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
HLCS	3141	broad.mit.edu	37	21	38137355	38137355	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:38137355G>A	uc010gnb.3	-	8	3052	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S	HLCS_uc021wjb.1_Silent_p.S546S|HLCS_uc002yvs.3_Silent_p.S546S	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	546					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGACAGCCACGGACATCAGAT	0.532000														79			10		0	0	0.006214	0	0
C1orf9	51430	broad.mit.edu	37	1	172522443	172522443	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:172522443C>T	uc001giq.4	+	2	537	c.221C>T	c.(220-222)tCa>tTa	p.S74L	C1orf9_uc010pmm.1_Missense_Mutation_p.S74L|C1orf9_uc009wwd.3_Intron|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	74					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TTGGGAAAATCAGGTTCAAAT	0.303000														96			36		0	0	0.006230	0	0
CAPN9	10753	broad.mit.edu	37	1	230907770	230907770	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:230907770G>A	uc001htz.1	+	6	913	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CAPN9_uc009xfg.1_Missense_Mutation_p.R204Q|CAPN9_uc001hua.1_Missense_Mutation_p.R267Q	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	267	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTAAGCTTCCGAGGCCAGAGA	0.537000														110			16		0	0	0.004990	0	0
MUC17	140453	broad.mit.edu	37	7	100677647	100677647	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100677647C>T	uc003uxp.1	+	2	3003	c.2950C>T	c.(2950-2952)Cca>Tca	p.P984S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	984	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAACGACTCCATTAACAAG	0.512000														319			81		0	0	0.014410	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925162	53925162	+	Silent	SNP	G	A	A	rs150523807	byFrequency	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:53925162G>A	uc001cvq.1	+	0	91	c.36G>A	c.(34-36)tcG>tcA	p.S12S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	12					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.S12S(2)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCAAGTGCTCGAGATGCAGGA	0.612000														30			7		0	0	0.004482	0	0
PDE6C	5146	broad.mit.edu	37	10	95400236	95400236	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:95400236G>A	uc001kiu.4	+	12	1797	c.1659G>A	c.(1657-1659)agG>agA	p.R553R		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	553					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACACTGTGAGGAAAGGGTACC	0.443000														57			23		0	0	0.006320	0	0
OR2G6	391211	broad.mit.edu	37	1	248684993	248684993	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:248684993G>A	uc001ien.1	+	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TCTTCTCCTGGGATTTTCAGA	0.423000														84			28		0	0	0.010818	0	0
FLNC	2318	broad.mit.edu	37	7	128480651	128480651	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:128480651C>T	uc003vnz.4	+	9	1808	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	FLNC_uc003voa.4_Silent_p.F533F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	533					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATGGTGTGTTCGAGTGCGAGT	0.617000														93			24		0	0	0.003330	0	0
MORF4L1	10933	broad.mit.edu	37	15	79185883	79185883	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:79185883C>T	uc002bel.3	+	9	848	c.660C>T	c.(658-660)ctC>ctT	p.L220L	MORF4L1_uc002bem.3_Silent_p.L181L|MORF4L1_uc010une.2_Silent_p.L93L	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.	220	Interaction with RB1-1.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone H2A acetylation|histone H4 acetylation|histone deacetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CTTCATAGCTCTTTTATCTTC	0.308000														65			10		0	0	0.008291	0	0
STC1	6781	broad.mit.edu	37	8	23708887	23708887	+	Missense_Mutation	SNP	C	T	T	rs150986463		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:23708887C>T	uc003xdw.1	-	2	703	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	140					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTCAGGGTTCCGCTTGGCGAT	0.532000														108			20		0	0	0.012319	0	0
DOCK2	1794	broad.mit.edu	37	5	169506118	169506118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:169506118G>A	uc003maf.3	+	48	5214	c.5134G>A	c.(5134-5136)Gag>Aag	p.E1712K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.E1204K|DOCK2_uc003mah.3_Missense_Mutation_p.E268K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1712					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTTGCGGATGAGAAAGCAGC	0.572000														39			12		0	0	0.002450	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996335	140996335	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:140996335G>A	uc004fbt.3	+	3	3469	c.3145G>A	c.(3145-3147)Gtg>Atg	p.V1049M	MAGEC1_uc010nsl.2_Missense_Mutation_p.V116M|MAGEC1_uc022cfi.1_Missense_Mutation_p.V708M	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1049	MAGE.						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)					TAAAGTTTGGGTGCAGGAACA	0.542000										HNSCC(15;0.026)				65			14		0	0	0.001855	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387272	61387272	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:61387272G>A	uc002ljk.4	+	6	669	c.498G>A	c.(496-498)aaG>aaA	p.K166K	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_Silent_p.K53K|SERPINB11_uc002ljj.4_Silent_p.K53K|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	167					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTTTGGAAAGAGCACAATTG	0.328000														45			14		0	0	0.003163	0	0
TACR2	6865	broad.mit.edu	37	10	71164782	71164782	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:71164782C>T	uc001jpn.2	-	4	1592	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	TACR2_uc001jpm.2_Missense_Mutation_p.E121K	NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	333					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	AGCTTATCTTCCTTGGTGGGT	0.607000														69			15		0	0	0.004007	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117787	117787	+	RNA	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrGL000205.1:117787G>A	uc002kgk.4	+	0		c.1165G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCTTTGCAGGATGGGATCG	0.567000														70			8		0	0	0.003080	0	0
OR5M1	390168	broad.mit.edu	37	11	56380100	56380100	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:56380100C>T	uc001nja.1	-	0	879	c.879G>A	c.(877-879)cgG>cgA	p.R293R	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CATCTGTGTTCCGTAGGCTAT	0.393000														102			25		0	0	0.009535	0	0
CABLES2	81928	broad.mit.edu	37	20	60971643	60971643	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:60971643C>T	uc002ycv.2	-	1	375	c.368G>A	c.(367-369)cGa>cAa	p.R123Q		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	123					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGACGTGACTCGCTTCCTGCA	0.647000														11			4		0	0	0.009096	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430958	37430958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:37430958G>A	uc021ppc.1	+	6	1064	c.965G>A	c.(964-966)gGa>gAa	p.G322E	ANKRD30A_uc001iza.1_Missense_Mutation_p.G322E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	378						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAGCAAAAGGAAGACCTAGG	0.433000														61			16		0	0	0.006122	0	0
CEL	1056	broad.mit.edu	37	9	135946651	135946651	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:135946651T>G	uc010naa.1	+	10	1787	c.1771T>G	c.(1771-1773)Tcc>Gcc	p.S591A		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	588	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CACGGGTGACTCCGGGGCCCC	0.806000														26			3		0	0	0.009096	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706525	41706525	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:41706525C>A	uc001uxu.1	-	0	412	c.123G>T	c.(121-123)aaG>aaT	p.K41N	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	41							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGGCCGTGTCCTTTAATTCCT	0.607000														90			25		1.66031e-10	1.94409e-10	0.003954	1	0
TNN	63923	broad.mit.edu	37	1	175097807	175097807	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:175097807C>T	uc001gkl.1	+	14	3368	c.3255C>T	c.(3253-3255)acC>acT	p.T1085T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1085	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCTGTACACCATCTACCTGC	0.597000														81			33		0	0	0.013726	0	0
CHRM3	1131	broad.mit.edu	37	1	240071148	240071148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:240071148C>T	uc021plc.1	+	0	397	c.397C>T	c.(397-399)Cga>Tga	p.R133*	CHRM3_uc001hyp.3_Nonsense_Mutation_p.R133*	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	133					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CATCATGAATCGATGGGCCTT	0.478000														81			10		0	0	0.008291	0	0
GPR98	84059	broad.mit.edu	37	5	90281229	90281229	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:90281229C>T	uc003kju.3	+	84	18138	c.18042C>T	c.(18040-18042)ttC>ttT	p.F6014F	GPR98_uc003kjt.3_Silent_p.F3720F|GPR98_uc003kjw.3_Silent_p.F1675F|GPR98_uc003kjx.3_Silent_p.F42F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6014					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)		TGCTGTTTTTCCTTCTGAGTT	0.413000														27			8		0	0	0.003080	0	0
KCNT1	57582	broad.mit.edu	37	9	138678108	138678108	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:138678108C>T	uc011mdq.2	+	28	3317	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	KCNT1_uc011mdr.2_Silent_p.S908S|KCNT1_uc010nbf.3_Silent_p.S1036S|KCNT1_uc004cgo.1_3'UTR	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1081						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGGGGCTCCCGCGCTGGCA	0.731000														17			9		0	0	0.010729	0	0
LRCH4	4034	broad.mit.edu	37	7	100179450	100179450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100179450G>A	uc003uvj.3	-	3	601	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	183					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCGCAGGGAAGAGAGGCC	0.587000														36			11		0	0	0.010729	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988095	154988095	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:154988095C>A	uc001fgj.4	+	4	1346	c.1061C>A	c.(1060-1062)tCc>tAc	p.S354Y	ZBTB7B_uc009wpa.3_Missense_Mutation_p.S320Y|ZBTB7B_uc001fgk.4_Missense_Mutation_p.S320Y|ZBTB7B_uc010peq.2_Missense_Mutation_p.S354Y|ZBTB7B_uc001fgl.4_Missense_Mutation_p.S320Y	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	320					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACCTAAGCTCCCTGCACCAG	0.652000														42			11		3.07112e-06	3.56106e-06	0.010729	1	0
PRRC2A	7916	broad.mit.edu	37	6	31593278	31593278	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:31593278G>T	uc003nvb.4	+	6	898	c.649G>T	c.(649-651)Gag>Tag	p.E217*	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Nonsense_Mutation_p.E217*|PRRC2A_uc003nve.3_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	217	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGCCCTGATGAGCTGGAGGG	0.552000														90			16		1.15088e-07	1.33708e-07	0.004007	1	0
LRRC15	131578	broad.mit.edu	37	3	194080933	194080933	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:194080933G>A	uc003ftt.3	-	2	983	c.858C>T	c.(856-858)tcC>tcT	p.S286S	LRRC15_uc003ftu.3_Silent_p.S280S|LRRC15_uc021xiy.1_Silent_p.S280S	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	280			P -> L (in dbSNP:rs13070515).			integral to membrane		p.S280S(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GCTCCTTCAGGGAATTCCCAA	0.557000														42			11		0	0	0.010729	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808203	8808203	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:8808203G>A	uc002glt.3	-	4	370	c.303C>T	c.(301-303)ctC>ctT	p.L101L	PIK3R5_uc010vuz.2_Silent_p.L101L|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	101	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTTCAGAAGGAGATCCGAGT	0.537000														52			10		0	0	0.008291	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994420	91994420	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:91994420G>A	uc004aqo.1	-	17	2360	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.A596A	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	596	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGGGCTCTCGGCCTTCAACA	0.517000														200			59		0	0	0.014410	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655749	138655749	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:138655749G>A	uc003qhu.3	+	32	5937	c.5766G>A	c.(5764-5766)ctG>ctA	p.L1922L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1922					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACTTGGACCTGGAGAACTGTA	0.572000														45			5		0	0	0.001168	0	0
TRPV6	55503	broad.mit.edu	37	7	142572879	142572879	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:142572879G>A	uc003wbx.2	-	8	1390	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	TRPV6_uc003wbw.1_Silent_p.V173V|TRPV6_uc010lou.1_Silent_p.V258V	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	387					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCAGCTCCCCGACCAGCCGGA	0.567000														90			26		0	0	0.005443	0	0
