|GGT1_uc003aau.2_Silent_p.H314H|GGT1_uc003aav.2_Silent_p.H314H|GGT1_uc003aaw.2_Silent_p.H314H|GGT1_uc003aax.2_Silent_p.H314H	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	314					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGACGTACCACCGCATCGTAG	0.617000														18			9		0	0	0.00136819	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911136	89911136	+	Missense_Mutation	SNP	G	A	A	rs150474449		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:89911136G>A	uc001pdf.4	+	15	1818	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	NAALAD2_uc009yvx.3_Missense_Mutation_p.R537Q|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	570	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTCAATTACGAGGAGCACTG	0.348000														36			12		0	0	0.00136819	0	0
DNAH8	1769	broad.mit.edu	37	6	38875794	38875794	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:38875794G>A	uc021yzh.1	+	63	9520	c.9411G>A	c.(9409-9411)atG>atA	p.M3137I	DNAH8_uc003ooe.2_Missense_Mutation_p.M2920I|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCAGTGATGAAGAGGGAGC	0.398000														63			23		0	0	0.00047179	0	0
ZNF711	7552	broad.mit.edu	37	X	84525120	84525120	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:84525120G>A	uc004eeq.3	+	8	2100	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	ZNF711_uc004eep.3_Missense_Mutation_p.R359K|ZNF711_uc004eeo.3_Missense_Mutation_p.R359K|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	359					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCCAAAAAGAGGAGAAGGGGA	0.348000														28			7		0	0	0.00198382	0	0
OR4S2	219431	broad.mit.edu	37	11	55418857	55418857	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:55418857C>T	uc001nhs.1	+	0	478	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CCAAGTGGCTCTGGTAGTCCA	0.433000														37			63		0	0	0.000781405	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605400	140605400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:140605400C>T	uc003ljb.3	+	0	2323	c.2323C>T	c.(2323-2325)Caa>Taa	p.Q775*		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	775					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAATTTTCAAGTTCATGA	0.403000														40			16		0	0	0.000566183	0	0
HECA	51696	broad.mit.edu	37	6	139488217	139488217	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:139488217C>T	uc003qin.3	+	1	1353	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	356					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCACTCACATCCCCAGGCATA	0.607000														35			15		0	0	0.000422831	0	0
FCGBP	8857	broad.mit.edu	37	19	40408704	40408704	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:40408704G>A	uc002omp.4	-	7	4143	c.4135C>T	c.(4135-4137)Ccc>Tcc	p.P1379S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1379	VWFD 3.					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)			TAGTTTCCGGGGACGGTGACC	0.582000														54			34		0	0	0.00058488	0	0
ATP1A3	478	broad.mit.edu	37	19	42479928	42479928	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:42479928C>G	uc002osh.3	-	15	2270	c.2116G>C	c.(2116-2118)Ggg>Cgg	p.G706R	ATP1A3_uc010xwf.2_Missense_Mutation_p.G717R|ATP1A3_uc010xwg.2_Missense_Mutation_p.G676R|ATP1A3_uc002osg.3_Missense_Mutation_p.G706R|ATP1A3_uc010xwh.2_Missense_Mutation_p.G719R			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	706					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ACACCATCCCCGGTCACAGCC	0.617000														63			12		0	0	0.00136819	0	0
KRT9	3857	broad.mit.edu	37	17	39724582	39724582	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:39724582A>C	uc002hxe.4	-	5	1292	c.1226T>G	c.(1225-1227)cTg>cGg	p.L409R	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	409	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GATCATCTGCAGCTGGCCACA	0.512000														62			8		0	0	0.000274275	0	0
THRB	7068	broad.mit.edu	37	3	24231772	24231772	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:24231772C>T	uc003ccz.4	-	5	596	c.76G>A	c.(76-78)Gac>Aac	p.D26N	THRB_uc010hfe.3_Missense_Mutation_p.D26N|THRB_uc003ccy.4_Missense_Mutation_p.D26N|THRB_uc003ccx.4_Missense_Mutation_p.D26N|THRB_uc003cdc.3_Missense_Mutation_p.D21N|THRB_uc003cdd.3_Missense_Mutation_p.D21N|THRB_uc003cde.1_Missense_Mutation_p.D21N|THRB_uc021wuc.1_Missense_Mutation_p.D21N	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	26	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.D26N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGCTTCCAGTCGTGTTCTCGG	0.493000														83			17		0	0	0.00074312	0	0
PKHD1	5314	broad.mit.edu	37	6	51524233	51524233	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:51524233G>A	uc003pah.1	-	60	10967	c.10691C>T	c.(10690-10692)gCc>gTc	p.A3564V		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3564					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAGTGAGGGCCAAGTGAAT	0.408000														53			13		0	0	0.00136819	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	871	871	+	RNA	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrGL000237.1:871C>T	uc011mgu.1	-	1		c.347G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		tctccatcaccgtggctgcca	0.582000														17			3		0	0	0.00024832	0	0
SALL1	6299	broad.mit.edu	37	16	51175508	51175508	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:51175508G>A	uc021tif.1	-	1	656	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	SALL1_uc021tid.1_Nonsense_Mutation_p.Q112*|SALL1_uc021tie.1_Nonsense_Mutation_p.Q209*|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	209					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D112N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGAGAACTGGGCCACCGCC	0.607000														73			34		0	0	0.000953801	0	0
KDR	3791	broad.mit.edu	37	4	55984967	55984967	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:55984967C>T	uc003has.3	-	3	464	c.162_splice	c.e3-1	p.R54_splice	KDR_uc003hat.1_Splice_Site_p.R54_splice|KDR_uc011bzx.2_Splice_Site_p.R54_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	54	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTCTGTCCCCTGAAAAATT	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				48			22		0	0	0.00047179	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:21036450G>A	uc010sil.2	+	10	1661	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	SLCO1B3_uc001rek.3_Silent_p.R532R|SLCO1B3_uc001rel.3_Silent_p.R532R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000														53			26		0	0	0.00106085	0	0
USH1C	10083	broad.mit.edu	37	11	17542914	17542914	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:17542914C>T	uc001mnf.3	-	12	1173	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	USH1C_uc001mne.3_Missense_Mutation_p.R355K|USH1C_uc009yhb.3_Missense_Mutation_p.R336K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.R319K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	355					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTTCCGGTATCTCTCATTTTC	0.502000														76			39		0	0	0.00195071	0	0
ADAM2	2515	broad.mit.edu	37	8	39624428	39624428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:39624428C>T	uc003xnj.3	-	13	1521	c.1446G>A	c.(1444-1446)tgG>tgA	p.W482*	ADAM2_uc003xnk.3_Nonsense_Mutation_p.W463*|ADAM2_uc011lck.2_Nonsense_Mutation_p.W482*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.W356*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	482	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTATACAGATCCATTGATTCA	0.388000														26			32		0	0	0.00283554	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431368	110431368	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:110431368G>A	uc003yne.3	+	21	2507	c.2403G>A	c.(2401-2403)acG>acA	p.T801T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	801					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTAAGAACGAAATACACTG	0.373000										HNSCC(38;0.096)				35			14		0	0	0.000566183	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785202	209785202	+	Silent	SNP	G	A	A	rs147599953	byFrequency	TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:209785202G>A	uc001hhd.3	+	10	1083	c.981G>A	c.(979-981)ccG>ccA	p.P327P	CAMK1G_uc001hhf.4_Silent_p.P327P|CAMK1G_uc001hhe.3_Silent_p.P327P	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	327						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGCACAGCCCGGGCGTCCGCC	0.597000														89			26		0	0	0.000586117	0	0
THSD7B	80731	broad.mit.edu	37	2	138425350	138425350	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:138425350G>A	uc002tva.1	+	25	4568	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1556Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAGATGGCCGAGTAAAAATT	0.378000														9			5		0	0	0.000602214	0	0
ZFP64	55734	broad.mit.edu	37	20	50769728	50769728	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:50769728G>A	uc002xwl.3	-	5	1352	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.R333C|ZFP64_uc002xwn.3_Missense_Mutation_p.R281C	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGTGCACGCGGCTGTGCTTC	0.592000														64			31		0	0	0.00209593	0	0
ANK3	288	broad.mit.edu	37	10	61868658	61868658	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:61868658G>A	uc001jky.3	-	26	3441	c.3103C>T	c.(3103-3105)Ccc>Tcc	p.P1035S	ANK3_uc001jkw.3_Missense_Mutation_p.P169S|ANK3_uc009xpa.3_Missense_Mutation_p.P169S|ANK3_uc001jkx.3_Missense_Mutation_p.P213S|ANK3_uc010qih.2_Missense_Mutation_p.P1036S|ANK3_uc001jkz.4_Missense_Mutation_p.P1029S|ANK3_uc001jla.1_Missense_Mutation_p.P101S|ANK3_uc001jlb.1_Missense_Mutation_p.P553S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1035	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P1035S(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCACCATGGGGGGTGGGTTG	0.502000														33			23		0	0	0.00278032	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092879	151092879	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:151092879C>T	uc022cgv.1	+	0	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I	MAGEA4_uc004fez.3_Missense_Mutation_p.T248I|MAGEA4_uc004ffa.3_Missense_Mutation_p.T248I|MAGEA4_uc004ffb.3_Missense_Mutation_p.T248I|MAGEA4_uc022cgu.1_Missense_Mutation_p.T276I|MAGEA4_uc004ffc.3_Missense_Mutation_p.T248I|MAGEA4_uc004ffd.3_Missense_Mutation_p.T248I	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	248	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTGCTCACCCAAGATTGG	0.587000														76			20		0	0	0.00121646	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359494	70359494	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:70359494C>T	uc003hek.4	-	1	834	c.787G>A	c.(787-789)Gat>Aat	p.D263N	UGT2B4_uc011cap.2_Missense_Mutation_p.D127N|UGT2B4_uc003hel.4_Missense_Mutation_p.D263N	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	263					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATTGAAAATCCCAGTAGTTT	0.418000														60			19		0	0	0.00074312	0	0
SIGIRR	59307	broad.mit.edu	37	11	408110	408110	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:408110C>T	uc001lpg.3	-	2	456	c.303G>A	c.(301-303)caG>caA	p.Q101Q	SIGIRR_uc001lpd.2_Silent_p.Q101Q|SIGIRR_uc001lpf.2_Silent_p.Q101Q|SIGIRR_uc001lpe.1_Silent_p.Q101Q			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	101	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	p.I100M(2)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTGATGTTCTGGATGGAGC	0.582000														76			14		0	0	0.000308642	0	0
OR10H5	284433	broad.mit.edu	37	19	15905608	15905608	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:15905608C>T	uc010xos.2	+	0	750	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTGTGGTGGTCGTGCACTATG	0.562000														20			6		0	0	0.000274275	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325833	79325833	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:79325833C>G	uc010mpk.3	-	7	1481	c.1357G>C	c.(1357-1359)Gga>Cga	p.G453R	PRUNE2_uc022bih.1_Missense_Mutation_p.G275R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	453					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCACCTTCTCCCACGGGGCTG	0.597000														10			13		0	0	0.000308642	0	0
DLG1	1739	broad.mit.edu	37	3	196792579	196792579	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:196792579G>A	uc010ial.3	-	22	2492	c.2233_splice	c.e22+1	p.H745_splice	DLG1_uc011bub.2_Splice_Site_p.H641_splice|DLG1_uc011buc.2_Splice_Site_p.H629_splice|DLG1_uc011bud.2_Splice_Site_p.H428_splice|DLG1_uc003fxo.4_Splice_Site_p.H745_splice|DLG1_uc003fxn.4_Splice_Site_p.H767_splice|DLG1_uc011bue.2_Splice_Site_p.H733_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	745	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTTACTTACGAGGAACACAG	0.328000														32			18		0	0	0.00121646	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792257	137792257	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:137792257C>T	uc003vtz.3	+	6	873	c.786C>T	c.(784-786)ttC>ttT	p.F262F	AKR1D1_uc011kqf.2_Silent_p.F221F|AKR1D1_uc011kqe.1_Silent_p.F262F|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	262					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.R261C(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTTTGCGTTTCAACATCCAGC	0.378000														78			20		0	0	0.00229938	0	0
SAMD7	344658	broad.mit.edu	37	3	169656266	169656266	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:169656266G>A	uc003fgd.3	+	8	1580	c.1313G>A	c.(1312-1314)gGa>gAa	p.G438E	SAMD7_uc003fge.3_Missense_Mutation_p.G438E|SAMD7_uc011bpo.2_Missense_Mutation_p.G339E	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	438								p.G438G(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATTCCTAAAGGAATTGAGCGA	0.408000														17			9		0	0	0.00136819	0	0
STBD1	8987	broad.mit.edu	37	4	77231024	77231024	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:77231024T>G	uc003hka.3	+	1	1692	c.948T>G	c.(946-948)gaT>gaG	p.D316E	FAM47E_uc003hjy.3_3'UTR|FAM47E_uc011cbv.2_3'UTR|STBD1_uc011cbw.2_Missense_Mutation_p.D167E	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	316	CBM20.				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	p.A315V(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			TGCCTGCAGATACAGTGGTGG	0.473000														73			17		0	0	0.00074312	0	0
BLK	640	broad.mit.edu	37	8	11412309	11412309	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:11412309A>G	uc003wty.3	+	6	1111	c.530A>G	c.(529-531)tAt>tGt	p.Y177C		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	177	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATCAAGCACTATAAGATCCGC	0.567000														43			20		0	0	0.00278032	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719021	40719021	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:40719021C>T	uc002ona.3	+	7	2051	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	588					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGTGGTCATCAAGTGCCCCC	0.622000														9			5		0	0	0.00116845	0	0
AMPD3	272	broad.mit.edu	37	11	10500204	10500204	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:10500204C>T	uc001min.1	+	2	725	c.380C>T	c.(379-381)tCc>tTc	p.S127F	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.S118F|AMPD3_uc001mio.1_Missense_Mutation_p.S118F|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.S125F|AMPD3_uc009yfy.2_Missense_Mutation_p.S118F	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	118					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGAGCCACTTCCCTGCCCACG	0.617000														51			33		0	0	0.000814825	0	0
DNAH7	56171	broad.mit.edu	37	2	196741347	196741347	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:196741347G>A	uc002utj.4	-	36	6139	c.6038C>T	c.(6037-6039)gCt>gTt	p.A2013V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2013	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGAGTTTGAGCTGCTGTAGT	0.323000														44			19		0	0	0.00152264	0	0
DNAH7	56171	broad.mit.edu	37	2	196726449	196726449	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:196726449C>T	uc002utj.4	-	41	7829	c.7728G>A	c.(7726-7728)aaG>aaA	p.K2576K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2576	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCTTCTTTTCTTTTCTAACA	0.284000														35			10		0	0	0.000673444	0	0
LRRC17	10234	broad.mit.edu	37	7	102579980	102579980	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:102579980T>G	uc003vau.3	+	2	1265	c.876T>G	c.(874-876)caT>caG	p.H292Q	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.H292Q	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	292					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAGATGTTCATGAGCTGAAGA	0.403000														146			34		0	0	0.000814825	0	0
LPAR1	1902	broad.mit.edu	37	9	113703966	113703966	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:113703966G>A	uc011lwo.2	-	1	533	c.531C>T	c.(529-531)atC>atT	p.I177I	LPAR1_uc004bfa.3_Silent_p.I176I|LPAR1_uc011lwm.2_Silent_p.I177I|LPAR1_uc004bfc.3_Silent_p.I176I|LPAR1_uc011lwn.2_Silent_p.I158I|LPAR1_uc004bfb.3_Silent_p.I176I|LPAR1_uc010mub.3_Silent_p.I176I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	176					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.V177I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CACCCATAACGATGGCCATAG	0.498000														32			26		0	0	0.000720815	0	0
LRRC33	375387	broad.mit.edu	37	3	196381472	196381472	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:196381472A>G	uc003fwv.3	+	1	166	c.62A>G	c.(61-63)aAc>aGc	p.N21S		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	21						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGCTGGAGGAACAGAAGCGGA	0.577000														49			18		0	0	0.000958276	0	0
UBXN4	23190	broad.mit.edu	37	2	136505928	136505928	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:136505928C>T	uc002tur.3	+	1	485	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	58					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTATTAAAATCGATACCAAAA	0.289000														34			7		0	0	0.00198382	0	0
NRAP	4892	broad.mit.edu	37	10	115365969	115365969	+	Silent	SNP	G	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:115365969G>T	uc001lal.3	-	32	3939	c.3775C>A	c.(3775-3777)Cga>Aga	p.R1259R	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Silent_p.R1259R|NRAP_uc001lak.3_Silent_p.R1224R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1259						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTTTTTGCTCGGATGAACTCG	0.433000														54			6		0.00198382	0.00647981	0.00198382	1	0
CARD11	84433	broad.mit.edu	37	7	2952944	2952944	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:2952944A>G	uc003smv.3	-	21	3330	c.2996T>C	c.(2995-2997)aTg>aCg	p.M999T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	999	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTGAACTCCATGGCACCTCC	0.662000			Mis		DLBCL									107			24		0	0	0.00047179	0	0
OR10A7	121364	broad.mit.edu	37	12	55614962	55614962	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:55614962G>A	uc010spf.2	+	0	154	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V51V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TACCAGTGTGGATCTCGCACT	0.393000														144			61		0	0	0.000781405	0	0
SYNGR4	23546	broad.mit.edu	37	19	48879000	48879000	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:48879000C>T	uc002piz.3	+	3	713	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	154	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TCTTCTCCATCCTTGTCTGGG	0.602000														47			17		0	0	0.00121646	0	0
CDHR2	54825	broad.mit.edu	37	5	176002198	176002198	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:176002198G>A	uc021yie.1	+	7	883	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CDHR2_uc003mem.2_Silent_p.E203E|CDHR2_uc003men.1_Silent_p.E203E	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	203	Cadherin 2.				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						ACCAGCTGGAGCTGAAGGCCT	0.637000														42			39		0	0	0.0025221	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635657	141635657	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:141635657C>T	uc003vwv.1	-	4	499	c.302G>A	c.(301-303)gGa>gAa	p.G101E	CLEC5A_uc011krm.1_Missense_Mutation_p.G78E|CLEC5A_uc003vww.1_Missense_Mutation_p.G101E|CLEC5A_uc010lnq.1_Missense_Mutation_p.G78E|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	101	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGATCCTTTTCCTTTGCAAAA	0.443000														76			48		0	0	0.000781405	0	0
ABCC1	4363	broad.mit.edu	37	16	16215894	16215894	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:16215894C>T	uc010bvi.3	+	23	3628	c.3453C>T	c.(3451-3453)gtC>gtT	p.V1151V	ABCC1_uc010bvj.3_Silent_p.V1092V|ABCC1_uc010bvk.3_Silent_p.V1095V|ABCC1_uc010bvl.3_Silent_p.V1151V|ABCC1_uc010bvm.3_Silent_p.V1036V|ABCC1_uc002del.4_Silent_p.V1045V|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.V117V	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1151	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCTCCCCGGTCTATTCCCATT	0.597000														41			13		0	0	0.00136819	0	0
GPR98	84059	broad.mit.edu	37	5	89979723	89979723	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:89979723G>A	uc003kju.3	+	27	6081	c.5985G>A	c.(5983-5985)caG>caA	p.Q1995Q	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1995					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAACCCAGAACATCACAC	0.368000														6			11		0	0	0.000978159	0	0
ZNF280C	55609	broad.mit.edu	37	X	129349848	129349848	+	Silent	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:129349848A>G	uc004evm.3	-	13	1958	c.1755T>C	c.(1753-1755)gcT>gcC	p.A585A	ZNF280C_uc010nrf.2_Silent_p.A536A	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTTGGACTTAGCTATACGTC	0.373000														195			38		0	0	0.00128727	0	0
OR10J1	26476	broad.mit.edu	37	1	159410507	159410507	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:159410507C>T	uc010piv.2	+	0	996	c.959C>T	c.(958-960)tCc>tTc	p.S320F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	320					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGGAAGTTTTCCTGACCATGT	0.493000														62			23		0	0	0.00278032	0	0
HNF1B	6928	broad.mit.edu	37	17	36091655	36091655	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:36091655G>A	uc002hok.4	-	3	1197	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	HNF1B_uc021tvu.1_Silent_p.L96L|HNF1B_uc010wdi.2_Silent_p.L300L|HNF1B_uc021tvv.1_Silent_p.L326L|HNF1B_uc021tvw.1_Silent_p.L300L|HNF1B_uc010cve.1_Silent_p.L134L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	326					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AGAGGGTTCAGGCTGTGAGTC	0.597000														320			171		0	0	0.000781405	0	0
NPY5R	4889	broad.mit.edu	37	4	164272238	164272238	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:164272238C>T	uc003iqn.3	+	3	995	c.813C>T	c.(811-813)ctC>ctT	p.L271L	NPY5R_uc021xtw.1_Silent_p.L271L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	271					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGGTGAAACTCTCTGGCAGCC	0.398000														69			19		0	0	0.00152264	0	0
DDX10	1662	broad.mit.edu	37	11	108594053	108594053	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:108594053C>T	uc001pkm.3	+	12	1894	c.1829C>T	c.(1828-1830)aCc>aTc	p.T610I	DDX10_uc001pkl.1_Missense_Mutation_p.T610I	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	610							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CTTCCTAACACCAGTGAGGCA	0.438000			T	NUP98	AML*									21			16		0	0	0.000958276	0	0
NTNG1	22854	broad.mit.edu	37	1	107691265	107691265	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:107691265C>T	uc001dvh.4	+	1	768	c.50C>T	c.(49-51)tCc>tTc	p.S17F	NTNG1_uc001dvc.4_Missense_Mutation_p.S17F|NTNG1_uc010out.2_Missense_Mutation_p.S17F|NTNG1_uc001dvf.4_Missense_Mutation_p.S17F|NTNG1_uc001dvd.1_Missense_Mutation_p.S17F	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	17					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GTTACGGTGTCCTCAGTGATG	0.423000														88			41		0	0	0.0025221	0	0
PARD3	56288	broad.mit.edu	37	10	34400331	34400331	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:34400331G>A	uc010qej.2	-	24	4167	c.3837C>T	c.(3835-3837)gtC>gtT	p.V1279V	PARD3_uc010qep.2_Silent_p.V1189V|PARD3_uc010qeq.2_Silent_p.V1167V|PARD3_uc010qek.2_Silent_p.V1276V|PARD3_uc010qel.2_Silent_p.V1242V|PARD3_uc010qem.2_Silent_p.V1263V|PARD3_uc010qen.2_Silent_p.V1233V|PARD3_uc010qeo.2_Silent_p.V1196V	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1279					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTTCCAGCATGACCCTGGCGT	0.592000														29			14		0	0	0.000566183	0	0
CDH18	1016	broad.mit.edu	37	5	19520879	19520879	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:19520879C>T	uc003jgd.3	-	9	1933	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	CDH18_uc011cnm.2_Missense_Mutation_p.D467N|CDH18_uc003jgc.3_Missense_Mutation_p.D467N|CDH18_uc021xwu.1_Missense_Mutation_p.D467N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	467	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTCAGCAAATCAGGATTATCT	0.373000														47			34		0	0	0.00285205	0	0
C10orf96	374355	broad.mit.edu	37	10	118137974	118137974	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:118137974G>A	uc001lck.3	+	7	944	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	231										kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		AAGATGACATGGAAAGTGTTT	0.274000														28			25		0	0	0.00127121	0	0
EVX1	2128	broad.mit.edu	37	7	27284840	27284840	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:27284840G>A	uc003szd.1	+	1	1087	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	EVX1_uc011jzn.1_Missense_Mutation_p.E19K|EVX1_uc010kuy.1_Silent_p.R182R	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GCTGGAGAAGGAATTCTACCG	0.647000														64			26		0	0	0.000586117	0	0
MGAM	8972	broad.mit.edu	37	7	141764249	141764249	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:141764249C>T	uc003vwy.3	+	36	4465	c.4411C>T	c.(4411-4413)Cca>Tca	p.P1471S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1471	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGATCCTCCCAGACGGCTC	0.582000														6			10		0	0	0.000442599	0	0
DOCK3	1795	broad.mit.edu	37	3	51266179	51266179	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:51266179C>T	uc011bds.2	+	17	1758	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	579	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCTAATATTCCTTCTAGCCT	0.478000														46			15		0	0	0.00244969	0	0
KCNAB1	7881	broad.mit.edu	37	3	156139410	156139410	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:156139410T>C	uc003far.2	+	1	345	c.281T>C	c.(280-282)cTt>cCt	p.L94P	KCNAB1_uc011bon.1_Missense_Mutation_p.L94P|KCNAB1_uc003fas.2_Missense_Mutation_p.L83P|KCNAB1_uc003fat.2_Missense_Mutation_p.L76P|KCNAB1_uc010hvt.1_Missense_Mutation_p.L76P	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	94						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TATAGGAATCTTGGAAAATCA	0.463000														90			32		0	0	0.00058488	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356123	40356123	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:40356123G>A	uc003gva.1	+	4	1042	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	342					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TGGTCATCCTGAAATACATGT	0.557000														168			86		0	0	0.000781405	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386119	49386119	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:49386119C>T	uc001jgi.3	-	21	3197	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E924K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E925K|FRMPD2_uc001jgf.3_5'Flank|FRMPD2_uc001jgg.3_5'Flank|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	956	PDZ 2.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTCCCATCTTCTTTAACCAGT	0.428000														15			5		0	0	0.000274275	0	0