JHDM1D	80853	broad.mit.edu	37	7	139810919	139810919	+	Silent	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:139810919A>G	uc003vvm.3	-	10	1408	c.1404T>C	c.(1402-1404)ctT>ctC	p.L468L	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	468					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTACTTTAGAAAGTTCTTTAA	0.338000														52			12		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179472297	179472297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:179472297C>T	uc021vsy.1	-	225	45639	c.45414G>A	c.(45412-45414)tgG>tgA	p.W15138*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W8833*|TTN_uc021vta.1_Nonsense_Mutation_p.W8766*|TTN_uc021vtb.1_Nonsense_Mutation_p.W8641*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16065	Fibronectin type-III 10.						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)			CTTCTTTGGTCCATACTTTTG	0.438000														142			35		0	0	0.005524	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706457	128706457	+	Splice_Site	SNP	A	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:128706457A>C	uc003elj.4	-	4	863	c.667_splice	c.e4+1	p.E223_splice	KIAA1257_uc003elg.1_Splice_Site_p.E223_splice|KIAA1257_uc003eli.4_Splice_Site_p.E111_splice	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	223										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAACCAGAGCACCTGACTTAT	0.443000														65			13		0	0	0.002450	0	0
OR14I1	401994	broad.mit.edu	37	1	248845431	248845431	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:248845431A>C	uc001ieu.1	-	0	175	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTCAGGAAGAAGTACATGGGT	0.502000														37			16		0	0	0.005443	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261928	125261928	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:125261928C>T	uc010flu.3	+	7	1486	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	CNTNAP5_uc002tno.3_Silent_p.S373S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	373	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGTCAACTCCAGCGGCAGCT	0.463000														70			19		0	0	0.008871	0	0
ZNF98	148198	broad.mit.edu	37	19	22585612	22585612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:22585612C>T	uc002nqt.2	-	2	354	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTTACCATCTCATGTCTCTTC	0.413000														120			13		0	0	0.001855	0	0
LPPR1	54886	broad.mit.edu	37	9	104079699	104079699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:104079699C>T	uc004bbb.3	+	6	1265	c.866C>T	c.(865-867)cCc>cTc	p.P289L	LPPR1_uc011lvi.2_Missense_Mutation_p.P265L|LPPR1_uc004bbc.3_Missense_Mutation_p.P289L|LPPR1_uc010mtc.3_Missense_Mutation_p.P273L	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	289						integral to membrane	catalytic activity										CCTTCCAAACCCAAGCCTGAG	0.488000														166			40		0	0	0.007835	0	0
ADORA1	134	broad.mit.edu	37	1	203134704	203134704	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:203134704C>T	uc010pqh.1	+	2	793	c.756C>T	c.(754-756)tcC>tcT	p.S252S	ADORA1_uc001gzf.1_Silent_p.S219S|ADORA1_uc001gze.1_Silent_p.S219S|ADORA1_uc010pqg.1_Silent_p.S151S|ADORA1_uc009xak.1_Missense_Mutation_p.R145W	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	219					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.S219S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGGCCTCCTCCGGCGACCCGC	0.582000														85			18		0	0	0.012319	0	0
KCNH4	23415	broad.mit.edu	37	17	40332925	40332926	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:40332925_40332926GG>AA	uc002hzb.2	-	0	371_372	c.38_39CC>TT	c.(37-39)acc>aTT	p.T13I		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	13					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCAGGAAGGTGTTTTGCGG	0.693000														104			27		0	0	0.004672	0	0
ACADSB	36	broad.mit.edu	37	10	124810604	124810604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:124810604G>A	uc001lhb.3	+	8	1147	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	ACADSB_uc010qub.2_Missense_Mutation_p.E242K	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	344					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CACCCAGCTGGAAGCTGCAAG	0.458000														26			10		0	0	0.010729	0	0
CEP57	9702	broad.mit.edu	37	11	95532426	95532426	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:95532426G>A	uc001pfp.2	+	1	314	c.76G>A	c.(76-78)Gga>Aga	p.G26R	CEP57_uc001pfo.2_Missense_Mutation_p.G26R|CEP57_uc009ywn.2_5'UTR|CEP57_uc010ruh.2_Missense_Mutation_p.G17R|CEP57_uc001pfq.2_Missense_Mutation_p.G26R|CEP57_uc001pfr.2_5'UTR	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	26					G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGGTCTAATGGAAGCATGGT	0.378000									Mosaic Variegated Aneuploidy Syndrome					38			15		0	0	0.004007	0	0
CCDC3	83643	broad.mit.edu	37	10	12940427	12940427	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:12940427G>A	uc001ilq.1	-	2	936	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	268						endoplasmic reticulum|extracellular region		p.Y267C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TACCCCCGCAGGTAGGGGGGG	0.647000														27			5		0	0	0.000602	0	0
PACS1	55690	broad.mit.edu	37	11	65983685	65983685	+	Silent	SNP	C	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65983685C>A	uc001oha.2	+	4	890	c.756C>A	c.(754-756)tcC>tcA	p.S252S	PACS1_uc001ogz.1_Silent_p.S252S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	252					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S252C(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGATCTACTCCCTGTCCAGCC	0.517000														40			13		0.000151284	0.000175079	0.001855	1	0
TTLL2	83887	broad.mit.edu	37	6	167754956	167754956	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:167754956C>T	uc003qvs.1	+	2	1656	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	523					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACACTCATGCCCTACGCGTCC	0.562000														63			25		0	0	0.005443	0	0
MICALL2	79778	broad.mit.edu	37	7	1484390	1484391	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:1484390_1484391GG>AA	uc003skj.4	-	5	1462_1463	c.1315_1316CC>TT	c.(1315-1317)ccg>TTg	p.P439L	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	439						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AACAAGTGACGGGGTGGGACCT	0.644000														20			4		0	0	0.004672	0	0
SLC22A18	5002	broad.mit.edu	37	11	2946301	2946301	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:2946301C>T	uc001lwx.3	+	10	1367	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	SLC22A18_uc001lwy.3_Silent_p.V383V	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	383					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GACCCACGGTCGGCGGCCTCC	0.642000														467			102		0	0	0.014410	0	0
MUC3A	4584	broad.mit.edu	37	7	100552193	100552193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100552193C>T	uc003uxl.1	+	0	1444	c.644C>T	c.(643-645)tCc>tTc	p.S215F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTATATTTCCCTTCCCTCC	0.488000														326			26		0	0	0.005443	0	0
SPP1	6696	broad.mit.edu	37	4	88903719	88903719	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:88903719C>T	uc003hra.3	+	6	781	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	SPP1_uc011cde.2_Missense_Mutation_p.P219S|SPP1_uc003hrb.3_Missense_Mutation_p.P179S|SPP1_uc003hrc.3_Missense_Mutation_p.P192S|SPP1_uc003hrd.3_Missense_Mutation_p.P165S	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	206					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAAGGCCATCCCCGTTGCCCA	0.527000														72			9		0	0	0.010729	0	0
PIBF1	10464	broad.mit.edu	37	13	73482807	73482807	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:73482807C>G	uc001vjc.3	+	11	1932	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.Q543E|PIBF1_uc010aep.3_Missense_Mutation_p.Q2E	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	543						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AATAATAATGCAAACTGCAGA	0.378000														20			9		0	0	0.006214	0	0
PCDHGB8P	56120	broad.mit.edu	37	5	140807612	140807612	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140807612C>T	uc011daz.2	+	0	1760	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	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_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_5'Flank|PCDHGC5_uc003lkt.2_5'Flank					Homo sapiens protocadherin gamma subfamily B, 8 pseudogene (PCDHGB8P), non-coding RNA.																		ACCTGGTGACCAAGGTGGTGG	0.652000														38			11		0	0	0.013537	0	0
CUL9	23113	broad.mit.edu	37	6	43153911	43153911	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:43153911C>T	uc003ouk.3	+	3	1044	c.969C>T	c.(967-969)ctC>ctT	p.L323L	CUL9_uc003ouj.1_Silent_p.L323L|CUL9_uc003oul.3_Silent_p.L323L|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	323					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGAACCTCAGCGAACAGG	0.607000														94			14		0	0	0.004007	0	0
CDC25A	993	broad.mit.edu	37	3	48226167	48226167	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:48226167G>A	uc003csh.1	-	2	630	c.266C>T	c.(265-267)cCt>cTt	p.P89L	CDC25A_uc003csi.1_Missense_Mutation_p.P89L|CDC25A_uc021wxk.1_Missense_Mutation_p.P89L	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	89					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAATGGCCCAGGAGAATCTAG	0.289000														27			5		0	0	0.000602	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438313	204438313	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:204438313C>T	uc001haw.3	-	2	1097	c.618G>A	c.(616-618)cgG>cgA	p.R206R	PIK3C2B_uc010pqv.2_Silent_p.R206R|PIK3C2B_uc001hax.1_Silent_p.R206R|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	206	Interaction with GRB2.				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.R206L(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)			CTTCTAGGATCCGATGCTCTA	0.537000														276			118		0	0	0.014410	0	0
NOX5	79400	broad.mit.edu	37	15	69347814	69347814	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:69347814C>T	uc002ars.2	+	14	2181	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Q668*|NOX5_uc002arp.2_Nonsense_Mutation_p.Q696*|NOX5_uc010bid.2_Nonsense_Mutation_p.Q679*|NOX5_uc010bie.2_Nonsense_Mutation_p.Q514*|NOX5_uc002arr.2_Nonsense_Mutation_p.Q686*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	714					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GACGCGCACCCAGCCTGGGCG	0.607000														43			11		0	0	0.010729	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720137	160720137	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:160720137C>T	uc001fwq.3	+	3	708	c.693C>T	c.(691-693)ctC>ctT	p.L231L	SLAMF7_uc010pjn.2_Silent_p.L137L|SLAMF7_uc001fws.3_Silent_p.L124L|SLAMF7_uc001fwr.3_Silent_p.L231L|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	231					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCCTGTGTCTCCTGTTGGTGC	0.507000														158			82		0	0	0.014410	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463331	5463331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:5463331C>T	uc003jdm.4	+	12	4106	c.3884C>T	c.(3883-3885)aCc>aTc	p.T1295I		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1295										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACAACATGACCACTGAGAAT	0.408000														11			5		0	0	0.001168	0	0
GDAP1	54332	broad.mit.edu	37	8	75276235	75276235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:75276235C>T	uc003yah.3	+	5	789	c.710C>T	c.(709-711)cCt>cTt	p.P237L	GDAP1_uc011lfj.2_Missense_Mutation_p.P122L|GDAP1_uc003yai.3_Missense_Mutation_p.P169L	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	237	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GGCCAGCAACCTTGGCTCTGC	0.512000														29			35		0	0	0.013726	0	0
CYTH4	27128	broad.mit.edu	37	22	37708184	37708184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:37708184G>A	uc003arf.3	+	11	1197	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	CYTH4_uc011amw.2_Missense_Mutation_p.E304K	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	361	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CACCAGTGCCGAGGAACGTGA	0.612000														34			13		0	0	0.002450	0	0
BRCA2	675	broad.mit.edu	37	13	32914693	32914693	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:32914693C>T	uc001uub.1	+	10	6428	c.6201C>T	c.(6199-6201)tcC>tcT	p.S2067S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2067					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCAAGTTTCCATTTTAGAAA	0.348000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				29			14		0	0	0.001855	0	0
ENG	2022	broad.mit.edu	37	9	130605473	130605473	+	Missense_Mutation	SNP	C	T	T	rs11545665		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:130605473C>T	uc004bsj.4	-	1	532	c.119G>A	c.(118-120)gGc>gAc	p.G40D	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Missense_Mutation_p.G40D|5S_rRNA_uc022bnt.1_5'Flank	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	40					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGTCACCTCGCCCCTCTCGGG	0.562000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					88			31		0	0	0.010818	0	0
OR5B3	441608	broad.mit.edu	37	11	58170825	58170825	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:58170825C>T	uc010rkf.2	-	0	58	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				ACCTGCAGTTCTGAGTCATTG	0.403000														47			6		0	0	0.004482	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657708	18657708	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:18657708G>A	uc003zne.4	+	7	1058	c.906G>A	c.(904-906)agG>agA	p.R302R	ADAMTSL1_uc003znb.3_Silent_p.R302R|ADAMTSL1_uc003znc.4_Silent_p.R302R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	302						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCGATGGAGGGAGACGGATT	0.463000														58			8		0	0	0.008291	0	0
SCAF4	57466	broad.mit.edu	37	21	33060664	33060664	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:33060664G>A	uc002ypd.2	-	15	2425	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S	SCAF4_uc002ype.2_Missense_Mutation_p.P667S|SCAF4_uc010glu.2_Missense_Mutation_p.P652S|SCAF4_uc002ypf.1_Missense_Mutation_p.P341S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	667						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGAATAGGAGGGACAGGCACA	0.448000														107			19		0	0	0.012319	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895623	24895623	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:24895623A>T	uc001upj.3	+	3	780	c.719A>T	c.(718-720)aAa>aTa	p.K240I	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	240	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCAGCGGGGAAATTCACGTGC	0.413000														136			18		0	0	0.012319	0	0