ITGA4	3676	broad.mit.edu	37	2	182343501	182343501	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:182343501G>A	uc002unu.3	+	4	1337	c.574G>A	c.(574-576)Gga>Aga	p.G192R	ITGA4_uc010zfl.1_Missense_Mutation_p.G192R	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	192					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAAAAAATTTGGAGAAAATTT	0.234000														13			6		0	0	0.00116845	0	0
LRRC18	474354	broad.mit.edu	37	10	50122162	50122162	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:50122162G>A	uc001jhd.3	-	0	119	c.39C>T	c.(37-39)atC>atT	p.I13I	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.I13I	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	13						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCTTGAGGGTGATCTTCTTGC	0.443000														36			21		0	0	0.00278032	0	0
TAF7L	54457	broad.mit.edu	37	X	100532599	100532599	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:100532599G>A	uc004ehb.3	-	8	970	c.944C>T	c.(943-945)tCg>tTg	p.S315L	TAF7L_uc004eha.3_Missense_Mutation_p.S229L|TAF7L_uc004ehc.2_Missense_Mutation_p.S229L	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	315					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGTACCTGACGAGGTATGACC	0.433000														191			32		0	0	0.000692331	0	0
CR1	1378	broad.mit.edu	37	1	207751265	207751265	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:207751265G>A	uc001hfy.3	+	20	3443	c.3303G>A	c.(3301-3303)ggG>ggA	p.G1101G	CR1_uc009xcl.1_Silent_p.G651G|CR1_uc001hfx.3_Silent_p.G1551G|CR1_uc021pij.1_Silent_p.G1101G	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1101	Sushi 17.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAAGCAGAGGGAGAAAGGTGT	0.517000														123			94		0	0	0.000781405	0	0
IZUMO2	126123	broad.mit.edu	37	19	50657946	50657946	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:50657946C>T	uc002prp.1	-	5	621	c.534G>A	c.(532-534)atG>atA	p.M178I		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	Homo sapiens IZUMO family member 2 (IZUMO2), mRNA.	178						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ATTTGCTGTCCATCTGGTACT	0.612000														64			5		0	0	0.000602214	0	0
PLEC	5339	broad.mit.edu	37	8	144995049	144995049	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:144995049C>T	uc003zaf.1	-	31	9521	c.9351G>A	c.(9349-9351)ctG>ctA	p.L3117L	PLEC_uc003zab.1_Silent_p.L2980L|PLEC_uc003zac.1_Silent_p.L2984L|PLEC_uc003zad.2_Silent_p.L2980L|PLEC_uc003zae.1_Silent_p.L2948L|PLEC_uc003zag.1_Silent_p.L2958L|PLEC_uc003zah.2_Silent_p.L2966L|PLEC_uc003zaj.2_Silent_p.L3007L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3117	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCTGGCACCAGGCTGCGCA	0.642000														14			11		0	0	0.000978159	0	0
OR13G1	441933	broad.mit.edu	37	1	247836218	247836218	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:247836218G>A	uc001idi.1	-	0	126	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCAATGATGATGAGCATGT	0.423000														55			22		0	0	0.00229938	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49034802	49034802	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:49034802C>T	uc004dmy.1	-	5	613	c.587G>A	c.(586-588)gGg>gAg	p.G196E	PRICKLE3_uc011mmv.1_Missense_Mutation_p.G128E|PRICKLE3_uc011mmw.1_Missense_Mutation_p.G115E|PRICKLE3_uc011mmx.1_Missense_Mutation_p.G158E|PRICKLE3_uc011mmy.1_Missense_Mutation_p.G183E	NM_006150	NP_006141	O43900	PRIC3_HUMAN	Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA.	196	LIM zinc-binding 1.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TGCGATGTCCCCACCTCCAAT	0.567000														22			7		0	0	0.00307968	0	0
SMS	6611	broad.mit.edu	37	X	21997082	21997082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:21997082C>T	uc004dag.3	+	6	976	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	250					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	AGACTGCTATCAGGTAATTGT	0.343000														88			19		0	0	0.00074312	0	0
HIP1R	9026	broad.mit.edu	37	12	123335413	123335413	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:123335413C>T	uc001udj.1	+	5	529	c.470C>T	c.(469-471)aCa>aTa	p.T157I	HIP1R_uc001udg.1_Missense_Mutation_p.T145I|HIP1R_uc001udi.1_Missense_Mutation_p.T157I	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	157					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CTGGAGGTGACAGATGAGGTA	0.622000														57			17		0	0	0.00121646	0	0
ARL5A	26225	broad.mit.edu	37	2	152684689	152684689	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:152684689A>G	uc002txx.1	-	0	321	c.2T>C	c.(1-3)aTg>aCg	p.M1T	ARL5A_uc010zcc.2_Intron|ARL5A_uc002txv.1_Intron|ARL5A_uc002txw.1_Intron	NM_012097	NP_817114	Q9Y689	ARL5A_HUMAN	Homo sapiens ADP-ribosylation factor-like 5A (ARL5A), transcript variant 1, mRNA.	1					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		GAGAATTCCCATTCTCGGGCA	0.677000														28			5		0	0	0.000602214	0	0
ZNF732	654254	broad.mit.edu	37	4	289909	289909	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:289909G>A	uc021xka.1	-	1	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF732_uc011buu.1_5'UTR	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CTTCTGGAGAGAATTCTATGG	0.418000														36			10		0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9091671	9091671	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:9091671G>A	uc002mkp.3	-	0	348	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	48	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTCACCACGATTGCACCTG	0.517000														36			14		0	0	0.00244969	0	0
RNF17	56163	broad.mit.edu	37	13	25433214	25433214	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr13:25433214G>A	uc001upr.3	+	25	3727	c.3686G>A	c.(3685-3687)tGg>tAg	p.W1229*	RNF17_uc010tdd.1_Nonsense_Mutation_p.W1088*|RNF17_uc010tde.2_Nonsense_Mutation_p.W1225*|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Nonsense_Mutation_p.W1168*|RNF17_uc010aac.3_Nonsense_Mutation_p.W427*|RNF17_uc010aad.3_Nonsense_Mutation_p.W281*	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1229	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTTATTTCTGGAAAAAAGGA	0.373000														25			10		0	0	0.000673444	0	0
P2RX7	5027	broad.mit.edu	37	12	121603181	121603181	+	Silent	SNP	C	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:121603181C>G	uc001tzm.3	+	5	707	c.555C>G	c.(553-555)gcC>gcG	p.A185A	P2RX7_uc001tzn.3_Silent_p.A95A|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_Silent_p.A15A	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	185						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGAACAGTGCCGAAAACTTCA	0.552000														228			40		0	0	0.00195071	0	0
NTNG1	22854	broad.mit.edu	37	1	107937858	107937858	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:107937858C>T	uc001dvh.4	+	3	1688	c.970C>T	c.(970-972)Cca>Tca	p.P324S	NTNG1_uc001dvc.4_Missense_Mutation_p.P324S|NTNG1_uc010out.2_Missense_Mutation_p.P324S|NTNG1_uc001dvf.4_Missense_Mutation_p.P324S|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.P324S	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	324	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding	p.P324A(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CACTACAGGTCCAGACTGTGG	0.493000														106			48		0	0	0.000781405	0	0
MMP3	4314	broad.mit.edu	37	11	102710983	102710983	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:102710983C>T	uc001phj.1	-	6	856	c.791_splice	c.e6-1	p.G264_splice		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	264					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGGGAGGTCCTAAAGGGAA	0.483000														29			8		0	0	0.00307968	0	0
NAV2	89797	broad.mit.edu	37	11	19955287	19955287	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:19955287G>A	uc010rdm.2	+	7	1927	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	NAV2_uc001mpp.3_Silent_p.E435E|NAV2_uc001mpr.4_Silent_p.E499E|NAV2_uc021qew.1_Silent_p.E499E	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	522						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						aggataaggagaaaagcaagg	0.532000														41			7		0	0	0.00198382	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437807	42437807	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:42437807G>A	uc001zoz.3	-	15	1838	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	PLA2G4F_uc010bcq.3_5'UTR|PLA2G4F_uc001zoy.3_Silent_p.F214F|PLA2G4F_uc001zpa.3_Silent_p.F333F|PLA2G4F_uc010bcr.3_Silent_p.F333F|PLA2G4F_uc010bcs.3_Silent_p.F369F	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	582	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACCACTCCAGGAAGCTGAGGC	0.622000														86			35		0	0	0.00128727	0	0
OR52M1	119772	broad.mit.edu	37	11	4567252	4567252	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:4567252C>T	uc010qyf.2	+	0	832	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCACACTCTGCTGGCCAA	0.498000														41			10		0	0	0.000442599	0	0
ADAM7	8756	broad.mit.edu	37	8	24326320	24326320	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:24326320C>T	uc003xeb.3	+	6	733	c.620C>T	c.(619-621)gCt>gTt	p.A207V		NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	207	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTCATTGTTGCTGATGATACT	0.318000														49			19		0	0	0.00188189	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454751	114454751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:114454751C>T	uc001eeg.3	+	3	1831	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.Q387*	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	513					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACTTTTTCCAGGCAGGGTA	0.483000								Other identified genes with known or suspected DNA repair function						119			41		0	0	0.000781405	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643603	88643604	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:88643603_88643604GG>AA	uc010voz.2	+	1	272_273	c.72_73GG>AA	c.(70-75)tcggac>tcAAac	p.D25N	ZC3H18_uc021tmm.1_Missense_Mutation_p.D25N|ZC3H18_uc010voy.1_Missense_Mutation_p.D25N|ZC3H18_uc002fky.3_Missense_Mutation_p.D25N|ZC3H18_uc010vpa.1_Missense_Mutation_p.D25N	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	25						nucleus	nucleic acid binding|zinc ion binding	p.D25D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGGGACTCTCGGACGATGACAT	0.599000														25			11		0	0	6.4e-05	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759022	121759022	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:121759022C>T	uc003ksw.1	+	3	796	c.590C>T	c.(589-591)tCt>tTt	p.S197F	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S197F|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S244F|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S197F	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	197					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACAGGAAGTTCTGAGAGCTCA	0.463000														53			45		0	0	0.0025221	0	0
OR51F2	119694	broad.mit.edu	37	11	4842792	4842792	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:4842792C>T	uc010qyn.2	+	0	177	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I59N(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCATGATCCTGTTTGTGG	0.488000														153			16		0	0	0.000566183	0	0
PLCB1	23236	broad.mit.edu	37	20	8717814	8717814	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:8717814A>G	uc002wnb.3	+	19	2186	c.2183A>G	c.(2182-2184)gAa>gGa	p.E728G	PLCB1_uc010zrb.1_Missense_Mutation_p.E627G|PLCB1_uc002wna.3_Missense_Mutation_p.E728G|PLCB1_uc002wnc.1_Missense_Mutation_p.E627G|PLCB1_uc002wnd.1_Missense_Mutation_p.E305G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	728	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTGTCTGGGAAGAAGAACCT	0.378000														55			16		0	0	0.000958276	0	0
ZNF75D	7626	broad.mit.edu	37	X	134426375	134426375	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:134426375C>T	uc022ceq.1	-	2	826	c.436G>A	c.(436-438)Gag>Aag	p.E146K	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	146					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGCACTGCCTCCTTTCCCAGC	0.512000														75			13		0	0	0.000566183	0	0
C18orf34	374864	broad.mit.edu	37	18	30992029	30992029	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:30992029G>A	uc010xbr.1	-	1	166	c.24C>T	c.(22-24)tcC>tcT	p.S8S	C18orf34_uc002kxn.2_Silent_p.S8S|C18orf34_uc010dmf.1_Silent_p.S8S|C18orf34_uc002kxo.2_Silent_p.S8S|C18orf34_uc002kxp.3_Silent_p.S8S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	8								p.S8S(2)|p.V7F(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TGGAAGAAGAGGAAACTGTCT	0.229000														23			10		0	0	0.00136819	0	0
KAT6A	7994	broad.mit.edu	37	8	41834788	41834788	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:41834788T>A	uc010lxb.3	-	7	1645	c.1101A>T	c.(1099-1101)aaA>aaT	p.K367N	KAT6A_uc010lxc.3_Missense_Mutation_p.K367N|KAT6A_uc003xon.4_Missense_Mutation_p.K367N|KAT6A_uc010lxd.3_Missense_Mutation_p.K367N	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	367	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										AAAGAGTGATTTTTCGTTTCC	0.413000														61			20		0	0	0.00188189	0	0