MYBPC3	4607	broad.mit.edu	37	11	47361206	47361206	+	Missense_Mutation	SNP	G	A	A	rs3729946		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:47361206G>A	uc021qis.1	-	20	2118	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	MYBPC3_uc021qir.1_Missense_Mutation_p.T340M|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	687	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CAGTACCTGCGTGATAGCCTT	0.552000														3			4		0	0	0.009096	0	0
TBX21	30009	broad.mit.edu	37	17	45822469	45822469	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:45822469C>T	uc002ilv.1	+	5	1556	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	449					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.F448L(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCTGGTTCCGCCCTATGCG	0.677000														24			8		0	0	0.006214	0	0
FBXW9	84261	broad.mit.edu	37	19	12800953	12800953	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:12800953G>A	uc010dyx.2	-	5	915	c.915C>T	c.(913-915)atC>atT	p.I305I	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	315							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGTGAGGAGGGATATCAGAGC	0.642000														36			6		0	0	0.001168	0	0
DSG1	1828	broad.mit.edu	37	18	28923429	28923429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:28923429G>A	uc002kwp.3	+	11	1916	c.1704G>A	c.(1702-1704)atG>atA	p.M568I	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	568					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CATTTTTGATGATCTGTTGTG	0.428000														134			19		0	0	0.010504	0	0
CNBD1	168975	broad.mit.edu	37	8	88249305	88249305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:88249305C>T	uc003ydy.2	+	5	784	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	246								p.T245T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAACTCTACACTTGCTGAGAT	0.373000														72			11		0	0	0.013537	0	0
DCBLD1	285761	broad.mit.edu	37	6	117825084	117825084	+	Silent	SNP	C	T	T	rs76896058	byFrequency	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:117825084C>T	uc003pxs.3	+	1	392	c.267C>T	c.(265-267)atC>atT	p.I89I	ROS1_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.I89I	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 1 (DCBLD1), mRNA.	89	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ATTTGGATATCGAATCCCAGA	0.413000														58			22		0	0	0.003954	0	0
FAM222B	55731	broad.mit.edu	37	17	27086634	27086635	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:27086634_27086635CC>TT	uc002hct.1	-	2	609_610	c.342_343GG>AA	c.(340-345)aaggac>aaAAac	p.D115N	FAM222B_uc010wax.1_Missense_Mutation_p.D115N|FAM222B_uc010way.1_Missense_Mutation_p.D115N|FAM222B_uc002hcw.3_5'UTR	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Homo sapiens chromosome 17 open reading frame 63 (C17orf63), transcript variant 2, mRNA.	115																	CCGTCAAAGTCCTTGAGTATGC	0.609000														12			6		0	0	0.004672	0	0
SPACA1	81833	broad.mit.edu	37	6	88773912	88773912	+	Silent	SNP	T	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:88773912T>C	uc003pmn.3	+	5	823	c.706T>C	c.(706-708)Tta>Cta	p.L236L		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	236						integral to membrane		p.F235V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TATAATTTTCTTATTGATCTT	0.393000														40			16		0	0	0.004007	0	0
SAMD14	201191	broad.mit.edu	37	17	48193396	48193396	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:48193396C>T	uc002iqf.3	-	4	857	c.558G>A	c.(556-558)aaG>aaA	p.K186K	SAMD14_uc002iqe.3_5'UTR|SAMD14_uc002iqg.3_Silent_p.K186K	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	186										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCGAGTCTTCTTATCGAGGC	0.627000														30			5		0	0	0.003080	0	0
WDR96	80217	broad.mit.edu	37	10	105938826	105938826	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:105938826C>T	uc001kxw.3	-	18	2537	c.2421G>A	c.(2419-2421)agG>agA	p.R807R	WDR96_uc009xxq.3_Silent_p.R115R|WDR96_uc001kxx.4_Silent_p.R808R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	807										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTATCTCTTTCCTTTTCTTGG	0.323000														30			8		0	0	0.003080	0	0
F2	2147	broad.mit.edu	37	11	46747451	46747451	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:46747451G>A	uc001ndf.4	+	6	645	c.602G>A	c.(601-603)gGc>gAc	p.G201D		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	201					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			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)	CGCTCCGAAGGCTCCAGTGTG	0.622000														77			30		0	0	0.009535	0	0
RELN	5649	broad.mit.edu	37	7	103202103	103202103	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:103202103G>A	uc022ajr.1	-	35	5565	c.5405C>T	c.(5404-5406)tCg>tTg	p.S1802L	RELN_uc022ajq.1_Missense_Mutation_p.S1802L|RELN_uc010liz.3_Missense_Mutation_p.S1802L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1802					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S1802L(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTAAGAATCGAGGGCAGAGG	0.463000														19			5		0	0	0.000602	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835271	12835271	+	Silent	SNP	A	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:12835271A>C	uc001aui.3	+	0	288	c.261A>C	c.(259-261)gcA>gcC	p.A87A		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	87										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTGATGCACTGCTTGCCC	0.587000														56			30		0	0	0.013726	0	0
RTN2	6253	broad.mit.edu	37	19	45997625	45997625	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:45997625G>A	uc002pcb.3	-	3	843	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	RTN2_uc002pcc.3_Missense_Mutation_p.P205S|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	205						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CTGAGCTGGGGAGTCAAGACC	0.612000														34			10		0	0	0.010729	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325354	47325354	+	RNA	SNP	G	A	A	rs4660360	by1000genomes	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:47325354G>A	uc001cqo.1	-	8		c.1214C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CATCTGGAAAGGTAATGGGTT	0.438000														76			6		0	0	0.003080	0	0
CA14	23632	broad.mit.edu	37	1	150236068	150236068	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:150236068G>A	uc001etx.3	+	8	1158	c.852G>A	c.(850-852)tcG>tcA	p.S284S		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	Homo sapiens carbonic anhydrase XIV (CA14), mRNA.	284						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGATCCTCGTATACCACAG	0.542000														184			28		0	0	0.008361	0	0
AP1B1	162	broad.mit.edu	37	22	29726639	29726639	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:29726639G>A	uc003afj.3	-	19	2771	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	AP1B1_uc003afl.3_Nonsense_Mutation_p.Q835*|AP1B1_uc003afi.3_Nonsense_Mutation_p.Q855*|AP1B1_uc003afh.3_Nonsense_Mutation_p.Q59*|AP1B1_uc011ako.2_Nonsense_Mutation_p.Q415*	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	862					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTCTGATCTGGAACTGGGCC	0.652000														14			4		0	0	0.000602	0	0
CEP89	84902	broad.mit.edu	37	19	33450905	33450905	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:33450905G>A	uc002nty.3	-	2	295	c.206C>T	c.(205-207)cCt>cTt	p.P69L	CEP89_uc002ntx.3_5'UTR|CEP89_uc010edg.3_Non-coding_Transcript|CEP89_uc002nua.3_Missense_Mutation_p.P69L|CEP89_uc002nub.1_5'UTR	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	69						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCGAGGCTGAGGAATAGCAAC	0.567000														40			7		0	0	0.001984	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6066654	6066654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:6066654C>T	uc010idb.1	-	8	1870	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	JAKMIP1_uc010idc.1_Missense_Mutation_p.D277N|JAKMIP1_uc010idd.1_Missense_Mutation_p.D462N|JAKMIP1_uc003giu.4_Missense_Mutation_p.D462N|JAKMIP1_uc011bwc.2_Missense_Mutation_p.D297N|JAKMIP1_uc003giv.4_Missense_Mutation_p.D462N|JAKMIP1_uc010ide.3_Missense_Mutation_p.D462N	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	462	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGTCCTGTCTGTGTTGTAG	0.517000														47			8		0	0	0.003080	0	0
CEL	1056	broad.mit.edu	37	9	135946657	135946657	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:135946657G>C	uc010naa.1	+	10	1793	c.1777G>C	c.(1777-1779)Gcc>Ccc	p.A593P		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	590	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGT	0.816000														19			3		0	0	0.009096	0	0
KLRC2	3822	broad.mit.edu	37	12	10588483	10588483	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:10588483C>T	uc001qyh.3	-	0	110	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	KLRC2_uc010she.1_Missense_Mutation_p.E35K|KLRC2_uc001qyk.2_Missense_Mutation_p.E35K	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	35					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.E35E(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ATTTCCTGTTCGGTTCCTGAA	0.383000														151			32		0	0	0.013726	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802259	185802259	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:185802259G>A	uc002uph.3	+	3	2730	c.2136G>A	c.(2134-2136)ggG>ggA	p.G712G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	712						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACATTCTGGGAAACATAATT	0.308000														30			9		0	0	0.004482	0	0
SCN8A	6334	broad.mit.edu	37	12	52168020	52168020	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:52168020C>T	uc001ryw.3	+	19	3871	c.3693C>T	c.(3691-3693)atC>atT	p.I1231I	SCN8A_uc010snl.2_Silent_p.I1231I|SCN8A_uc001rza.1_Non-coding_Transcript	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1231					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCGCACCATCCTGGAATATG	0.498000														43			8		0	0	0.003080	0	0
SSTR1	6751	broad.mit.edu	37	14	38679658	38679658	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:38679658C>T	uc021rsi.1	+	0	1064	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	SSTR1_uc001wul.1_Missense_Mutation_p.A355V	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	355					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GACTATTACGCCACCGCGCTC	0.582000														56			12		0	0	0.013537	0	0
RGPD4	285190	broad.mit.edu	37	2	108476283	108476283	+	Silent	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:108476283A>G	uc010ywk.2	+	11	1822	c.1740A>G	c.(1738-1740)gcA>gcG	p.A580A	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	580					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TACATTGGGCAAAATGCCTTC	0.318000														55			18		0	0	0.007291	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:115304184C>T	uc022cdd.1	+	0	651	c.651C>T	c.(649-651)atC>atT	p.I217I	AGTR2_uc004eqh.4_Silent_p.I217I	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	217					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000														12			5		0	0	0.000602	0	0
LIMK2	3985	broad.mit.edu	37	22	31662023	31662023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:31662023C>T	uc003akh.3	+	7	1091	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	LIMK2_uc003aki.3_Missense_Mutation_p.R70C|LIMK2_uc003akj.3_Missense_Mutation_p.R295C|LIMK2_uc003akk.3_Missense_Mutation_p.R295C|LIMK2_uc011aln.2_Missense_Mutation_p.R233C	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	316						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGAATCCCTTCGTTGTTCCAG	0.577000														48			15		0	0	0.004990	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152464	50152464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:50152464C>T	uc001zxu.3	-	27	3648	c.3506G>A	c.(3505-3507)tGg>tAg	p.W1169*	ATP8B4_uc010ber.3_Nonsense_Mutation_p.W1042*|ATP8B4_uc010ufd.2_Nonsense_Mutation_p.W979*|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Nonsense_Mutation_p.W172*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1169					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)		ATTTTCAATCCAGCTAGTGCT	0.393000														79			21		0	0	0.010504	0	0
MYO18B	84700	broad.mit.edu	37	22	26173699	26173699	+	Silent	SNP	C	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:26173699C>G	uc003abz.1	+	7	2269	c.2019C>G	c.(2017-2019)gtC>gtG	p.V673V	MYO18B_uc003aca.1_Silent_p.V554V|MYO18B_uc010guy.1_Silent_p.V554V|MYO18B_uc010guz.1_Silent_p.V554V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.V186V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	673	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGAGCAGGTCCTGGAACACC	0.627000														62			14		0	0	0.004990	0	0
PTGS1	5742	broad.mit.edu	37	9	125154661	125154661	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:125154661G>A	uc004bmg.1	+	10	1773	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	PTGS1_uc011lys.1_Silent_p.P484P|PTGS1_uc010mwb.1_Silent_p.P400P|PTGS1_uc004bmf.1_Silent_p.P509P|PTGS1_uc004bmh.1_Silent_p.P437P|PTGS1_uc011lyt.1_Silent_p.P437P	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	546					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	ACTGGAAGCCGAGCACATTTG	0.527000														91			21		0	0	0.014323	0	0
NLRP11	204801	broad.mit.edu	37	19	56329409	56329409	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:56329409C>T	uc010ygf.2	-	3	843	c.132G>A	c.(130-132)ctG>ctA	p.L44L	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	44	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCATCTGTATCAGTGGAAACT	0.388000														59			14		0	0	0.003163	0	0