DAB2	1601	broad.mit.edu	37	5	39381617	39381617	+	Silent	SNP	G	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:39381617G>C	uc003jlx.3	-	10	1974	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P	DAB2_uc003jlw.3_Silent_p.P460P	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	481					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCAGAGGGTTGGGCTGCAGGG	0.537000														96			28		0	0	0.00209593	0	0
EPB41L2	2037	broad.mit.edu	37	6	131276354	131276354	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:131276354G>A	uc003qch.2	-	2	778	c.596C>T	c.(595-597)aCc>aTc	p.T199I	EPB41L2_uc010kfl.2_Missense_Mutation_p.T199I|EPB41L2_uc003qcg.1_Missense_Mutation_p.T199I|EPB41L2_uc003qci.3_Missense_Mutation_p.T199I|EPB41L2_uc011eby.2_Missense_Mutation_p.T199I|EPB41L2_uc010kfk.2_Missense_Mutation_p.T199I	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	199					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.Q198*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGCTCATTGGTCTGCACTTC	0.433000														112			43		0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38938447	38938447	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:38938447G>A	uc021wvy.1	-	13	2491	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	764					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R763H(3)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCCCGCAGAGGATGCGGAATA	0.473000														32			10		0	0	0.000673444	0	0
LRP5	4041	broad.mit.edu	37	11	68153959	68153959	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:68153959C>T	uc001ont.3	+	5	1266	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	397	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCGGGCCATCCGCAGGGCGT	0.637000														44			8		0	0	0.00307968	0	0
NID1	4811	broad.mit.edu	37	1	236175286	236175286	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:236175286G>A	uc001hxo.3	-	11	2564	c.2462C>T	c.(2461-2463)cCa>cTa	p.P821L	NID1_uc009xgd.3_Intron|NID1_uc009xgc.3_5'UTR	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	821	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAAAGAGCCTGGAGTGTTGTA	0.552000														45			20		0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179583666	179583666	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:179583666C>T	uc021vsy.1	-	80	20754	c.20529G>A	c.(20527-20529)gtG>gtA	p.V6843V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3504V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7770	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAACTTCCACAGAATCAG	0.473000														14			4		0	0	0.00024832	0	0
CYLC1	1538	broad.mit.edu	37	X	83128074	83128074	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:83128074G>A	uc004eei.1	+	3	379	c.358G>A	c.(358-360)Gat>Aat	p.D120N	CYLC1_uc004eeh.1_Missense_Mutation_p.D119N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	120					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAGTCCAAAGATGAAAAAGG	0.368000														11			15		0	0	0.00244969	0	0
OSBPL7	114881	broad.mit.edu	37	17	45892672	45892672	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:45892672G>A	uc002ilx.1	-	12	1369	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	389					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTGGTCTGCGATAGCTGGGG	0.607000														11			6		0	0	0.000274275	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245608	137245608	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:137245608G>A	uc003qhe.3	+	1	1190	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	342					carbohydrate transport	integral to membrane		p.G342E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGGGAGGGAGGAAATGGCCGG	0.687000														18			6		0	0	0.00116845	0	0
F2	2147	broad.mit.edu	37	11	46750326	46750326	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:46750326C>T	uc001ndf.4	+	10	1454	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	471	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.P471S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGAAGAAGCCTGTTGCCTT	0.547000														60			12		0	0	0.00185496	0	0
ELP3	55140	broad.mit.edu	37	8	27957418	27957418	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:27957418C>T	uc003xgo.4	+	2	341	c.193C>T	c.(193-195)Cct>Tct	p.P65S	ELP3_uc003xgn.4_Missense_Mutation_p.P50S|ELP3_uc011las.2_5'UTR|ELP3_uc011lat.2_Intron|ELP3_uc011laq.2_5'UTR|ELP3_uc011lar.2_Intron	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	65					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TGCTGCCGTCCCTCCTCAGTA	0.502000														56			22		0	0	0.00047179	0	0
OR1C1	26188	broad.mit.edu	37	1	247921054	247921054	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:247921054C>T	uc010pza.2	-	0	655	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G219*(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGATAAGTCCATAAGATACG	0.483000														29			27		0	0	0.00209593	0	0
HRH4	59340	broad.mit.edu	37	18	22056862	22056862	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:22056862C>T	uc002kvi.3	+	2	609	c.509C>T	c.(508-510)tCg>tTg	p.S170L	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.S82L	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	170						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	GGATTTTTTTCGGAATGGTAC	0.433000														93			33		0	0	0.000692331	0	0
BMP3	651	broad.mit.edu	37	4	81966994	81966994	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:81966994G>A	uc003hmg.4	+	1	739	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	140					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGAGAGCTAGGAAACATCAGC	0.428000														71			24		0	0	0.00278032	0	0
FGR	2268	broad.mit.edu	37	1	27939754	27939754	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:27939754T>G	uc001boj.3	-	9	1503	c.1357A>C	c.(1357-1359)Acc>Ccc	p.T453P	FGR_uc001boi.3_Missense_Mutation_p.T156P|FGR_uc001bok.3_Missense_Mutation_p.T453P|FGR_uc001bol.3_Missense_Mutation_p.T453P|FGR_uc001bom.3_Missense_Mutation_p.T453P	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	453	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCCTTGGTGATGAGCTCA	0.602000														50			16		0	0	0.000566183	0	0
C1orf112	55732	broad.mit.edu	37	1	169790881	169790881	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:169790881C>T	uc001ggq.3	+	8	1464	c.764C>T	c.(763-765)tCc>tTc	p.S255F	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.S255F|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Missense_Mutation_p.S226F|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.3_Missense_Mutation_p.S120F|C1orf112_uc010plv.2_Missense_Mutation_p.S197F	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	255										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTGCCAACTCCCTTTTgcac	0.318000														42			21		0	0	0.00188189	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061445	13061445	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:13061445G>A	uc001rba.3	+	1	912	c.262G>A	c.(262-264)Gga>Aga	p.G88R		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	88						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CTTCATCATCGGACTGGACGG	0.552000														134			54		0	0	0.000781405	0	0
HVCN1	84329	broad.mit.edu	37	12	111089247	111089247	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:111089247G>A	uc001trs.1	-	5	583	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	HVCN1_uc001trq.1_Missense_Mutation_p.H140Y|HVCN1_uc001trt.1_Missense_Mutation_p.H140Y|HVCN1_uc010syd.1_Missense_Mutation_p.H120Y	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	140					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CTCATGTAGTGGAATACCTGA	0.478000														15			10		0	0	0.000442599	0	0
RAB4B	53916	broad.mit.edu	37	19	41289901	41289901	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:41289901C>T	uc002opd.2	+	4	508	c.351C>T	c.(349-351)atC>atT	p.I117I	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Silent_p.I143I	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	117					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCGTGGTCATCCTCTGTGGCA	0.627000														28			5		0	0	0.00116845	0	0
C6orf165	154313	broad.mit.edu	37	6	88119576	88119576	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:88119576G>A	uc003plv.3	+	1	142	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	C6orf165_uc003plu.2_Missense_Mutation_p.E7K|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	7										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AACTCAGGCCGAAAGTGTTAT	0.333000														58			21		0	0	0.00229938	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26669304	26669304	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:26669304G>A	uc002hax.2	+	5	569	c.550G>A	c.(550-552)Gag>Aag	p.E184K	TNFAIP1_uc002hay.3_Missense_Mutation_p.E184K|TNFAIP1_uc010waf.2_Missense_Mutation_p.E80K	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	184					DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	p.E184K(2)|p.I183I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAAAACATCGAGCTGTTTGA	0.542000														19			11		0	0	0.00244969	0	0
ASTN2	23245	broad.mit.edu	37	9	119188211	119188211	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:119188211G>A	uc004bjt.2	-	21	3887	c.3786C>T	c.(3784-3786)atC>atT	p.I1262I	ASTN2_uc022bml.1_Silent_p.I958I|ASTN2_uc022bmm.1_Silent_p.I962I|ASTN2_uc004bjp.2_Silent_p.I414I|ASTN2_uc011lxr.2_Silent_p.I365I|ASTN2_uc011lxs.2_Silent_p.I365I|ASTN2_uc011lxt.2_Silent_p.I365I|ASTN2_uc004bjq.2_Silent_p.I365I	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1313						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTCCTTGAGGATGCTATACC	0.592000														16			11		0	0	0.000978159	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728888	15728888	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:15728888G>A	uc002nbi.3	+	2	340	c.276G>A	c.(274-276)ttG>ttA	p.L92L	CYP4F8_uc010xoi.1_Silent_p.L92L|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	92					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						TGAGGTGGTTGGGCCCCATCA	0.597000														61			11		0	0	0.00185496	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913245	77913245	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:77913245G>A	uc022bzi.1	-	0	673	c.673C>T	c.(673-675)Cca>Tca	p.P225S	ZCCHC5_uc004edc.1_Missense_Mutation_p.P225S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	225							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCCTGTGGAAACTCTGAA	0.507000														22			11		0	0	0.00136819	0	0
EPHB6	2051	broad.mit.edu	37	7	142564278	142564278	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:142564278C>T	uc011kst.2	+	9	2289	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	EPHB6_uc011ksu.2_Missense_Mutation_p.S501F|EPHB6_uc003wbs.3_Missense_Mutation_p.S209F|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.S209F|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	501	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGCCGGGCATCCAACAGCATC	0.587000														25			30		0	0	0.00178596	0	0
TADA3	10474	broad.mit.edu	37	3	9827025	9827025	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:9827025G>A	uc003bsx.1	-	6	1443	c.895C>T	c.(895-897)Cct>Tct	p.P299S	TADA3_uc010hcn.1_Missense_Mutation_p.P299S|TADA3_uc003bsy.3_Missense_Mutation_p.P299S|TADA3_uc003bsw.1_Missense_Mutation_p.P128S	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	299					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TGATTGCGAGGGGAGGTGCTT	0.517000														39			19		0	0	0.00229938	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069279	6069279	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:6069279G>A	uc010ndi.3	-	1	693	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	NLGN4X_uc004crp.3_Missense_Mutation_p.P77S|NLGN4X_uc010ndh.3_Missense_Mutation_p.P77S|NLGN4X_uc004crq.3_Missense_Mutation_p.P77S|NLGN4X_uc004crr.3_Missense_Mutation_p.P77S|NLGN4X_uc010ndj.3_Missense_Mutation_p.P77S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	77					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GAGGCATAGGGGACCCCTAAG	0.542000														45			18		0	0	0.00074312	0	0
VWF	7450	broad.mit.edu	37	12	6103617	6103617	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:6103617G>A	uc001qnn.1	-	35	6470	c.6220C>T	c.(6220-6222)Ccc>Tcc	p.P2074S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2074	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.P2074S(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAAGTCTTGGGGCTGAGCTGC	0.428000														112			39		0	0	0.00222228	0	0
PREX2	80243	broad.mit.edu	37	8	69129915	69129915	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:69129915C>T	uc003xxv.1	+	37	4696	c.4669C>T	c.(4669-4671)Cgt>Tgt	p.R1557C		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1557					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R1557C(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACTGCCACCTCGTTACATCAT	0.552000														17			9		0	0	0.000673444	0	0
ADAM9	8754	broad.mit.edu	37	8	38865485	38865485	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:38865485A>T	uc003xmr.3	+	1	256	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript|ADAM9_uc003xmp.3_Missense_Mutation_p.R60W	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	60				Missing (in Ref. 2; no nucleotide entry).	PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGAAGCCCCTAGGCCCTATTC	0.328000														45			14		0	0	0.00244969	0	0
CD180	4064	broad.mit.edu	37	5	66479863	66479863	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:66479863C>T	uc003juy.2	-	2	956	c.808G>A	c.(808-810)Gga>Aga	p.G270R		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	270					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCACAGAGTCCCTTGAGCATG	0.453000														19			14		0	0	0.000566183	0	0
TRPC5	7224	broad.mit.edu	37	X	111090377	111090377	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:111090377C>T	uc004epl.1	-	5	2584	c.1665G>A	c.(1663-1665)ggG>ggA	p.G555G	TRPC5_uc004epm.1_Silent_p.G555G	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	555					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.K554N(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACATCGGATCCCCTTGCAGT	0.403000														129			51		0	0	0.000781405	0	0
BAIAP3	8938	broad.mit.edu	37	16	1395287	1395287	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:1395287C>T	uc002clk.2	+	21	2241	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	BAIAP3_uc010uuz.2_Missense_Mutation_p.P660S|BAIAP3_uc010uva.2_Missense_Mutation_p.P632S|BAIAP3_uc021tag.1_Missense_Mutation_p.P637S|BAIAP3_uc002clj.3_Missense_Mutation_p.P677S|BAIAP3_uc010uvc.1_Missense_Mutation_p.P624S	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	695	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.A694T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CATCCACGCCCCCTTCCTGCC	0.642000														52			19		0	0	0.000958276	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427199	71427199	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:71427199C>T	uc004eaq.1	-	1	1515	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.R350Q	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	473	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCCCTCATCTCGCAGCCTCTT	0.398000														55			12		0	0	0.00244969	0	0
MYO5A	4644	broad.mit.edu	37	15	52681452	52681452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:52681452G>A	uc002aby.2	-	12	1895	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	MYO5A_uc002abx.3_Nonsense_Mutation_p.Q551*|MYO5A_uc010uge.1_Nonsense_Mutation_p.Q420*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	551	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCAAAATGTTGGATGATGAAA	0.353000														41			9		0	0	0.000673444	0	0
COL4A5	1287	broad.mit.edu	37	X	107846280	107846280	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:107846280C>T	uc022ccg.1	+	27	2435	c.2233C>T	c.(2233-2235)Cca>Tca	p.P745S	COL4A5_uc004enz.1_Missense_Mutation_p.P745S|COL4A5_uc004eob.1_Missense_Mutation_p.P353S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	745	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACCCGGCTTTCCAGGACCAAA	0.458000									Alport syndrome with Diffuse Leiomyomatosis					8			4		0	0	0.00024832	0	0
TRMT5	57570	broad.mit.edu	37	14	61446310	61446310	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:61446310C>T	uc001xff.4	-	1	397	c.306G>A	c.(304-306)agG>agA	p.R102R	SLC38A6_uc001xfg.2_5'Flank|SLC38A6_uc001xfh.2_5'Flank|SLC38A6_uc001xfi.3_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.3_5'Flank|SLC38A6_uc010trz.2_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	102						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CTATTTCTTTCCTCACTTTAA	0.408000														68			36		0	0	0.000692331	0	0
WFDC8	90199	broad.mit.edu	37	20	44181906	44181906	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:44181906C>T	uc002xow.3	-	4	534	c.455G>A	c.(454-456)gGa>gAa	p.G152E	WFDC8_uc002xox.3_Missense_Mutation_p.G152E	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	152	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TGGGCATTGTCCATCCTTAAC	0.468000														31			9		0	0	0.000673444	0	0
ABCA13	154664	broad.mit.edu	37	7	48269475	48269475	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:48269475C>T	uc003toq.2	+	6	710	c.686C>T	c.(685-687)tCc>tTc	p.S229F	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	229					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAACTTTTTCCCAGGTTTCT	0.408000														175			49		0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7531810	7531810	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:7531810C>T	uc010sge.2	-	8	2191	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	CD163L1_uc001qsy.3_Missense_Mutation_p.G712E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	712	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACACAGAATTCCCACGGCACC	0.502000														49			27		0	0	0.00106085	0	0
DNAH8	1769	broad.mit.edu	37	6	38825330	38825330	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:38825330G>A	uc021yzh.1	+	41	5879	c.5770G>A	c.(5770-5772)Gat>Aat	p.D1924N	DNAH8_uc003ooe.2_Missense_Mutation_p.D1707N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGGACACACGATTCAGAAGA	0.343000														52			15		0	0	0.000308642	0	0
RFX2	5990	broad.mit.edu	37	19	6040210	6040210	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:6040210G>A	uc002meb.3	-	4	572	c.303C>T	c.(301-303)gcC>gcT	p.A101A	RFX2_uc002mec.3_Silent_p.A101A|RFX2_uc010xiy.1_Silent_p.A56A	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTGCTGGGGGCGTACATCT	0.612000														81			29		0	0	0.00178596	0	0
C9orf80	58493	broad.mit.edu	37	9	115456459	115456459	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:115456459C>G	uc004bgg.3	-	2	257	c.80G>C	c.(79-81)aGa>aCa	p.R27T	C9orf80_uc010muk.3_Non-coding_Transcript	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	27					DNA repair|response to ionizing radiation	SOSS complex	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						AAGTAGTTTTCTTTTCTCTTT	0.343000														63			27		0	0	0.00283554	0	0
OR2G3	81469	broad.mit.edu	37	1	247769793	247769793	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:247769793G>A	uc010pyz.2	+	0	906	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGCTCTGAGGAAACTTCTCT	0.393000														62			34		0	0	0.000953801	0	0
CDC37L1	55664	broad.mit.edu	37	9	4697137	4697137	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:4697137G>C	uc003zio.3	+	3	752	c.550G>C	c.(550-552)Gac>Cac	p.D184H		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	184	Self-association and interaction with Hsp90.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATTTTTGTCTGACCATCCATA	0.348000														55			10		0	0	0.000978159	0	0
TMEM201	199953	broad.mit.edu	37	1	9657101	9657101	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:9657101C>T	uc021ofy.1	+	2	476	c.419C>T	c.(418-420)cCc>cTc	p.P140L	TMEM201_uc001apy.3_Missense_Mutation_p.P140L|TMEM201_uc021ofz.1_5'UTR	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	140						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCTTCGCTCCCCGCGAGGAG	0.672000														22			16		0	0	0.00229938	0	0
NRXN3	9369	broad.mit.edu	37	14	79432748	79432748	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:79432748G>A	uc001xun.3	+	9	2149	c.1658_splice	c.e9+1	p.G553_splice	NRXN3_uc001xum.1_Splice_Site|NRXN3_uc010asv.1_Splice_Site_p.G678_splice	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	146					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTTGTCAAGGGGTAAGTAGA	0.418000														48			28		0	0	0.00283554	0	0
MUC16	94025	broad.mit.edu	37	19	9047932	9047932	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:9047932C>T	uc002mkp.3	-	4	33903	c.33699G>A	c.(33697-33699)gaG>gaA	p.E11233E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11235	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTATGGTCTCTGGTTGAC	0.483000														20			10		0	0	0.000442599	0	0
PAK6	56924	broad.mit.edu	37	15	40557141	40557141	+	Missense_Mutation	SNP	C	T	T	rs146905959		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:40557141C>T	uc010bbl.3	+	3	595	c.155C>T	c.(154-156)cCc>cTc	p.P52L	PAK6_uc010bbm.3_Missense_Mutation_p.P52L|PAK6_uc001zky.4_Missense_Mutation_p.P52L|PAK6_uc010bbn.3_Missense_Mutation_p.P52L|PAK6_uc001zlb.3_Missense_Mutation_p.P52L	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	52	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.P52L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGCCCCAAGCCCGTGGTGGAC	0.617000														40			19		0	0	0.00188189	0	0
GANC	2595	broad.mit.edu	37	15	42619626	42619626	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:42619626T>A	uc001zpi.3	+	12	1800	c.1486T>A	c.(1486-1488)Ttc>Atc	p.F496I		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	496					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	p.A495V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCTTTTTGCTTTCCCTGTTTA	0.383000														127			46		0	0	0.000781405	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67059550	67059550	+	Silent	SNP	A	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:67059550A>T	uc001okd.2	+	5	800	c.630A>T	c.(628-630)acA>acT	p.T210T	ANKRD13D_uc001okc.2_Silent_p.T123T|ANKRD13D_uc001oke.2_Silent_p.T123T	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA.	123										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCCCGAAACACTGCTGGCCG	0.637000														41			17		0	0	0.00074312	0	0
KCND3	3752	broad.mit.edu	37	1	112329723	112329723	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:112329723C>T	uc001ebu.1	-	2	1592	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	KCND3_uc001ebv.1_Missense_Mutation_p.G371E	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	371						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CACCATGTCTCCGTATCTGAG	0.522000														51			16		0	0	0.00074312	0	0
POTEF	728378	broad.mit.edu	37	2	130869581	130869581	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:130869581C>T	uc010fmh.2	-	5	1304	c.904G>A	c.(904-906)Gat>Aat	p.D302N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	302						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCATATCTATCCAGTGCATTT	0.323000														34			25		0	0	0.00278032	0	0
CRP	1401	broad.mit.edu	37	1	159683618	159683618	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:159683618G>A	uc001ftw.3	-	1	476	c.372C>T	c.(370-372)atC>atT	p.I124I	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	124	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAACTCCACGATCCCTGAGG	0.522000														113			117		0	0	0.000781405	0	0
HTR4	3360	broad.mit.edu	37	5	147929700	147929700	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:147929700C>T	uc021yfj.1	-	2	199	c.152_splice	c.e2+1	p.R51_splice	HTR4_uc021yfg.1_Splice_Site_p.R51_splice|HTR4_uc021yfh.1_Splice_Site_p.R51_splice|HTR4_uc010jgu.1_Splice_Site|HTR4_uc021yfi.1_Splice_Site_p.R51_splice|HTR4_uc011dby.1_Splice_Site_p.R51_splice|HTR4_uc003lpn.3_Splice_Site_p.R51_splice|HTR4_uc010jgv.3_Splice_Site|HTR4_uc021yfk.1_Splice_Site_p.R51_splice|SH3TC2_uc003lpp.1_Splice_Site	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	51					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGCTGCTCACCTGAGCTGCCT	0.502000														12			12		0	0	0.00136819	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784766	140784766	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:140784766C>T	uc003lkh.2	+	0	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.F749F	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGAGCTTTCCTACAGACCT	0.567000														27			37		0	0	0.000692331	0	0
OR4E2	26686	broad.mit.edu	37	14	22134212	22134212	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:22134212G>A	uc010tmd.2	+	0	916	c.916G>A	c.(916-918)Gtt>Att	p.V306I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCAGAGACAAGTTTTTTTCAC	0.408000														8			5		0	0	0.000602214	0	0
ATP10D	57205	broad.mit.edu	37	4	47514588	47514588	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:47514588C>T	uc003gxk.1	+	1	195	c.31C>T	c.(31-33)Cac>Tac	p.H11Y	ATP10D_uc003gxj.3_Missense_Mutation_p.H11Y	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	11					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGCCAGATATCACTGGCGACG	0.522000														53			29		0	0	0.00283554	0	0
WIZ	58525	broad.mit.edu	37	19	15538022	15538022	+	Silent	SNP	T	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:15538022T>G	uc002nbc.3	-	3	1397	c.1374A>C	c.(1372-1374)ccA>ccC	p.P458P	WIZ_uc002nba.4_Silent_p.P325P|WIZ_uc002nbb.4_Silent_p.P284P	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1141						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCGGTGGTGGTGGCAACTTCT	0.652000														45			9		0	0	0.000978159	0	0
LOC442459	442459	broad.mit.edu	37	X	98975038	98975038	+	RNA	SNP	C	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:98975038C>A	uc011mrd.1	-	7		c.1305G>T								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GTTGAACTCCCATTCACCGGC	0.517000														17			7		0.00198382	0.00647981	0.00198382	1	0
GFPT1	2673	broad.mit.edu	37	2	69556548	69556550	+	Missense_Mutation	DNP	TA	AT	AT			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:69556548_69556550TA>AT	uc002sfi.2	-	16	1787_1789	c.1604_1606TA>AT	c.(1603-1608)attaag>aATag	p.535_536IK>N	GFPT1_uc002sfh.3_Missense_Mutation_p.517_518IK>N	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	535					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGTACTTCCTTAATCAAATCTAA	0.325000														15			8		0	0	6.4e-05	0	0
C19orf21	126353	broad.mit.edu	37	19	758513	758513	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:758513C>T	uc002lpo.3	+	1	1650	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	523										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCAAGTCCCCCATGTCTG	0.667000														32			12		0	0	0.00136819	0	0