SEC22A	26984	broad.mit.edu	37	3	122964853	122964853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:122964853C>T	uc003ege.3	+	4	728	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	SEC22A_uc003egf.3_Missense_Mutation_p.L217F	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA.	217					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TATAGAAAGTCTCCTGCAGGT	0.388000														54			11		0	0	0.008291	0	0
OR4K1	79544	broad.mit.edu	37	14	20404563	20404563	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:20404563G>A	uc001vwj.2	+	0	797	c.738G>A	c.(736-738)gtG>gtA	p.V246V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T245A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACATCACAGTGGTCATTCTTT	0.413000														79			19		0	0	0.010504	0	0
NUP210	23225	broad.mit.edu	37	3	13360633	13360633	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:13360633G>A	uc003bxv.1	-	38	5585	c.5502C>T	c.(5500-5502)ccC>ccT	p.P1834P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1834					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAAGATCCCGGGGCGTGCAGA	0.642000														26			9		0	0	0.008291	0	0
HBBP1	3044	broad.mit.edu	37	11	5264439	5264439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:5264439G>A	uc001mag.3	-	1	263	c.47C>T	c.(46-48)tCc>tTc	p.S16F						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		TTTTCCGAAGGAGATCAGCAC	0.493000														16			10		0	0	0.008291	0	0
STOX1	219736	broad.mit.edu	37	10	70645007	70645007	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:70645007C>T	uc001jos.2	+	2	1542	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	STOX1_uc001joq.3_Silent_p.S375S|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.S375S	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	485						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGCTAGGTTCCCATTTGATTT	0.448000														44			7		0	0	0.001984	0	0
CCDC110	256309	broad.mit.edu	37	4	186380657	186380657	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:186380657G>A	uc003ixu.4	-	5	1160	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	CCDC110_uc003ixv.4_Missense_Mutation_p.P325S|CCDC110_uc011ckt.1_Missense_Mutation_p.P362S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	362						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CCAGTGATGGGAATTTCTTTA	0.323000														81			24		0	0	0.002780	0	0
PPM1L	151742	broad.mit.edu	37	3	160786642	160786642	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:160786642C>T	uc003fdr.3	+	3	881	c.780C>T	c.(778-780)atC>atT	p.I260I	PPM1L_uc003fds.3_Silent_p.I81I|PPM1L_uc003fdt.3_Silent_p.I133I|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	260	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCCAGGGAATCCTGGCCATGT	0.517000														27			15		0	0	0.003163	0	0
NLRP12	91662	broad.mit.edu	37	19	54307240	54307240	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:54307240G>A	uc002qcj.4	-	5	2774	c.2554C>T	c.(2554-2556)Ctg>Ttg	p.L852L	NLRP12_uc010eqw.3_Silent_p.L134L|NLRP12_uc002qch.4_Silent_p.L851L|NLRP12_uc002qci.4_Silent_p.L851L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.L852L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	851					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGTGCCTCAGTCCCTGGCAT	0.483000														42			7		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13811926	13811926	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13811926G>A	uc003jfd.2	-	43	7279	c.7237C>T	c.(7237-7239)Ctt>Ttt	p.L2413F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2413	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTTTCTTAAGAAAACCCTGT	0.373000									Kartagener syndrome					30			4		0	0	0.009096	0	0
MSR1	4481	broad.mit.edu	37	8	16026295	16026296	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:16026295_16026296CC>TT	uc010lsu.3	-	3	419_420	c.355_356GG>AA	c.(355-357)gga>AAa	p.G119K	MSR1_uc003wwz.3_Missense_Mutation_p.G101K|MSR1_uc003wxa.3_Missense_Mutation_p.G101K|MSR1_uc003wxb.3_Missense_Mutation_p.G101K|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	101					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G101R(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCTGTCATTTCCTTTTCCCGTG	0.376000														81			23		0	0	0.004672	0	0
OR4K13	390433	broad.mit.edu	37	14	20502848	20502848	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:20502848G>A	uc010tkz.2	-	0	70	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATAAAATCTGAAGATTTTGA	0.393000														20			5		0	0	0.000602	0	0
AK024141	0	broad.mit.edu	37	14	73079089	73079089	+	RNA	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:73079089C>T	uc010arh.1	-	0		c.715G>A								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		CTGAGATAATCATTCTATATT	0.478000														48			14		0	0	0.001855	0	0
ALOX15B	247	broad.mit.edu	37	17	7945753	7945753	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:7945753C>T	uc002gju.3	+	3	632	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ALOX15B_uc002gjv.3_Silent_p.L172L|ALOX15B_uc002gjw.3_Silent_p.L172L|ALOX15B_uc010vun.2_Silent_p.L172L|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	172	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						ACTTGGAGCTCAATATCAAAT	0.547000														57			8		0	0	0.003080	0	0
CAPSL	133690	broad.mit.edu	37	5	35910583	35910583	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:35910583C>T	uc003jjt.1	-	2	295	c.200G>A	c.(199-201)gGg>gAg	p.G67E	CAPSL_uc003jju.1_Missense_Mutation_p.G67E	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	67	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATCATTTAACCCTTTCATAAA	0.318000														51			11		0	0	0.008291	0	0
LAMC3	10319	broad.mit.edu	37	9	133960930	133960930	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:133960930C>T	uc004caa.1	+	24	4148	c.4050C>T	c.(4048-4050)ccC>ccT	p.P1350P	LAMC3_uc010mze.1_Intron	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1350	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGCAGTTTCCCCGGCCCAAGG	0.632000														41			10		0	0	0.006214	0	0
CCDC63	160762	broad.mit.edu	37	12	111291224	111291224	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:111291224A>G	uc001trv.1	+	2	220	c.25A>G	c.(25-27)Aga>Gga	p.R9G	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_5'UTR|CCDC63_uc001trw.1_Intron	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	9										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAAGAACAGGAGAAAAGACTC	0.577000														31			8		0	0	0.008291	0	0
SAMD3	154075	broad.mit.edu	37	6	130476170	130476170	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:130476170C>T	uc003qbw.3	-	9	1151	c.823_splice	c.e9-1	p.E275_splice	SAMD3_uc003qbx.3_Splice_Site_p.E275_splice	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	275										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACAGCTTCTTCCTGCAAAACA	0.353000														40			6		0	0	0.001168	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913155	29913155	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:29913155G>A	uc002dut.3	+	0	1009	c.863G>A	c.(862-864)gGc>gAc	p.G288D	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.	288					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	p.G288D(2)		endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						AACACCTTCGGCAATGCCGGC	0.662000														23			7		0	0	0.004482	0	0
TG	7038	broad.mit.edu	37	8	133885333	133885333	+	Missense_Mutation	SNP	C	T	T	rs143578780		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:133885333C>T	uc003ytw.3	+	4	546	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	169	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATAAGAAATCGTCGTCTTCT	0.443000														25			27		0	0	0.008361	0	0
TRPM8	79054	broad.mit.edu	37	2	234847806	234847806	+	Silent	SNP	C	T	T	rs151205278		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:234847806C>T	uc002vvh.3	+	4	553	c.513C>T	c.(511-513)atC>atT	p.I171I	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.I121I|TRPM8_uc002vvj.3_Silent_p.I94I	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	171						integral to membrane		p.I171I(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCATCTACATCGCGCAGTCCA	0.592000														31			8		0	0	0.003080	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169566	90169566	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:90169566G>A	uc003hsm.1	-	1	2215	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	GPRIN3_uc021xqb.1_Missense_Mutation_p.P566S	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	566										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGGATTTAGGATTGAGCAGT	0.468000														56			13		0	0	0.001855	0	0
RUSC2	9853	broad.mit.edu	37	9	35561359	35561359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:35561359C>T	uc003zww.3	+	11	4786	c.4531C>T	c.(4531-4533)Cct>Tct	p.P1511S	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P1511S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1511						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTCCAACCCCTGGAAGCAG	0.652000														66			11		0	0	0.008291	0	0
ZZEF1	23140	broad.mit.edu	37	17	3916868	3916868	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:3916868G>A	uc002fxe.3	-	51	8518	c.8454C>T	c.(8452-8454)gtC>gtT	p.V2818V	ZZEF1_uc002fxg.1_Silent_p.V139V	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2818							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						GATGAGGCACGACCCTTTCTT	0.443000														119			33		0	0	0.004878	0	0
KIF21B	23046	broad.mit.edu	37	1	200978068	200978068	+	Silent	SNP	C	T	T	rs150839616		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:200978068C>T	uc001gvs.2	-	2	593	c.276G>A	c.(274-276)ggG>ggA	p.G92G	KIF21B_uc009wzl.2_Silent_p.G92G|KIF21B_uc001gvr.2_Silent_p.G92G|KIF21B_uc010ppn.2_Silent_p.G92G	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	92	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G92G(2)|p.G92R(1)|p.A91A(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGTACGTCTTCCCGGCCCCCG	0.612000														59			25		0	0	0.004656	0	0
CACNG3	10368	broad.mit.edu	37	16	24358126	24358126	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:24358126G>A	uc002dmf.3	+	1	1485	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	95					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGACACAGCCGAATATCTCCT	0.557000														27			15		0	0	0.004007	0	0
KAT6B	23522	broad.mit.edu	37	10	76739023	76739023	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:76739023C>T	uc001jwn.1	+	9	2650	c.2157C>T	c.(2155-2157)taC>taT	p.Y719Y	KAT6B_uc001jwm.1_Silent_p.Y427Y|KAT6B_uc001jwo.1_Silent_p.Y427Y|KAT6B_uc001jwp.1_Silent_p.Y536Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	719	Catalytic.				histone H3 acetylation|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 factor binding|zinc ion binding										GTGGCCGGTACCCTTCTGTGA	0.388000														35			6		0	0	0.001984	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402031	65402031	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65402031C>T	uc001oey.2	+	28	4724	c.4724C>T	c.(4723-4725)tCc>tTc	p.S1575F	PCNXL3_uc001oez.2_Missense_Mutation_p.S462F|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1575						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GATTGGAACTCCCCGCTGGTC	0.662000														11			6		0	0	0.003080	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715964	13715964	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13715964G>A	uc001rbt.2	-	12	4387	c.4208C>T	c.(4207-4209)tCc>tTc	p.S1403F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1403					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGAAGTAGGATTTGCTGCC	0.617000														17			18		0	0	0.008871	0	0
PCSK9	255738	broad.mit.edu	37	1	55512226	55512226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:55512226G>A	uc001cyf.2	+	2	792	c.430G>A	c.(430-432)Gag>Aag	p.E144K	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	144					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CGACTACATCGAGGAGGACTC	0.597000														328			84		0	0	0.014410	0	0
COL4A4	1286	broad.mit.edu	37	2	227896735	227896735	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:227896735C>T	uc021vxr.1	-	38	3844	c.3743G>A	c.(3742-3744)gGa>gAa	p.G1248E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1248E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1248	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAGCTCTTCCTGTGGCACC	0.498000														33			9		0	0	0.006214	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938863	2938863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:2938863C>T	uc001ajz.3	+	0	818	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	205						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCACACCTTCCCCTGCCAGCT	0.642000														41			5		0	0	0.003080	0	0
IFI44L	10964	broad.mit.edu	37	1	79101127	79101127	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:79101127G>A	uc010oro.2	+	4	1008	c.829G>A	c.(829-831)Gat>Aat	p.D277N	IFI44L_uc010orp.2_Missense_Mutation_p.D14N|IFI44L_uc010orq.2_Missense_Mutation_p.D14N	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	277						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACTGTGCATGGATGACATTCC	0.368000														42			7		0	0	0.003080	0	0
LOC644936	644936	broad.mit.edu	37	5	79596013	79596013	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:79596013G>A	uc010jai.3	-	0	285	c.144C>T	c.(142-144)gtC>gtT	p.V48V						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		TTTCCTGCATGACTGTGGTGG	0.557000														13			5		0	0	0.001168	0	0
BRWD1	54014	broad.mit.edu	37	21	40587164	40587164	+	Splice_Site	SNP	T	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:40587164T>C	uc002yxk.2	-	32	4080	c.3785_splice	c.e32+1	p.K1262_splice	BRWD1_uc010goc.1_Splice_Site|BRWD1_uc021wjf.1_Splice_Site_p.K1262_splice|BRWD1_uc010god.1_Splice_Site_p.K228_splice	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTACTTACTTGATAAATTTT	0.353000														23			11		0	0	0.008291	0	0