WDR78	79819	broad.mit.edu	37	1	67301341	67301341	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:67301341C>T	uc001dcx.3	-	10	1757	c.1701G>A	c.(1699-1701)cgG>cgA	p.R567R	WDR78_uc009waw.3_Silent_p.R313R|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	567										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TACTGTTGCTCCGTACATTGT	0.368000														54			23		0	0	0.00278032	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645802	20645802	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:20645802G>A	uc001ytg.3	-	19	2983	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.S758S|HERC2P3_uc010tyy.2_Silent_p.S758S					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											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						TCCACTGCAGGGAGCTGAGGG	0.617000														11			6		0	0	0.00116845	0	0
NPR2	4882	broad.mit.edu	37	9	35800423	35800423	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:35800423C>T	uc003zyd.3	+	4	1161	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	NPR2_uc010mlb.3_Silent_p.D387D	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	387					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGAACAATGACCGAGAGACTG	0.527000														89			14		0	0	0.000308642	0	0
OR52D1	390066	broad.mit.edu	37	11	5510608	5510608	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:5510608C>T	uc010qzg.2	+	0	694	c.672C>T	c.(670-672)atC>atT	p.I224I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I224T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCTTTATCCTCCATGCAG	0.488000														138			26		0	0	0.00127121	0	0
F8	2157	broad.mit.edu	37	X	154159922	154159922	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:154159922C>T	uc004fmt.3	-	13	2314	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	715	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCGAAAGTCTGAGTTGTGG	0.423000														44			23		0	0	0.000586117	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780325	68780325	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:68780325C>T	uc003hdr.1	-	8	1206	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G359E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	362	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATCATAAATTCCTTCCATATA	0.358000														68			44		0	0	0.000781405	0	0
LTBP1	4052	broad.mit.edu	37	2	33500129	33500129	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:33500129G>A	uc021vft.1	+	16	2864	c.2841G>A	c.(2839-2841)atG>atA	p.M947I	LTBP1_uc002rou.3_Missense_Mutation_p.M621I|LTBP1_uc002rov.3_Missense_Mutation_p.M568I|LTBP1_uc010ymz.2_Missense_Mutation_p.M621I|LTBP1_uc010yna.2_Missense_Mutation_p.M568I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	947	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGATTTATGGCCAGTGAGG	0.463000														50			19		0	0	0.00229938	0	0
DNAH10	196385	broad.mit.edu	37	12	124403268	124403268	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:124403268G>A	uc001uft.4	+	63	10949	c.10924G>A	c.(10924-10926)Gac>Aac	p.D3642N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3642					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGGACATCGACAGGCTGCG	0.577000														19			9		0	0	0.000673444	0	0
TMED1	11018	broad.mit.edu	37	19	10943869	10943869	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:10943869C>T	uc002mpy.3	-	3	602	c.486G>A	c.(484-486)cgG>cgA	p.R162R	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 1 (TMED1), mRNA.	162					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CCAGCCGGGTCCGCATGGTCT	0.627000														7			6		0	0	0.00116845	0	0
LAMA2	3908	broad.mit.edu	37	6	129837450	129837450	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:129837450G>A	uc021zfb.1	+	64	9432	c.9327G>A	c.(9325-9327)ctG>ctA	p.L3109L	LAMA2_uc003qbn.3_Silent_p.L3107L|LAMA2_uc003qbo.3_Silent_p.L3103L|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	3109	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAAGGCCCTGGAACTGAGGG	0.463000														39			20		0	0	0.00121646	0	0
WDR90	197335	broad.mit.edu	37	16	706315	706315	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:706315C>T	uc002cii.1	+	17	2034	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P	WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.P187P|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	660										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGAGGGCCCCGTCAGCTCAG	0.697000														16			5		0	0	0.00116845	0	0
ZNF812	729648	broad.mit.edu	37	19	9801338	9801338	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:9801338C>T	uc021uop.1	-	5	1487	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ZNF812_uc010xkx.2_Missense_Mutation_p.E177K	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCCCACATTCCGTATATTTG	0.378000														46			12		0	0	0.00136819	0	0
FAM123C	205147	broad.mit.edu	37	2	131520521	131520521	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:131520521G>A	uc021voy.1	+	0	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V	FAM123C_uc002trw.2_Silent_p.V292V|FAM123C_uc010fmv.2_Silent_p.V292V|FAM123C_uc010fms.1_Silent_p.V292V|FAM123C_uc010fmt.1_Silent_p.V292V|FAM123C_uc010fmu.1_Silent_p.V292V	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	292										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGGCAGTGTGGAGCAGCTGG	0.652000														45			9		0	0	0.000442599	0	0
SALL1	6299	broad.mit.edu	37	16	51172871	51172871	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:51172871C>T	uc021tif.1	-	1	3293	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	SALL1_uc021tid.1_Missense_Mutation_p.E991K|SALL1_uc021tie.1_Missense_Mutation_p.E1088K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1088					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCGTTGACCTCTGTCTTGATG	0.562000														47			23		0	0	0.00278032	0	0
COL2A1	1280	broad.mit.edu	37	12	48376908	48376908	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:48376908C>T	uc001rqu.3	-	31	2243	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.E619K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	688	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCTCCAGCTTCACCGGGAACA	0.577000														7			4		0	0	0.00024832	0	0
SIDT1	54847	broad.mit.edu	37	3	113300282	113300282	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:113300282C>T	uc021xcn.1	+	5	1389	c.738C>T	c.(736-738)atC>atT	p.I246I	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.I246I|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	246						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AAGCTGCCATCACGCTACAGG	0.468000														35			22		0	0	0.00229938	0	0
OR6S1	341799	broad.mit.edu	37	14	21109838	21109838	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr14:21109838C>A	uc001vxv.1	-	0	13	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGTGGTTCCCATCAGGACTC	0.438000														70			5		0.00198382	0.00647981	0.00198382	1	0
CLEC5A	23601	broad.mit.edu	37	7	141643748	141643748	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:141643748C>T	uc003vwv.1	-	3	353	c.156G>A	c.(154-156)ggG>ggA	p.G52G	CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Silent_p.G52G|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	52					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.G52W(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGGAACTGCTCCCAAAAATCT	0.438000														92			72		0	0	0.000781405	0	0
ABCB5	340273	broad.mit.edu	37	7	20767987	20767987	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:20767987C>T	uc010kuh.3	+	22	3013	c.2776C>T	c.(2776-2778)Cat>Tat	p.H926Y	ABCB5_uc003suw.4_Missense_Mutation_p.H481Y|ABCB5_uc003sux.1_Missense_Mutation_p.H104Y	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	481					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGCATTCAGCCATGCCTTTAT	0.403000														105			35		0	0	0.000692331	0	0
CLSPN	63967	broad.mit.edu	37	1	36230223	36230223	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:36230223G>A	uc001bzi.3	-	2	306	c.226C>T	c.(226-228)Cca>Tca	p.P76S	CLSPN_uc009vux.3_Missense_Mutation_p.P76S	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	76					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTTCTCTGGAGAGGCATTT	0.373000														44			14		0	0	0.000566183	0	0
ATP7A	538	broad.mit.edu	37	X	77245370	77245370	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:77245370A>C	uc004ecx.4	+	3	1412	c.1252A>C	c.(1252-1254)Act>Cct	p.T418P	ATP7A_uc004ecw.2_Missense_Mutation_p.T418P	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	418	HMA 4.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TAGCAATGGGACTGTTGAGTA	0.408000														93			20		0	0	0.00152264	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701860	74701860	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:74701860G>A	uc001dge.2	+	3	485	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.E140K|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E140K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E39K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	39						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GCAGATCAAGGAAAAAGAACT	0.299000														77			37		0	0	0.00128727	0	0
MST1P9	11223	broad.mit.edu	37	1	17087458	17087458	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:17087458C>T	uc010ock.2	-	1	207	c.207G>A	c.(205-207)atG>atA	p.M69I	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCAGCAGTCCATTAAGGGCC	0.627000														125			7		0	0	0.000274275	0	0
NIPBL	25836	broad.mit.edu	37	5	37052538	37052538	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:37052538C>T	uc003jkl.4	+	41	7632	c.7133C>T	c.(7132-7134)cCt>cTt	p.P2378L	NIPBL_uc003jkk.4_Missense_Mutation_p.P2378L|NIPBL_uc003jkn.3_Missense_Mutation_p.P71L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2378					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTAAAAGATCCTGTAAGGGGT	0.433000														39			18		0	0	0.00074312	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310792	75310792	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:75310792G>A	uc002azn.2	+	5	640	c.453G>A	c.(451-453)acG>acA	p.T151T	SCAMP5_uc002azl.2_Silent_p.T143T|SCAMP5_uc002azm.2_Silent_p.T143T|SCAMP5_uc002azk.2_Silent_p.T143T|SCAMP5_uc010uly.2_Silent_p.T72T	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	143					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTTCGGAACGAACATTGGCT	0.592000														127			54		0	0	0.000781405	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535870	69535870	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:69535870G>A	uc021xow.1	-	0	625	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	156					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CTCACCACAGGGATTAAGGGC	0.393000														244			92		0	0	0.000781405	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955401	18955401	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:18955401C>T	uc001mpg.3	-	0	1149	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	311				EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCAGGATTTCCTCAGGAAGC	0.567000														50			9		0	0	0.000274275	0	0
ALAS2	212	broad.mit.edu	37	X	55043923	55043923	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:55043923C>T	uc004dua.4	-	6	1137	c.999G>A	c.(997-999)atG>atA	p.M333I	ALAS2_uc004dub.4_Missense_Mutation_p.M320I|ALAS2_uc004dud.4_Missense_Mutation_p.M296I	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	333					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ACATACCATCCATGGAGTGGA	0.393000														70			34		0	0	0.000692331	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				20			8		0	0	0.000442599	0	0
NAB1	4664	broad.mit.edu	37	2	191524549	191524549	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:191524549A>G	uc002usb.3	+	3	1219	c.647A>G	c.(646-648)aAt>aGt	p.N216S	NAB1_uc010fsc.3_Missense_Mutation_p.N216S|NAB1_uc010fsd.3_Missense_Mutation_p.N216S|NAB1_uc002usc.3_Missense_Mutation_p.N216S|NAB1_uc010zgh.2_Missense_Mutation_p.N216S	NM_005966	NP_005957	Q13506	NAB1_HUMAN	Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.	216					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AGTGACTTGAATGAAGTGAAA	0.493000														33			8		0	0	0.000442599	0	0
TUBB2A	7280	broad.mit.edu	37	6	3155866	3155866	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:3155866G>A	uc003mvc.3	-	2	356	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TUBB2A_uc003mvb.3_Silent_p.F83F	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	Homo sapiens tubulin, beta 2A class IIa (TUBB2A), mRNA.	90					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACCGAACACGAAGTTGTCTG	0.517000														32			10		0	0	0.00136819	0	0
GRIA4	2893	broad.mit.edu	37	11	105483100	105483100	+	Silent	SNP	T	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:105483100T>C	uc001pix.2	+	2	632	c.186T>C	c.(184-186)ttT>ttC	p.F62F	GRIA4_uc001piu.1_Silent_p.F62F|GRIA4_uc001piw.2_Silent_p.F62F|GRIA4_uc001piv.3_Silent_p.F62F|GRIA4_uc009yxk.1_Silent_p.F62F|GRIA4_uc001pit.3_Silent_p.F62F	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	62					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.P61A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAGCTCCTTTTAATTTGGTAC	0.398000														47			31		0	0	0.000814825	0	0
IL21	59067	broad.mit.edu	37	4	123542116	123542116	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:123542116G>A	uc003ies.2	-	0	96	c.51C>T	c.(49-51)gtC>gtT	p.V17V	BC045668_uc003iet.3_Non-coding_Transcript|IL21_uc010int.3_Silent_p.V17V	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	10					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						CCAAGAAGATGACCATCAGAC	0.443000														52			27		0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179584546	179584546	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:179584546G>A	uc021vsy.1	-	78	20166	c.19941C>T	c.(19939-19941)atC>atT	p.I6647I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I3308I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7574	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTCTATGATTCTTGCTG	0.393000														24			9		0	0	0.000274275	0	0