LRRC31	79782	broad.mit.edu	37	3	169578434	169578434	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:169578434G>A	uc003fgc.1	-	2	467	c.402C>T	c.(400-402)atC>atT	p.I134I	LRRC31_uc010hwp.1_Intron	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	134										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTGCTGAGTGATGGAAAGGA	0.463000														68			16		0	0	0.004007	0	0
CA9	768	broad.mit.edu	37	9	35675789	35675789	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:35675789C>T	uc003zxo.4	+	2	507	c.465C>T	c.(463-465)gcC>gcT	p.A155A	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	155	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGTCCCCAGCCTGCGCGGGCC	0.692000														16			6		0	0	0.003080	0	0
OAS3	4940	broad.mit.edu	37	12	113386914	113386914	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:113386914G>A	uc001tug.3	+	5	1365	c.1278G>A	c.(1276-1278)ccG>ccA	p.P426P		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	426	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity	p.P426P(2)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ACCTGAAGCCGAGCCCCCAGT	0.577000														42			10		0	0	0.006214	0	0
CER1	9350	broad.mit.edu	37	9	14722533	14722533	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:14722533G>A	uc003zlj.3	-	0	183	c.138C>T	c.(136-138)aaC>aaT	p.N46N		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	46					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTTCCTCATGGTTGCCTGTGG	0.567000														71			14		0	0	0.002450	0	0
WDR60	55112	broad.mit.edu	37	7	158715154	158715154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:158715154C>T	uc003woe.4	+	15	2166	c.2008C>T	c.(2008-2010)Ccc>Tcc	p.P670S	WDR60_uc010lqv.3_Intron|WDR60_uc010lqw.3_Missense_Mutation_p.P302S	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	670										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAGCTTTGTGCCCCTGCTGGA	0.517000														32			8		0	0	0.004482	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122788	12122788	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:12122788T>G	uc003nac.3	+	3	2939	c.2760T>G	c.(2758-2760)gaT>gaG	p.D920E	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	920					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTCCCTGGATGAGAGCCACC	0.507000														34			11		0	0	0.008291	0	0
ITGB5	3693	broad.mit.edu	37	3	124540214	124540215	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:124540214_124540215GT>AA	uc003eho.3	-	5	1184_1185	c.887_888AC>TT	c.(886-888)cac>cTT	p.H296L		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	296	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACTGGCCATCGTGTGGCTGCAC	0.564000														30			7		0	0	0.004672	0	0
LECT2	3950	broad.mit.edu	37	5	135283141	135283141	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:135283141C>T	uc003lbe.1	-	3	536	c.335G>A	c.(334-336)gGt>gAt	p.G112D	FBXL21_uc003lbc.3_Intron	NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	112					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTAATAGGACCTTTATACTT	0.338000														37			7		0	0	0.001984	0	0
C15orf39	56905	broad.mit.edu	37	15	75499697	75499697	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:75499697C>T	uc002azp.4	+	1	1628	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	C15orf39_uc002azq.4_Silent_p.A436A|C15orf39_uc021sqm.1_Silent_p.A195A|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	436										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACAGGAAGCCGAAGAGAAGA	0.642000														47			10		0	0	0.006214	0	0
NVL	4931	broad.mit.edu	37	1	224477257	224477257	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:224477257C>A	uc001hok.3	-	12	1566	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	NVL_uc001hol.3_Nonsense_Mutation_p.E396*|NVL_uc010pvd.2_Nonsense_Mutation_p.E411*|NVL_uc010pve.2_Nonsense_Mutation_p.E313*|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	502						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCTTCCATTTCAGGATTTTTC	0.458000														54			19		1.67942e-08	1.95877e-08	0.006122	1	0
PRKDC	5591	broad.mit.edu	37	8	48805886	48805886	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:48805886G>A	uc003xqi.3	-	30	3717	c.3660C>T	c.(3658-3660)ctC>ctT	p.L1220L	PRKDC_uc003xqj.3_Silent_p.L1220L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1220					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)				AGGTGTTGATGAGAAAAGAGA	0.507000								Non-homologous end-joining						50			6		0	0	0.001168	0	0
OR2A7	401427	broad.mit.edu	37	7	143956659	143956659	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:143956659C>T	uc011kuc.2	-	0	63	c.63G>A	c.(61-63)agG>agA	p.R21R	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GCATCTGAATCCTTGGGCCAA	0.512000														170			23		0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179577973	179577973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:179577973C>T	uc021vsy.1	-	89	23381	c.23156G>A	c.(23155-23157)gGa>gAa	p.G7719E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4380E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8646	Ig-like 59.						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)			GATCTCATTTCCTTCATGGAA	0.433000														16			4		0	0	0.009096	0	0
DNAH5	1767	broad.mit.edu	37	5	13824350	13824350	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13824350C>T	uc003jfd.2	-	38	6579	c.6537G>A	c.(6535-6537)acG>acA	p.T2179T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2179					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGACAATCGTGGACTCCG	0.448000									Kartagener syndrome					30			9		0	0	0.004482	0	0
NCR2	9436	broad.mit.edu	37	6	41318504	41318505	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:41318504_41318505CC>TT	uc003oqh.2	+	4	820_821	c.733_734CC>TT	c.(733-735)ccc>TTc	p.P245F	NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	245					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					cacggaccttccctggacctca	0.470000														45			10		0	0	0.004672	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405571	20405571	+	RNA	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:20405571C>T	uc002gxb.3	-	4		c.1465G>A								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		CCTTTGGTTTCCTCCAGGCTG	0.562000														15			5		0	0	0.001984	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183445	200183445	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:200183445C>T	uc009wzi.1	+	0	790	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	252					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CACAGAGATCCCCTAAGGCCC	0.532000														99			31		0	0	0.013726	0	0
COL4A1	1282	broad.mit.edu	37	13	110831344	110831344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:110831344G>A	uc001vqw.4	-	30	2506	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	795	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G794E(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AACTCCTGGAGACCCCACGGA	0.587000														21			4		0	0	0.009096	0	0
RGL1	23179	broad.mit.edu	37	1	183711344	183711344	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:183711344C>T	uc001gqm.3	+	1	513	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	RGL1_uc010pof.1_5'UTR|RGL1_uc010pog.2_Missense_Mutation_p.L18F|RGL1_uc010poh.2_Missense_Mutation_p.L18F	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TAAATTCAAACTTTCCACCAA	0.448000														41			17		0	0	0.006122	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929757	31929757	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:31929757C>T	uc003nyn.1	+	9	1379	c.990C>T	c.(988-990)gtC>gtT	p.V330V	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Silent_p.V172V|SKIV2L_uc011dov.1_Silent_p.V137V	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	330	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGTCTTTGTCGCAGCTCACA	0.507000														323			191		0	0	0.014410	0	0
THBD	7056	broad.mit.edu	37	20	23028831	23028831	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:23028831G>A	uc002wss.3	-	0	1471	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.F378F	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	437	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCGTGCAGATGAAACCGTCGT	0.622000														46			10		0	0	0.006214	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098746	92098746	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:92098746C>T	uc022ahe.1	-	0	950	c.950G>A	c.(949-951)aGa>aAa	p.R317K		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	317		Cleavage.			syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						aatgggtactcttttgttgcg	0.428000														81			18		0	0	0.008871	0	0
CD244	51744	broad.mit.edu	37	1	160832413	160832414	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:160832413_160832414CC>TT	uc009wtq.3	-	0	279_280	c.54_55GG>AA	c.(52-57)cagggc>caAAgc	p.G19S	CD244_uc001fxa.3_Missense_Mutation_p.G19S|CD244_uc009wtr.3_Missense_Mutation_p.G19S|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	19					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTACCTTTGCCCTGATACACCT	0.619000														43			5		0	0	0.004672	0	0
ITGA7	3679	broad.mit.edu	37	12	56090749	56090749	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:56090749G>A	uc001shh.3	-	11	1903	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	ITGA7_uc001shg.3_Silent_p.A557A|ITGA7_uc010sps.2_Silent_p.A464A|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.A438A	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	601					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGTGCCCGAGGCCTGGTGCT	0.607000														35			8		0	0	0.003080	0	0
FMN2	56776	broad.mit.edu	37	1	240371059	240371059	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:240371059G>A	uc010pye.2	+	5	3184	c.2959G>A	c.(2959-2961)Gga>Aga	p.G987R	FMN2_uc010pyd.2_Missense_Mutation_p.G983R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	983	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.H986Q(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.716000														40			6		0	0	0.004482	0	0
FAM73A	374986	broad.mit.edu	37	1	78249030	78249030	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:78249030C>T	uc010ork.2	+	1	221	c.189C>T	c.(187-189)ctC>ctT	p.L63L	FAM73A_uc001dhx.3_Silent_p.L63L|FAM73A_uc010orl.2_Intron	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	63						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ACTATTCTCTCTCCCAGGTAA	0.363000														37			6		0	0	0.001168	0	0
PTPN11	5781	broad.mit.edu	37	12	112926862	112926862	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:112926862C>T	uc001ttx.3	+	12	1862	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	498	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAAAACCATCCAGATGGTGC	0.453000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					110			28		0	0	0.008361	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594277	140594277	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140594277G>A	uc003lja.1	+	0	769	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	194	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E194R(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATACCCAGAGCTGGTGCTGG	0.522000														41			8		0	0	0.006214	0	0
GLYAT	10249	broad.mit.edu	37	11	58482865	58482865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:58482865C>T	uc001nnb.3	-	2	268	c.113G>A	c.(112-114)gGa>gAa	p.G38E	GLYAT_uc001nnc.3_Missense_Mutation_p.G38E	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GAATGGATTTCCATGGTTTAT	0.398000														17			5		0	0	0.000602	0	0
AARSD1	80755	broad.mit.edu	37	17	41103881	41103881	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:41103881C>T	uc010whg.2	-	15	1907	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	AARSD1_uc002icd.3_Missense_Mutation_p.E460K	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	347					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCACCTTTCTCATCGCCCACA	0.517000														65			13		0	0	0.013537	0	0
GOT2	2806	broad.mit.edu	37	16	58749966	58749966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:58749966G>A	uc002eof.1	-	7	1085	c.971C>T	c.(970-972)gCc>gTc	p.A324V	GOT2_uc010vim.1_Missense_Mutation_p.A281V	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	324					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.G323R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCAATCCGGGCCCCATTGAG	0.512000														49			10		0	0	0.008291	0	0
HLX	3142	broad.mit.edu	37	1	221058014	221058014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:221058014G>A	uc001hmv.4	+	3	1892	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	479					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAAAAGCCCCGAGCCAGCCCA	0.672000														24			11		0	0	0.001855	0	0
TRPM8	79054	broad.mit.edu	37	2	234915547	234915547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:234915547G>A	uc002vvh.3	+	22	3221	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	TRPM8_uc010fyj.3_Missense_Mutation_p.E639K|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	1061						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTCATGAAGGAAAACTACCT	0.413000														19			12		0	0	0.002450	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952972	119952972	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:119952972C>T	uc010inb.3	+	3	3238	c.3042C>T	c.(3040-3042)gcC>gcT	p.A1014A	SYNPO2_uc010ina.3_Silent_p.A1014A|SYNPO2_uc003icm.4_Silent_p.A1014A|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.A942A|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	1014						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAATGCTGCCTCACCTACGA	0.562000														65			8		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9084244	9084244	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9084244G>A	uc002mkp.3	-	0	7775	c.7571C>T	c.(7570-7572)cCt>cTt	p.P2524L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2524	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTCCTGCAGGACTTGTCTT	0.512000														36			11		0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179395249	179395249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:179395249C>T	uc021vsy.1	-	306	98614	c.98389G>A	c.(98389-98391)Ggt>Agt	p.G32797S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26492S|TTN_uc021vta.1_Missense_Mutation_p.G26425S|TTN_uc021vtb.1_Missense_Mutation_p.G26300S|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33724	Ig-like 145.						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)			GACGTTCCACCTTCACCAGAA	0.358000														54			13		0	0	0.003163	0	0
SREBF1	6720	broad.mit.edu	37	17	17719280	17719280	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:17719280G>A	uc002gru.2	-	11	2471	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A	SREBF1_uc002grp.2_Silent_p.A378A|SREBF1_uc002grq.2_Silent_p.A278A|SREBF1_uc002grr.2_Silent_p.A505A|SREBF1_uc002grs.2_Silent_p.A735A|SREBF1_uc002grt.2_Silent_p.A789A|MIR33B_uc021trh.1_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	759					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GCCACTGCATGGCAGGAGGCA	0.647000														39			13		0	0	0.002450	0	0
ARIH2	10425	broad.mit.edu	37	3	49020677	49020677	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:49020677C>T	uc003cvb.3	+	15	1768	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	ARIH2_uc003cvc.3_Silent_p.L486L|ARIH2_uc003cvf.3_Silent_p.L404L|ARIH2_uc010hkl.3_Silent_p.L404L	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	486					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GAGGAGAACCCTGCTGAAAGA	0.562000														187			41		0	0	0.013114	0	0
NLRP5	126206	broad.mit.edu	37	19	56515323	56515323	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:56515323G>A	uc002qmj.3	+	1	304	c.304G>A	c.(304-306)Gag>Aag	p.E102K	NLRP5_uc002qmi.3_Missense_Mutation_p.E102K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	102	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTTTGAAATCGAGAATGCCAA	0.423000														47			11		0	0	0.010729	0	0
DNAH10	196385	broad.mit.edu	37	12	124289424	124289424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:124289424G>A	uc001uft.4	+	16	2495	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N	DNAH10_uc010tav.1_Missense_Mutation_p.D366N|DNAH10_uc010taw.1_Missense_Mutation_p.D309N	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	824	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGGCCAGCGACGTGGACCA	0.547000														121			30		0	0	0.012213	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767485	143767485	+	Silent	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:143767485A>G	uc001ejt.3	-	0	397	c.364T>C	c.(364-366)Ttg>Ctg	p.L122L		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	122	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.W121*(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TTGCCATCCAACCACTCAGTC	0.483000														421			53		0	0	0.014410	0	0
OR6K3	391114	broad.mit.edu	37	1	158687706	158687706	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:158687706G>A	uc021pbn.1	-	0	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R66S(1)|p.S83F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTCCAGAAAGGAAAATATACT	0.408000														75			26		0	0	0.003954	0	0
TMPO	7112	broad.mit.edu	37	12	98938241	98938241	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:98938241C>T	uc001tfj.3	+	5	1100	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfk.3_Intron	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.	269	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.R269C(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGAACATTTTCGTATAGATGG	0.303000														20			7		0	0	0.004482	0	0
CHST10	9486	broad.mit.edu	37	2	101023068	101023068	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:101023068A>G	uc002tam.3	-	2	468	c.70T>C	c.(70-72)Ttc>Ctc	p.F24L		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	24					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AACGTGATGAACTTGCTAGCC	0.473000														221			63		0	0	0.014410	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872049	108872049	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:108872049C>T	uc010ywo.2	+	3	421	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GGCCAGAAATCCCAAGGATTG	0.423000														52			11		0	0	0.013537	0	0
TRIM14	9830	broad.mit.edu	37	9	100857227	100857227	+	Missense_Mutation	SNP	C	G	G	rs149392923		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:100857227C>G	uc004ayd.2	-	3	640	c.622G>C	c.(622-624)Gtc>Ctc	p.V208L	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208L|TRIM14_uc004ayh.1_Missense_Mutation_p.V208L	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	208						cytoplasm|intracellular	zinc ion binding	p.V208I(2)|p.P207L(1)|p.P207P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCTTGACGGGCTCAAAG	0.582000														69			23		0	0	0.003330	0	0
CNGB1	1258	broad.mit.edu	37	16	57996902	57996902	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:57996902G>C	uc002emt.2	-	4	422	c.357C>G	c.(355-357)caC>caG	p.H119Q	CNGB1_uc010cdh.2_Missense_Mutation_p.H119Q|CNGB1_uc002emu.2_Missense_Mutation_p.H119Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	119					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCGTGATGCTGTGAACAGGCT	0.667000														51			5		0	0	0.001168	0	0
CD79A	973	broad.mit.edu	37	19	42381431	42381431	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:42381431C>T	uc002orv.3	+	0	242	c.57C>T	c.(55-57)ttC>ttT	p.F19F	CD79A_uc002oru.3_Silent_p.F19F	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	19					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	p.L18L(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCCTCCTCTTCCTGCTGTCTG	0.607000			"""O, S"""		DLBCL									50			14		0	0	0.002450	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449031	89449031	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:89449031G>A	uc021opo.1	-	0	479	c.479C>T	c.(478-480)cCt>cTt	p.P160L	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.P160L|RBMXL1_uc001dms.3_Missense_Mutation_p.P160L	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	160							RNA binding|nucleotide binding										CTTAGGAGAAGGACCCCCACT	0.493000														109			35		0	0	0.004289	0	0
MYO18A	399687	broad.mit.edu	37	17	27493524	27493524	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:27493524G>A	uc002hdt.1	-	1	593	c.435C>T	c.(433-435)agC>agT	p.S145S	MYO18A_uc010csa.1_Silent_p.S145S|MYO18A_uc002hdu.1_Silent_p.S145S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	145					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTCATCCCGGCTACGCTGGG	0.627000														19			10		0	0	0.008291	0	0
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:40001459C>T	uc001rmb.2	-	2	1604	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323000														60			18		0	0	0.010504	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093854	143093854	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:143093854G>A	uc003qjd.3	-	4	2765	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGGGATCCATGAAATATTCTC	0.473000														82			23		0	0	0.012319	0	0
ACSL6	23305	broad.mit.edu	37	5	131290046	131290046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:131290046G>A	uc003kvx.2	-	20	2159	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ACSL6_uc003kvv.1_Intron|ACSL6_uc003kwb.3_Missense_Mutation_p.H649Y|ACSL6_uc003kvy.2_Missense_Mutation_p.H684Y|ACSL6_uc003kvz.2_Missense_Mutation_p.H584Y|ACSL6_uc021ydh.1_Missense_Mutation_p.H584Y|ACSL6_uc010jdo.2_Missense_Mutation_p.H659Y|ACSL6_uc003kwa.2_Missense_Mutation_p.H670Y|ACSL6_uc003kvw.2_Missense_Mutation_p.H305Y|ACSL6_uc010jdn.2_Missense_Mutation_p.H674Y	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	659					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTCAGAATGGATGTGAATG	0.363000														23			8		0	0	0.008291	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761657	13761657	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13761657G>A	uc001rbt.2	-	8	2069	c.1890C>T	c.(1888-1890)atC>atT	p.I630I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	630					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGACACCATGATCTTGGAGG	0.512000														56			11		0	0	0.010729	0	0
FAT4	79633	broad.mit.edu	37	4	126408537	126408537	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:126408537G>A	uc003ifj.4	+	15	12854	c.12854G>A	c.(12853-12855)gGa>gAa	p.G4285E	FAT4_uc011cgp.2_Missense_Mutation_p.G2526E|FAT4_uc003ifi.1_Missense_Mutation_p.G1763E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4285	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCGATGCAGGAATTGCTGGG	0.323000														46			18		0	0	0.008871	0	0
MRPL46	26589	broad.mit.edu	37	15	89003039	89003039	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:89003039G>A	uc002bmj.2	-	3	670	c.645C>T	c.(643-645)ttC>ttT	p.F215F	MRPL46_uc002bmi.1_3'UTR	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	215						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGGGGAACTTGAATGTGTAGT	0.468000														34			11		0	0	0.008291	0	0
C15orf2	23742	broad.mit.edu	37	15	24922699	24922699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:24922699C>T	uc001ywo.3	+	0	2159	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	562					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)		ACAAACGCATCTGCCCACCTA	0.483000														78			28		0	0	0.004656	0	0
OR9A2	135924	broad.mit.edu	37	7	142724010	142724010	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:142724010G>A	uc003wcc.1	-	0	210	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTGTGACCAGGATCTCCAGGG	0.468000														76			21		0	0	0.012319	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:24884069G>A	uc001isb.2	-	19	4250	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1254	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000														26			8		0	0	0.004482	0	0
TMEM202	338949	broad.mit.edu	37	15	72691128	72691128	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:72691128C>T	uc002auq.3	+	1	216	c.216C>T	c.(214-216)atC>atT	p.I72I	TMEM202_uc002aur.3_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	72						integral to membrane		p.I72I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TAATGCTGATCGCCATGTCCC	0.522000														56			13		0	0	0.013537	0	0
PCDH18	54510	broad.mit.edu	37	4	138449647	138449647	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:138449647C>T	uc003ihe.4	-	2	3112	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	PCDH18_uc003ihf.4_Missense_Mutation_p.G901R|PCDH18_uc011cgz.2_Missense_Mutation_p.G120R|PCDH18_uc003ihg.4_Missense_Mutation_p.G688R|PCDH18_uc011cha.2_Missense_Mutation_p.G89R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	909	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATTCTTCCATCTGTGAGA	0.418000														131			36		0	0	0.005524	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217789	44217789	+	Silent	SNP	C	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:44217789C>A	uc003oxa.1	+	4	630	c.546C>A	c.(544-546)atC>atA	p.I182I	HSP90AB1_uc011dvr.1_Silent_p.I172I|HSP90AB1_uc003oxb.1_Silent_p.I182I|HSP90AB1_uc011dvs.1_Silent_p.I2I|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	182					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAAAGTGATCCTCCATCTTA	0.438000														75			16		0.00400662	0.00461886	0.004007	1	0
ESRRB	2103	broad.mit.edu	37	14	76906080	76906080	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:76906080G>A	uc001xsr.3	+	3	755	c.384G>A	c.(382-384)aaG>aaA	p.K128K	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.K128K	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTTCTTCAAGAGGACTATCC	0.647000														18			8		0	0	0.006214	0	0
ZNF599	148103	broad.mit.edu	37	19	35251284	35251284	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:35251284G>A	uc010edn.1	-	3	810	c.422C>T	c.(421-423)cCc>cTc	p.P141L	ZNF599_uc010edm.2_Missense_Mutation_p.P104L	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTCTTTGTGGGGGTTTGTTCC	0.453000														99			29		0	0	0.003271	0	0
XDH	7498	broad.mit.edu	37	2	31562483	31562483	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:31562483G>A	uc002rnv.1	-	33	3725	c.3646C>T	c.(3646-3648)Ccc>Tcc	p.P1216S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1216					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCCCCTCGGGGGAATAGTGT	0.612000														54			9		0	0	0.008291	0	0
CDH23	64072	broad.mit.edu	37	10	73494026	73494026	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:73494026C>T	uc001jrx.4	+	31	4518	c.4128C>T	c.(4126-4128)gaC>gaT	p.D1376D	C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Silent_p.D186D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1378	Cadherin 13.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGGTGGACCGTGAGAAGG	0.602000														11			5		0	0	0.001168	0	0
HUWE1	10075	broad.mit.edu	37	X	53617393	53617393	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:53617393G>A	uc004dsp.3	-	34	4564	c.4162C>T	c.(4162-4164)Cca>Tca	p.P1388S	HUWE1_uc004dsn.3_Missense_Mutation_p.P213S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1388					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCCATTGGAATATCCTGT	0.433000														72			30		0	0	0.013726	0	0
C17orf75	64149	broad.mit.edu	37	17	30661605	30661605	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:30661605G>A	uc002hhg.3	-	7	824	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA.	252					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGTCCTTGAAGACTGGCCACA	0.478000														19			4		0	0	0.009096	0	0