FOXF1	2294	broad.mit.edu	37	16	86544358	86544358	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:86544358C>T	uc002fjl.3	+	0	226	c.183C>T	c.(181-183)atC>atT	p.I61I	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	61					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TCATGGCCATCCAGAGTTCAC	0.642000														28			12		0	0	0.00185496	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361437	83361437	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:83361437A>G	uc004eej.2	-	14	1337	c.1301T>C	c.(1300-1302)gTt>gCt	p.V434A	RPS6KA6_uc011mqt.2_Missense_Mutation_p.V434A|RPS6KA6_uc011mqu.2_Missense_Mutation_p.V331A	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	434	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTAGGAGCCAACACCAATATC	0.348000														11			4		0	0	0.00024832	0	0
CALD1	800	broad.mit.edu	37	7	134625906	134625906	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:134625906C>T	uc003vrz.3	+	6	1916	c.1450C>T	c.(1450-1452)Cga>Tga	p.R484*	CALD1_uc003vry.3_Nonsense_Mutation_p.R229*|CALD1_uc003vsb.3_Nonsense_Mutation_p.R229*|CALD1_uc011kpt.2_Nonsense_Mutation_p.R3*|CALD1_uc010lmm.3_Nonsense_Mutation_p.R255*|CALD1_uc003vsc.3_Nonsense_Mutation_p.R249*|CALD1_uc003vsd.3_Nonsense_Mutation_p.R223*|CALD1_uc011kpu.2_Nonsense_Mutation_p.R234*|CALD1_uc011kpv.2_Nonsense_Mutation_p.R93*|CALD1_uc003vse.3_Nonsense_Mutation_p.R348*	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	484					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.R484G(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CTTCATGGATCGAAAGAAGGG	0.358000														46			20		0	0	0.00152264	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564867	47564867	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:47564867C>T	uc001cqu.1	+	7	981	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	326						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCTCCTGGATCCTTTACTGCT	0.478000														35			22		0	0	0.00229938	0	0
TMEM37	140738	broad.mit.edu	37	2	120194514	120194514	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:120194514C>T	uc002tly.3	+	1	105	c.71C>T	c.(70-72)tCc>tTc	p.S24F		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	24						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TTCTTTGAATCCTTCATCCGG	0.627000														47			28		0	0	0.00106085	0	0
AIFM1	9131	broad.mit.edu	37	X	129263945	129263945	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:129263945C>T	uc004evg.3	-	15	2001	c.1770_splice	c.e15+1	p.K590_splice	AIFM1_uc011mur.2_Splice_Site_p.K238_splice|AIFM1_uc011mus.2_Splice_Site|AIFM1_uc004evh.3_Splice_Site_p.K586_splice|AIFM1_uc004evi.3_Splice_Site_p.K303_splice|AIFM1_uc004evk.3_Splice_Site_p.K238_splice	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	590					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						AGGCACCTACCTTCCTTGCTA	0.502000														89			14		0	0	0.000566183	0	0
LRBA	987	broad.mit.edu	37	4	151388908	151388908	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:151388908G>A	uc010ipj.3	-	44	6974	c.6730C>T	c.(6730-6732)Cca>Tca	p.P2244S	LRBA_uc010ipi.3_5'UTR|LRBA_uc003ils.4_Missense_Mutation_p.P134S|LRBA_uc003ilt.4_Missense_Mutation_p.P892S|LRBA_uc003ilu.4_Missense_Mutation_p.P2233S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2244	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGAAACACTGGATACTGATTT	0.323000														58			19		0	0	0.00188189	0	0
MLL	4297	broad.mit.edu	37	11	118390453	118390453	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:118390453C>T	uc001pta.3	+	31	11281	c.11258C>T	c.(11257-11259)gCc>gTc	p.A3753V	MLL_uc001ptb.3_Missense_Mutation_p.A3756V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3753					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCAGAGGAGGCCAATGAACCC	0.517000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									52			22		0	0	0.00278032	0	0
CDC37L1	55664	broad.mit.edu	37	9	4697103	4697103	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:4697103G>A	uc003zio.3	+	3	718	c.516G>A	c.(514-516)ttG>ttA	p.L172L		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	172	Self-association and interaction with Hsp90.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAGGTATGTTGAGTCGATGGG	0.338000														45			6		0	0	0.00198382	0	0
MALT1	10892	broad.mit.edu	37	18	56390461	56390461	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:56390461C>T	uc002lhm.1	+	9	1458	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	MALT1_uc002lhn.1_Silent_p.L389L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	400	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGTTTTTACTCCTTTTAGACA	0.313000			T	BIRC3	MALT									45			13		0	0	0.00185496	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967966	88967966	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:88967966G>A	uc002fmm.2	-	1	539	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	CBFA2T3_uc002fml.2_Missense_Mutation_p.P23S|CBFA2T3_uc010cif.1_Missense_Mutation_p.P23S|CBFA2T3_uc002fmn.2_Missense_Mutation_p.P84S	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	84	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCGGCAGGCGGTGGGGGCGGC	0.697000			T	RUNX1	AML									26			10		0	0	0.000978159	0	0
C19orf21	126353	broad.mit.edu	37	19	757679	757679	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr19:757679G>A	uc002lpo.3	+	1	816	c.733G>A	c.(733-735)Gtt>Att	p.V245I		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	245										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCACGTGGTTCCCATCAA	0.662000														15			9		0	0	0.000978159	0	0
INPP5J	27124	broad.mit.edu	37	22	31522380	31522380	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr22:31522380G>A	uc003aju.4	+	2	1382	c.1290G>A	c.(1288-1290)tgG>tgA	p.W430*	INPP5J_uc010gwf.3_Nonsense_Mutation_p.W430*|INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Nonsense_Mutation_p.W62*|INPP5J_uc003ajv.4_Nonsense_Mutation_p.W63*|INPP5J_uc003ajs.4_Nonsense_Mutation_p.W63*|INPP5J_uc011alk.2_Nonsense_Mutation_p.W363*|INPP5J_uc010gwg.3_5'UTR	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	430	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGGTCACATGGAACGTGGGCA	0.612000														94			45		0	0	0.000781405	0	0
MYO5B	4645	broad.mit.edu	37	18	47402197	47402197	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr18:47402197C>T	uc002leb.2	-	26	3685	c.3397_splice	c.e26-1	p.E1133_splice	MYO5B_uc002lea.2_Splice_Site_p.E274_splice	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1133					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGCCAATTTCCTTCAAAGGA	0.498000														74			23		0	0	0.000720815	0	0
COL11A1	1301	broad.mit.edu	37	1	103461558	103461558	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:103461558G>A	uc001dum.3	-	26	2636	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P761L|COL11A1_uc001dun.3_Missense_Mutation_p.P722L|COL11A1_uc009weh.3_Missense_Mutation_p.P645L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	761	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACTCCCCGGGGGCCCGGGTA	0.378000														63			31		0	0	0.00058488	0	0
PRKCB	5579	broad.mit.edu	37	16	24231416	24231416	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr16:24231416G>A	uc002dmd.3	+	16	2195	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	PRKCB_uc002dme.3_3'UTR	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	666	AGC-kinase C-terminal.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTAACCCAGAGTTTGTCATTA	0.433000														50			32		0	0	0.00148497	0	0
ZNF215	7762	broad.mit.edu	37	11	6977047	6977047	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:6977047G>A	uc001mey.3	+	6	1427	c.839G>A	c.(838-840)tGg>tAg	p.W280*	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.W42*|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	280					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAGAAAAAATGGGACATAAAT	0.378000														60			37		0	0	0.00111076	0	0
C9orf131	138724	broad.mit.edu	37	9	35045666	35045666	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:35045666G>A	uc003zvw.3	+	1	3069	c.3040G>A	c.(3040-3042)Ggt>Agt	p.G1014S	C9orf131_uc003zvu.3_Missense_Mutation_p.G966S|C9orf131_uc003zvv.3_Missense_Mutation_p.G941S|C9orf131_uc003zvx.3_Missense_Mutation_p.G979S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	1014										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAGCTTCGGGTCCCCAGGA	0.577000														26			19		0	0	0.00074312	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115512	220115512	+	Silent	SNP	T	C	C	rs141922502	byFrequency	TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:220115512T>C	uc002vkt.1	-	3	967	c.909A>G	c.(907-909)gtA>gtG	p.V303V	TUBA4A_uc010zkz.1_Silent_p.V288V|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	303					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCACACTTTACCATCTGGT	0.567000														59			28		0	0	0.00178596	0	0
LRBA	987	broad.mit.edu	37	4	151392883	151392883	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:151392883G>A	uc010ipj.3	-	43	6837	c.6593C>T	c.(6592-6594)tCa>tTa	p.S2198L	LRBA_uc003ils.4_Missense_Mutation_p.S88L|LRBA_uc003ilt.4_Missense_Mutation_p.S846L|LRBA_uc003ilu.4_Missense_Mutation_p.S2187L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2198						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACTAGCTAATGAAATACGTCT	0.313000														61			30		0	0	0.00283554	0	0
FAT1	2195	broad.mit.edu	37	4	187541133	187541133	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:187541133G>A	uc003izf.3	-	9	6795	c.6607C>T	c.(6607-6609)Cac>Tac	p.H2203Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2203	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTGCACGTGGACCACAGGG	0.488000										HNSCC(5;0.00058)				97			35		0	0	0.00128727	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032887	153032887	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:153032887C>T	uc010nuk.2	+	3	945	c.674C>T	c.(673-675)cCc>cTc	p.P225L	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.P202L|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	202	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTGCCACCCCTGGCCATC	0.711000														25			4		0	0	0.00024832	0	0
SPRED1	161742	broad.mit.edu	37	15	38643623	38643623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:38643623C>T	uc001zka.4	+	6	1428	c.1093C>T	c.(1093-1095)Caa>Taa	p.Q365*		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	365	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATGCATATATCAAGTTAGTTG	0.428000									Legius syndrome					84			38		0	0	0.000953801	0	0
DOCK9	23348	broad.mit.edu	37	13	99538816	99538816	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr13:99538816G>A	uc001vnt.2	-	18	2164	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	DOCK9_uc001vnw.2_Silent_p.H702H|DOCK9_uc021rlw.1_Silent_p.H702H|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.H703H|DOCK9_uc010tis.1_Silent_p.H702H|DOCK9_uc010tit.1_Silent_p.H703H|DOCK9_uc010afu.1_Silent_p.H518H	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	703	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTGGTGATGGTGTAAAACTG	0.403000														32			8		0	0	0.000442599	0	0
VSIG1	340547	broad.mit.edu	37	X	107316583	107316583	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:107316583C>T	uc011msk.2	+	5	941	c.780C>T	c.(778-780)atC>atT	p.I260I	VSIG1_uc004eno.3_Silent_p.I224I	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	224						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CCTGCGAAATCGATCTCACTT	0.413000														222			48		0	0	0.000781405	0	0
PLCB4	5332	broad.mit.edu	37	20	9402023	9402023	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:9402023C>T	uc021wam.1	+	22	2213	c.2198C>T	c.(2197-2199)aCc>aTc	p.T733I	PLCB4_uc010gbw.1_Missense_Mutation_p.T733I|PLCB4_uc010gbx.3_Missense_Mutation_p.T745I|PLCB4_uc021wal.1_Missense_Mutation_p.T733I|PLCB4_uc002wnh.3_Missense_Mutation_p.T580I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	733	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCCACTGACACCATACGTAAG	0.413000														47			23		0	0	0.00188189	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667861	70667861	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:70667861G>A	uc003xyl.3	-	3	1763	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	SLCO5A1_uc010lzb.3_Silent_p.L352L|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.L352L|SLCO5A1_uc010lzc.2_Silent_p.L352L	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	352						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGCACAAAGGAGGAATCCAC	0.343000														24			13		0	0	0.00136819	0	0
ACOT8	10005	broad.mit.edu	37	20	44477272	44477272	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:44477272C>T	uc002xqa.2	-	2	399	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	ACOT8_uc010zxe.2_Missense_Mutation_p.R102Q|ACOT8_uc002xqc.2_Missense_Mutation_p.R49Q|ACOT8_uc010zxf.2_Intron	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	102					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CGACCCTGTTCGTGTCCGCTC	0.627000														34			9		0	0	0.000673444	0	0