SUPT5H	6829	broad.mit.edu	37	19	39948936	39948936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:39948936G>A	uc002olo.4	+	4	489	c.310G>A	c.(310-312)Gag>Aag	p.E104K	SUPT5H_uc002olp.4_Missense_Mutation_p.E104K|SUPT5H_uc002olq.4_Intron|SUPT5H_uc002oln.4_Missense_Mutation_p.E104K|SUPT5H_uc002olr.4_Missense_Mutation_p.E104K	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	104	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAAGTAGAAGAGATTGAAGG	0.532000														120			35		0	0	0.004289	0	0
MYOM1	8736	broad.mit.edu	37	18	3214983	3214983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:3214983G>A	uc002klp.3	-	1	573	c.239C>T	c.(238-240)tCt>tTt	p.S80F	MYOM1_uc002klq.3_Missense_Mutation_p.S80F	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	80						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTGACTTCAGAGCTCAGGGC	0.672000														21			12		0	0	0.001855	0	0
DUSP26	78986	broad.mit.edu	37	8	33454954	33454954	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:33454954C>T	uc003xjp.3	-	1	413	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	DUSP26_uc003xjq.3_Missense_Mutation_p.R27Q	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	27						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R27*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CCCTCGAGTTCGAACAGGAGA	0.537000														45			17		0	0	0.007413	0	0
ACTR3	10096	broad.mit.edu	37	2	114691884	114691884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:114691884C>T	uc002tkx.1	+	5	781	c.461C>T	c.(460-462)aCc>aTc	p.T154I	ACTR3_uc010yyc.1_Missense_Mutation_p.T92I|ACTR3_uc010yyd.1_Missense_Mutation_p.T103I	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	154					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GCATCTTGGACCTCAAGACAA	0.393000														192			42		0	0	0.011902	0	0
KCNK13	56659	broad.mit.edu	37	14	90650623	90650623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:90650623G>A	uc001xye.1	+	1	945	c.503G>A	c.(502-504)cGa>cAa	p.R168Q		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	168						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R168*(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCGGAGACGAGGGGCCCTG	0.607000														65			14		0	0	0.001855	0	0
COL4A4	1286	broad.mit.edu	37	2	227895314	227895314	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:227895314C>T	uc021vxr.1	-	40	3919	c.3818_splice	c.e40-1	p.G1273_splice	COL4A4_uc021vxs.1_Splice_Site_p.G1273_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1273	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCAGGTGCTCCTGACCACAG	0.527000														33			10		0	0	0.006214	0	0
CACHD1	57685	broad.mit.edu	37	1	65129383	65129383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:65129383C>T	uc001dbo.1	+	13	1909	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S	CACHD1_uc001dbp.1_Missense_Mutation_p.P357S|CACHD1_uc001dbq.1_Missense_Mutation_p.P357S|CACHD1_uc010opa.1_5'Flank	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	653					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTCAGAAAGTCCCACCATCAT	0.527000														184			36		0	0	0.004289	0	0
CCL26	10344	broad.mit.edu	37	7	75401322	75401322	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:75401322C>T	uc003udt.1	-	3	182	c.74_splice	c.e3-1	p.R25_splice		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	Homo sapiens chemokine (C-C motif) ligand 26 (CCL26), mRNA.	25					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCACTCCCACCTAAAAATCAG	0.552000														40			8		0	0	0.008291	0	0
KIAA0284	283638	broad.mit.edu	37	14	105349500	105349500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:105349500C>T	uc001yps.3	+	6	802	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S	KIAA0284_uc010axb.3_Missense_Mutation_p.P166S	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	236						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GACCCCGCAGCCGTCGCAGCC	0.716000														10			4		0	0	0.009096	0	0
PPARA	5465	broad.mit.edu	37	22	46611088	46611088	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:46611088C>T	uc003bhb.1	+	2	350	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PPARA_uc003bgw.1_Missense_Mutation_p.S76L|PPARA_uc003bgx.1_Missense_Mutation_p.S76L|PPARA_uc010hab.1_Missense_Mutation_p.S76L|PPARA_uc003bha.3_Missense_Mutation_p.S76L|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	76					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCACCAGCTTCGAGCCCCTCC	0.547000														29			6		0	0	0.001168	0	0
GOT2	2806	broad.mit.edu	37	16	58753135	58753135	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:58753135C>A	uc002eof.1	-	3	514	c.400G>T	c.(400-402)Gga>Tga	p.G134*	GOT2_uc010vim.1_Nonsense_Mutation_p.G91*	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	134					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCTCCAGTTCCAGAAATGGTC	0.493000														69			13		4.7546e-09	5.55636e-09	0.004007	1	0
CD99	4267	broad.mit.edu	37	X	2609464	2609464	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:2609464C>T	uc004cqm.3	+	0	237	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CD99_uc010nda.3_Silent_p.A21A|CD99_uc004cqn.3_Non-coding_Transcript	NM_002414	NP_002405	P14209	CD99_HUMAN	Homo sapiens CD99 molecule (CD99), transcript variant 1, mRNA.	21					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TGGTCGCCGCCCCGGGTGAGC	0.771000														4			3		0	0	0.004672	0	0
STARD6	147323	broad.mit.edu	37	18	51858171	51858171	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:51858171C>T	uc010xdt.2	-	3	326	c.326G>A	c.(325-327)cGa>cAa	p.R109Q		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	109	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GATAAAGTCTCGAGGGGAAAT	0.378000														37			7		0	0	0.004482	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119293172	119293172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:119293172G>A	uc004esl.4	+	1	521	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001099685	NP_115887	P0C7M4	RHF2B_HUMAN	Homo sapiens Rhox homeobox family, member 2B (RHOXF2B), mRNA.	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CGACCAGAGCGAGAAGGAACC	0.667000														11			6		0	0	0.006214	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63842813	63842813	+	Missense_Mutation	SNP	C	G	G	rs146316789		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:63842813C>G	uc001xgd.1	-	13	1908	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	PPP2R5E_uc010tsf.1_Missense_Mutation_p.E364Q|PPP2R5E_uc010tsg.1_Missense_Mutation_p.E364Q|PPP2R5E_uc010tsh.1_Missense_Mutation_p.E435Q|PPP2R5E_uc001xge.2_Missense_Mutation_p.E440Q	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	440					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CGCTCCTTTTCTTTCTTTTTC	0.333000														39			18		0	0	0.008871	0	0
KPNA6	23633	broad.mit.edu	37	1	32620255	32620255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:32620255C>T	uc010ogy.2	+	1	113	c.86C>T	c.(85-87)cCt>cTt	p.P29L	KPNA6_uc001bug.3_Missense_Mutation_p.P24L|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.P21L	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	24	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTCTAAACCCTGAAGAAATG	0.428000														36			9		0	0	0.004482	0	0
ZNF217	7764	broad.mit.edu	37	20	52198100	52198100	+	Silent	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:52198100A>G	uc002xwq.4	-	0	1608	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	ZNF217_uc010gij.1_Silent_p.P414P	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	422					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGGCGAGGTCAGGAGAACACG	0.632000														46			11		0	0	0.010729	0	0
XKR3	150165	broad.mit.edu	37	22	17288712	17288712	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:17288712G>A	uc002zlv.3	-	1	350	c.252C>T	c.(250-252)atC>atT	p.I84I	XKR3_uc011agf.2_Silent_p.I84I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	84						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAAACATCAGGATAATTTGAT	0.333000														42			8		0	0	0.003080	0	0
MATN1	4146	broad.mit.edu	37	1	31188783	31188783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:31188783C>T	uc001brz.3	-	4	1214	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	LOC100129196_uc001bsb.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA.	394	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGCAGCATCATTAATGTAG	0.572000														41			8		0	0	0.003080	0	0
CDH11	1009	broad.mit.edu	37	16	65016033	65016033	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:65016033C>T	uc002eoi.3	-	7	1605	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.E391K|CDH11_uc010vin.2_Missense_Mutation_p.E265K|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E391D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTTGGACTTCGTGGATGTAA	0.502000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				87			23		0	0	0.014323	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208725947	208725947	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:208725947T>C	uc002vcl.2	-	6	2480	c.1990A>G	c.(1990-1992)Att>Gtt	p.I664V		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	664					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAAATTTAATGACCTTGCCC	0.448000														75			27		0	0	0.010818	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132415	59132415	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:59132415G>A	uc010rks.2	+	0	484	c.484G>A	c.(484-486)Ggt>Agt	p.G162S		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATTCCAAATTGGTGCTTTGCT	0.458000														82			13		0	0	0.002450	0	0
COASY	80347	broad.mit.edu	37	17	40717008	40717008	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:40717008C>T	uc010cyj.3	+	6	1534	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	COASY_uc002hzz.3_Silent_p.L415L|COASY_uc002iab.3_Silent_p.L120L|COASY_uc002iad.3_Silent_p.L415L|COASY_uc002iac.3_Silent_p.L415L|COASY_uc002iae.3_Silent_p.L210L|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	415	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGATATTCTCCATAAAGATG	0.498000														74			21		0	0	0.003330	0	0
RTL1	388015	broad.mit.edu	37	14	101348394	101348394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:101348394G>A	uc010txj.1	-	0	2791	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F	MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	911										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCGATAGGGGAGATGTTGCG	0.592000														14			7		0	0	0.001984	0	0
POLR3B	55703	broad.mit.edu	37	12	106851069	106851069	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:106851069C>T	uc001tlp.3	+	20	2669	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	POLR3B_uc001tlq.3_Missense_Mutation_p.S758F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	816					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTATTTGTTCTCCAGGTAAA	0.333000														30			12		0	0	0.001855	0	0
PSEN2	5664	broad.mit.edu	37	1	227069743	227069743	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:227069743C>T	uc009xeo.1	+	3	562	c.135C>T	c.(133-135)gcC>gcT	p.A45A	PSEN2_uc009xep.1_Silent_p.A45A|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	45					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				AGAACACTGCCCAGTGGGTAG	0.607000														29			22		0	0	0.003330	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991284	35991284	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:35991284G>A	uc003jjv.2	-	0	252	c.59C>T	c.(58-60)tCa>tTa	p.S20L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.S20L|UGT3A1_uc011cor.2_Missense_Mutation_p.S20L|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	20						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGCCTCTGAGAGCAGGAC	0.607000														90			17		0	0	0.006122	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118358	118358	+	RNA	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrGL000205.1:118358A>G	uc002kgk.4	+	0		c.1736A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCCAGGGAAGACATCATCCCT	0.557000														51			8		0	0	0.004482	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15884945	15884945	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:15884945C>T	uc010xor.1	-	1	137	c.117G>A	c.(115-117)ctG>ctA	p.L39L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		AGGCGGGCGTCAGCATCCGAC	0.552000														12			6		0	0	0.001984	0	0
VPS13D	55187	broad.mit.edu	37	1	12416532	12416533	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:12416532_12416533AG>GA	uc001atv.3	+	48	10090_10091	c.9949_9950AG>GA	c.(9949-9951)agc>GAc	p.S3317D	VPS13D_uc001atw.3_Missense_Mutation_p.S3292D|VPS13D_uc001atx.3_Missense_Mutation_p.S2504D	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3316					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGGCCCGTAGCCTGAGTCCT	0.490000														42			11		0	0	0.004672	0	0
MTDH	92140	broad.mit.edu	37	8	98703286	98703286	+	Silent	SNP	C	T	T	rs142598802		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:98703286C>T	uc003yhz.3	+	5	1246	c.918C>T	c.(916-918)tcC>tcT	p.S306S	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	306					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S306S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AGTGGAACTCCGTTTCACCTG	0.468000														88			12		0	0	0.010729	0	0