ALG10B	144245	broad.mit.edu	37	12	38714839	38714839	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:38714839C>T	uc001rln.4	+	2	1385	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.333000														118			41		0	0	0.000781405	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678062	25678062	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr4:25678062G>A	uc003grr.3	+	12	1845	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	SLC34A2_uc003grs.3_Silent_p.Q587Q|SLC34A2_uc010iev.3_Silent_p.Q587Q	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	588					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGAAACTCCAGAACTGGAACT	0.612000			T	ROS1	NSCLC									91			38		0	0	0.0025221	0	0
VIL1	7429	broad.mit.edu	37	2	219301212	219301212	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:219301212G>A	uc002vib.3	+	14	1856	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	VIL1_uc010zke.2_Missense_Mutation_p.E301K|VIL1_uc002via.3_Missense_Mutation_p.E612K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	612	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGACTACAGGAAGAAAACCT	0.512000														143			62		0	0	0.000781405	0	0
AOAH	313	broad.mit.edu	37	7	36570058	36570058	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:36570058G>A	uc022abu.1	-	18	1889	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	AOAH_uc003tfh.4_Silent_p.F496F|AOAH_uc011kba.2_Silent_p.F464F	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	496					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGAAAAGATTGAAGTTTGTAA	0.403000														41			19		0	0	0.00152264	0	0
LRRC6	23639	broad.mit.edu	37	8	133584601	133584601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:133584601C>T	uc003ytk.3	-	11	1428	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	LRRC6_uc022bbp.1_Missense_Mutation_p.E452K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	452						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTTGGGTCTTCCTCACTTGGT	0.478000														108			39		0	0	0.00148497	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741125	96741125	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:96741125A>T	uc001kka.4	+	6	1172	c.1147A>T	c.(1147-1149)Aag>Tag	p.K383*	CYP2C9_uc009xut.3_Nonsense_Mutation_p.K381*	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	383					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCATTCCCAAGGTAAGTTT	0.458000														43			16		0	0	0.000422831	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072313	34072313	+	Missense_Mutation	SNP	G	A	A	rs146507597		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr21:34072313G>A	uc002yqh.2	-	3	431	c.431C>T	c.(430-432)tCa>tTa	p.S144L	SYNJ1_uc011ads.1_Missense_Mutation_p.S105L|SYNJ1_uc002yqf.2_Missense_Mutation_p.S105L|SYNJ1_uc002yqg.2_Missense_Mutation_p.S105L|SYNJ1_uc002yqi.2_Missense_Mutation_p.S144L	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	105	SAC.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GATTCGCAGTGATATAAACTC	0.383000														27			20		0	0	0.000958276	0	0
PTPRO	5800	broad.mit.edu	37	12	15661550	15661550	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:15661550A>C	uc001rcv.2	+	6	1783	c.1313A>C	c.(1312-1314)cAc>cCc	p.H438P	PTPRO_uc001rcw.2_Missense_Mutation_p.H438P|PTPRO_uc001rcu.2_Missense_Mutation_p.H438P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	438	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H438H(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGCCGCAGCACGTGAGTGTC	0.502000														25			14		0	0	0.000422831	0	0
FBXL7	23194	broad.mit.edu	37	5	15928108	15928108	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr5:15928108C>T	uc003jfn.1	+	2	718	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	79					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTCGTCCTCCATCACCGGGG	0.657000														11			13		0	0	0.00185496	0	0
PLCB4	5332	broad.mit.edu	37	20	9317777	9317777	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:9317777C>T	uc021wam.1	+	1	104	c.89C>T	c.(88-90)tCc>tTc	p.S30F	PLCB4_uc010gbw.1_Missense_Mutation_p.S30F|PLCB4_uc010gbx.3_Missense_Mutation_p.S30F|PLCB4_uc021wal.1_Missense_Mutation_p.S30F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	30					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGACAGGAATCCTTTGTGTTT	0.373000														64			20		0	0	0.00278032	0	0
AOAH	313	broad.mit.edu	37	7	36616204	36616204	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr7:36616204C>T	uc022abu.1	-	12	1398	c.997G>A	c.(997-999)Gac>Aac	p.D333N	AOAH_uc003tfh.4_Missense_Mutation_p.D333N|AOAH_uc011kba.2_Missense_Mutation_p.D301N	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	333					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTCTGGTAGTCCCTGTGATTA	0.308000														161			32		0	0	0.00128727	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204401437	204401437	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:204401437C>T	uc001haw.3	-	27	4525	c.4046G>A	c.(4045-4047)cGg>cAg	p.R1349Q	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R1321Q	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1349					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R1349W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGGGTCAGCCGGTCATCTGA	0.527000														93			27		0	0	0.00106085	0	0
RP1L1	94137	broad.mit.edu	37	8	10467773	10467773	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr8:10467773C>T	uc003wtc.3	-	3	4064	c.3835G>A	c.(3835-3837)Gac>Aac	p.D1279N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1279					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTCACTGTCTCTTTCTGCT	0.517000														108			43		0	0	0.000781405	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215620	50215620	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr15:50215620G>A	uc001zxu.3	-	16	1856	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S	ATP8B4_uc010ber.3_Missense_Mutation_p.P445S|ATP8B4_uc010ufd.2_Missense_Mutation_p.P382S|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	572					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCATTGGAAGGATGAAGTTTT	0.408000														29			11		0	0	0.00136819	0	0
ARNT	405	broad.mit.edu	37	1	150804825	150804825	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:150804825A>C	uc001evr.2	-	8	1055	c.854T>G	c.(853-855)gTg>gGg	p.V285G	ARNT_uc001evs.2_Missense_Mutation_p.V270G|ARNT_uc009wmd.2_Missense_Mutation_p.V270G|ARNT_uc009wmb.2_Missense_Mutation_p.V276G|ARNT_uc009wmc.2_Missense_Mutation_p.V285G|ARNT_uc009wme.2_Missense_Mutation_p.V285G|ARNT_uc010pcl.2_Missense_Mutation_p.V269G	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	285					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGTTCCTCACAAAGCTCAG	0.438000			T	ETV6	AML									134			27		0	0	0.001512	0	0
C6orf165	154313	broad.mit.edu	37	6	88173827	88173827	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr6:88173827G>A	uc003plv.3	+	12	1851	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Silent_p.K388K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	576										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACCCTCCAAAGGACACTAGCA	0.478000														27			15		0	0	0.000308642	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25551	25551	+	RNA	SNP	A	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrGL000241.1:25551A>G	uc011mgv.2	-	3		c.441T>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		ATCCATTTCAATGGCTATGGT	0.378000														355			10		0	0	0.000422831	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470996	53470996	+	Silent	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:53470996G>A	uc001sbt.2	-	1	160	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	25	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGCCAATTCAGAAACCGGTAG	0.507000														30			11		0	0	0.000978159	0	0
RBM11	54033	broad.mit.edu	37	21	15592007	15592007	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr21:15592007C>T	uc002yjo.4	+	1	262	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	74	RRM.						RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GAATGGAATTCGTTTATATGG	0.388000														34			19		0	0	0.00074312	0	0
HERC4	26091	broad.mit.edu	37	10	69752044	69752044	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr10:69752044G>A	uc001jng.4	-	10	1494	c.1183C>T	c.(1183-1185)Ccg>Tcg	p.P395S	HERC4_uc009xpq.3_5'UTR|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.P395S|HERC4_uc009xpr.3_Missense_Mutation_p.P395S|HERC4_uc001jni.4_Missense_Mutation_p.P139S|HERC4_uc021prr.1_5'Flank	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	395					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGCTTTGTCGGATTGGGACAT	0.393000														44			34		0	0	0.000953801	0	0
P2RY2	5029	broad.mit.edu	37	11	72946179	72946179	+	Silent	SNP	C	T	T			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr11:72946179C>T	uc021qna.1	+	0	975	c.975C>T	c.(973-975)ggC>ggT	p.G325G	P2RY2_uc001otk.3_Silent_p.G325G|P2RY2_uc001otj.3_Silent_p.G325G|P2RY2_uc001otl.3_Silent_p.G325G	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	325					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CACCCACTGGCCCCAGCCCTG	0.642000														28			7		0	0	0.000274275	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808712	48808712	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:48808712G>A	uc002rwp.2	+	1	1054	c.940G>A	c.(940-942)Gga>Aga	p.G314R	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G314R|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.G314R|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.G314R|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G314R	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	314					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTATGAACAGGGATTAGAAAA	0.393000														79			36		0	0	0.000814825	0	0
C1orf173	127254	broad.mit.edu	37	1	75037784	75037784	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr1:75037784delG	uc001dgg.3	-	13	3829	c.3610delC	c.(3610-3612)ctgfs	p.L1204fs		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1204	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTTCAGGGCCCTATTC	0.587													---	149	---	---	48	---					
KIAA1715	80856	broad.mit.edu	37	2	176857060	176857060	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr2:176857060delA	uc010fqw.1	-	3	354	c.354delT	c.(352-354)gttfs	p.V118fs	KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc002ukc.1_Frame_Shift_Del_p.V52fs|KIAA1715_uc010zer.1_Frame_Shift_Del_p.V52fs|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	52						integral to membrane	protein binding	p.K118T(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACAGATAGAGAACTGAGGAAT	0.323													---	40	---	---	14	---					
KLHL24	54800	broad.mit.edu	37	3	183390139	183390139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr3:183390139delT	uc003flv.3	+	6	1764	c.1469delT	c.(1468-1470)attfs	p.I490fs	KLHL24_uc003flw.3_Frame_Shift_Del_p.I490fs|KLHL24_uc003flx.3_Frame_Shift_Del_p.I490fs	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	490						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCTATCCCAATTGCCAAAAGG	0.348													---	72	---	---	9	---					
TPRN	286262	broad.mit.edu	37	9	140094220	140094221	+	Frame_Shift_Ins	INS	-	GG	GG			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr9:140094220_140094221insGG	uc004clt.3	-	0	943_944	c.943_944insCC	c.(943-945)ctcfs	p.L315fs	TPRN_uc004clu.3_Frame_Shift_Ins_p.L315fs	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	315					sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCGGGCCTGGAGGTCCCCCAAG	0.653													---	23	---	---	9	---					
SLCO1C1	53919	broad.mit.edu	37	12	20874883	20874883	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:20874883delT	uc010sii.2	+	8	1276	c.921delT	c.(919-921)gatfs	p.D307fs	SLCO1C1_uc010sij.2_Frame_Shift_Del_p.D258fs|SLCO1C1_uc009zip.3_Frame_Shift_Del_p.D141fs|SLCO1C1_uc001rei.3_Frame_Shift_Del_p.D307fs|SLCO1C1_uc010sik.2_Frame_Shift_Del_p.D189fs	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	307					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GTAGAGAGGATTCTAATTCTT	0.398													---	33	---	---	9	---					
ERBB3	2065	broad.mit.edu	37	12	56490961	56490962	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr12:56490961_56490962insG	uc001sjh.3	+	19	2683_2684	c.2407_2408insG	c.(2407-2409)cggfs	p.R803fs	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Frame_Shift_Ins_p.R160fs|ERBB3_uc010sqc.2_Frame_Shift_Ins_p.R744fs|ERBB3_uc009zok.3_Intron|ERBB3_uc001sjk.3_Frame_Shift_Ins_p.R44fs	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	803	Protein kinase.				Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGACAACACCGGGGGGCACTG	0.540													---	65	---	---	21	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	-	-	rs138961929		TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chr20:4850569delG	uc002wlg.1	-	11	1608	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.3_Frame_Shift_Del_p.P410fs	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													---	157	---	---	9	---					
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	-	-			TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:140994844_140994846delCCT	uc004fbt.3	+	3	1978_1980	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_In_Frame_Del_p.P212del	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	553							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)			---	381	---	---	9	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	-	-	rs7877654	byFrequency	TCGA-DA-A1I5-06A-11D-A197-08	TCGA-DA-A1I5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21b8363b-b36f-42c6-a9f7-f103c1355869	13c2d362-fd77-48c1-a2bb-49d9e685b0b9	g.chrX:149937526_149937528delGGC	uc004fek.3	-	11	1026_1028	c.798_800delGCC	c.(796-801)ccgccc>ccc	p.266_267PP>P	CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	256					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													---	241	---	---	7	---					