FUK	197258	broad.mit.edu	37	16	70500048	70500048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:70500048C>T	uc010cft.3	+	4	453	c.395C>T	c.(394-396)cCc>cTc	p.P132L	FUK_uc010vmb.1_Missense_Mutation_p.P83L|FUK_uc002eyy.3_Missense_Mutation_p.P100L|FUK_uc002eyz.3_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	100						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CGAGACTTCCCCTTTGATGAC	0.622000														54			18		0	0	0.006122	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066807	158066807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:158066807C>T	uc003qqt.3	+	5	1288	c.791C>T	c.(790-792)tCc>tTc	p.S264F	ZDHHC14_uc003qqs.3_Missense_Mutation_p.S264F|ZDHHC14_uc010kjn.3_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	264						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TCTGTCTGGTCCATCGTTGGC	0.557000														32			4		0	0	0.000602	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816952	133816952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:133816952C>T	uc003ytt.3	+	7	1139	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	PHF20L1_uc003ytr.3_Nonsense_Mutation_p.Q246*|PHF20L1_uc010mdv.3_Nonsense_Mutation_p.Q246*|PHF20L1_uc003yts.3_Nonsense_Mutation_p.Q272*|PHF20L1_uc011lja.2_Nonsense_Mutation_p.Q246*|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytv.3_Nonsense_Mutation_p.Q111*	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	272							nucleic acid binding|zinc ion binding	p.K272N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAACTCGTTTCAGGCAAAGAG	0.363000														50			10		0	0	0.010729	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299780	103299780	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:103299780C>T	uc002tca.3	+	3	1207	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	355						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTCAGAAATCCTACACGACCA	0.418000														63			15		0	0	0.003163	0	0
ILDR2	387597	broad.mit.edu	37	1	166896409	166896409	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:166896409C>T	uc001gdx.2	-	6	945	c.889G>A	c.(889-891)Ggt>Agt	p.G297S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	297						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATCCGGTAACCTTTGCGAACT	0.448000														109			15		0	0	0.006122	0	0
CABIN1	23523	broad.mit.edu	37	22	24574103	24574103	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:24574103C>T	uc002zzi.1	+	36	6729	c.6602C>T	c.(6601-6603)tCc>tTc	p.S2201F	CABIN1_uc021wnc.1_Missense_Mutation_p.S2151F|CABIN1_uc002zzj.1_Missense_Mutation_p.S2122F|CABIN1_uc002zzl.2_Missense_Mutation_p.S2201F|CABIN1_uc010gul.1_Missense_Mutation_p.S139F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	2201					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGGAGACATCCAGCCAGGAG	0.652000														53			13		0	0	0.001855	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918568	51918568	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:51918568C>T	uc002pwo.3	-	6	1419	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	SIGLEC10_uc002pwp.3_Silent_p.L341L|SIGLEC10_uc021uyl.1_Silent_p.L316L|SIGLEC10_uc002pwq.3_Silent_p.L341L|SIGLEC10_uc010ycz.2_Silent_p.L351L|SIGLEC10_uc002pws.2_Silent_p.L251L|SIGLEC10_uc002pwr.3_Silent_p.L399L|SIGLEC10_uc010ycy.2_Silent_p.L309L|SIGLEC10_uc010eow.3_Silent_p.L211L|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	399	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGAGGGGCTCAGAACCTGTC	0.662000														44			9		0	0	0.006214	0	0
CUL9	23113	broad.mit.edu	37	6	43153909	43153909	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:43153909C>T	uc003ouk.3	+	3	1042	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	CUL9_uc003ouj.1_Missense_Mutation_p.L323F|CUL9_uc003oul.3_Missense_Mutation_p.L323F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	323					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCCCGGAACCTCAGCGAACA	0.607000														95			14		0	0	0.003163	0	0
HHIPL1	84439	broad.mit.edu	37	14	100123373	100123373	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:100123373C>G	uc010avs.3	+	2	1004	c.939C>G	c.(937-939)caC>caG	p.H313Q	HHIPL1_uc001ygl.1_Missense_Mutation_p.H313Q	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	313					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCTCAAACCACAACGGGGGCC	0.532000														197			53		0	0	0.014410	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498622	118498622	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:118498622C>T	uc001ptr.2	+	6	1436	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PHLDB1_uc010ryh.1_Silent_p.I360I|PHLDB1_uc001pts.3_Silent_p.I361I|PHLDB1_uc001ptt.3_Silent_p.I361I|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Silent_p.I161I|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	361										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTGGCCATCAGCCTGAGTG	0.632000														26			12		0	0	0.010729	0	0
TMX1	81542	broad.mit.edu	37	14	51716269	51716269	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:51716269C>T	uc001wza.4	+	5	698	c.573C>T	c.(571-573)tcC>tcT	p.S191S	TMX1_uc010aoa.3_Silent_p.S107S	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA.	191					DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CTCTGTTTTCCGGACTGTTAT	0.328000														117			34		0	0	0.003271	0	0
LGSN	51557	broad.mit.edu	37	6	63995556	63995556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:63995556C>T	uc003peh.3	-	2	300	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	LGSN_uc003pei.3_Missense_Mutation_p.R89Q|LGSN_uc003pej.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	89					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.R89*(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGCTTCAAATCGTACAAACTG	0.433000														20			10		0	0	0.010729	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853932	64853932	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:64853932C>T	uc001ocq.1	+	3	425	c.260C>T	c.(259-261)cCc>cTc	p.P87L	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	87					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCCAGCTACCCCGAAACACG	0.607000														187			42		0	0	0.013114	0	0
USP54	159195	broad.mit.edu	37	10	75277230	75277230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:75277230G>A	uc001juo.3	-	17	2971	c.2954C>T	c.(2953-2955)tCt>tTt	p.S985F	USP54_uc010qkk.2_Missense_Mutation_p.S167F|USP54_uc001juk.3_Missense_Mutation_p.S73F|USP54_uc001jul.3_Missense_Mutation_p.S73F|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	985					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTATGATGAGAATTCTTCTC	0.502000														39			6		0	0	0.001984	0	0
APCDD1	147495	broad.mit.edu	37	18	10471953	10471953	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:10471953C>T	uc002kom.4	+	2	1023	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	223					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ACCACAACCTCGACCACCTGG	0.572000														100			15		0	0	0.003163	0	0
CELSR2	1952	broad.mit.edu	37	1	109803705	109803705	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:109803705C>T	uc001dxa.4	+	2	4061	c.4000C>T	c.(4000-4002)Ccg>Tcg	p.P1334S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1334	EGF-like 3; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGTTGCACCCCGGGTGTCTG	0.587000														267			78		0	0	0.014410	0	0
CCS	9973	broad.mit.edu	37	11	66372865	66372865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:66372865G>A	uc001oir.3	+	5	588	c.545G>A	c.(544-546)aGa>aAa	p.R182K		NM_005125	NP_005116	O14618	CCS_HUMAN	Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA.	182	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCATCTTCAGAATGGAGGAT	0.567000														43			6		0	0	0.001984	0	0
FAM160B2	64760	broad.mit.edu	37	8	21955654	21955654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:21955654G>A	uc011kyx.2	+	5	652	c.601G>A	c.(601-603)Gac>Aac	p.D201N	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	201										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCCACGGGGACAAGGACTG	0.597000														4			4		0	0	0.009096	0	0
VPS13D	55187	broad.mit.edu	37	1	12445374	12445374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:12445374C>T	uc001atv.3	+	58	11567	c.11426C>T	c.(11425-11427)cCt>cTt	p.P3809L	VPS13D_uc001atw.3_Missense_Mutation_p.P3784L|VPS13D_uc001atx.3_Missense_Mutation_p.P2996L|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3808					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGAACTTCCTGTCACCGAA	0.373000														23			8		0	0	0.004482	0	0
DHX33	56919	broad.mit.edu	37	17	5347750	5347750	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:5347750G>A	uc002gca.3	-	11	2100	c.1899C>T	c.(1897-1899)gcC>gcT	p.A633A	DHX33_uc002gbz.3_Silent_p.A404A|DHX33_uc002gcb.3_Silent_p.A460A|DHX33_uc010clf.3_Silent_p.A468A	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	633						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGAAGCTCGGCGGTGCTCA	0.622000														30			8		0	0	0.003080	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993302	140993302	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:140993302C>T	uc004fbt.3	+	3	436	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	38							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)					TCTCCAGATTCCCCAGAGTTC	0.582000										HNSCC(15;0.026)				93			22		0	0	0.002780	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034755	107034755	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:107034755C>T	uc001ysz.3	-	1	354	c.325G>A	c.(325-327)Gac>Aac	p.D109N	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		ATGGCGGTGTCCGAGGCCTTC	0.582000														147			26		0	0	0.005443	0	0
LYPD4	147719	broad.mit.edu	37	19	42342325	42342326	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:42342325_42342326CC>TT	uc002orp.1	-	3	1205_1206	c.221_222GG>AA	c.(220-222)agg>aAA	p.R74K	LYPD4_uc002orq.1_Missense_Mutation_p.R39K	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	74						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCACAACTCCCCTTGCAGTCCC	0.579000														26			8		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152275409	152275409	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:152275409C>T	uc001ezu.1	-	2	11989	c.11953G>A	c.(11953-11955)Gat>Aat	p.D3985N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3985					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3985H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCATAATCATAATCTGCA	0.398000									Ichthyosis					88			31		0	0	0.010818	0	0
BBS1	582	broad.mit.edu	37	11	66283164	66283164	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:66283164G>A	uc001oii.1	+	6	669	c.591_splice	c.e6-1	p.R197_splice	BBS1_uc010rpf.1_Splice_Site|BBS1_uc001oil.1_Splice_Site_p.R160_splice|BBS1_uc010rpg.1_Intron|BBS1_uc001oij.1_Splice_Site_p.R160_splice|BBS1_uc001oik.1_Splice_Site_p.R84_splice	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	160					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TTCCTTGCAGGGAGACGGCAG	0.622000									Bardet-Biedl syndrome					49			15		0	0	0.006122	0	0
NOC2L	26155	broad.mit.edu	37	1	880950	880950	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:880950G>A	uc009vjq.3	-	16	2060	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	NOC2L_uc001aby.4_Silent_p.L464L|NOC2L_uc001abz.4_Silent_p.L667L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	667	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGGTCAAAGAGGTCTTTAA	0.562000														56			15		0	0	0.003163	0	0
IQCF3	401067	broad.mit.edu	37	3	51863708	51863708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:51863708G>A	uc021wyy.1	+	5	834	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.E16K	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	16										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATGCAGTAGAAAGACAGAG	0.532000														19			9		0	0	0.004482	0	0
SLC6A13	6540	broad.mit.edu	37	12	369078	369078	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:369078C>T	uc001qic.2	-	1	231	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC6A13_uc009zdj.2_Silent_p.G47G|SLC6A13_uc010sdl.2_Silent_p.G47G|SLC6A13_uc001qid.2_Silent_p.G47G	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	47					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)			CAATGATCTCCCCAGCCACTG	0.542000														161			30		0	0	0.013726	0	0
MALAT1	378938	broad.mit.edu	37	11	65265605	65265605	+	RNA	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65265605C>T	uc010roh.2	+	0		c.373C>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		AAAAAGCAGACCCAGAGCAGT	0.458000														33			10		0	0	0.008291	0	0
E2F3	1871	broad.mit.edu	37	6	20483065	20483065	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:20483065C>T	uc003nda.2	+	3	1125	c.798C>T	c.(796-798)ctC>ctT	p.L266L	E2F3_uc003ncz.2_Silent_p.L260L|E2F3_uc021ymj.1_Silent_p.L135L	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	266	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGACCGAGCTCAGTCAGGAAG	0.493000														323			69		0	0	0.014410	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														72			10		0	0	0.008291	0	0
ST13	6767	broad.mit.edu	37	22	41223122	41223122	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:41223122G>A	uc003aze.3	-	10	1102	c.959C>T	c.(958-960)cCa>cTa	p.P320L	ST13_uc011aow.2_Missense_Mutation_p.P310L	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	320	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						AAGAACCTCTGGATCACTAAG	0.458000														44			21		0	0	0.012319	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														57			4		0	0	0.009096	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852279	20852279	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:20852279C>T	uc021xmt.1	-	2	295	c.175G>A	c.(175-177)Gat>Aat	p.D59N	KCNIP4_uc003gqe.2_Missense_Mutation_p.D42N|KCNIP4_uc003gqf.1_Missense_Mutation_p.D38N|KCNIP4_uc003gqg.1_5'UTR|KCNIP4_uc003gqh.1_Missense_Mutation_p.D34N|KCNIP4_uc003gqi.1_5'UTR|KCNIP4_uc021xmu.1_Missense_Mutation_p.D25N|KCNIP4_uc021xms.1_Missense_Mutation_p.D22N	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	59						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCCAGTTCATCTTCCACGCTG	0.498000														28			6		0	0	0.001168	0	0
KIF21A	55605	broad.mit.edu	37	12	39696939	39696939	+	Splice_Site	SNP	T	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:39696939T>G	uc001rly.3	-	36	4981	c.4561_splice	c.e36-1	p.M1521_splice	KIF21A_uc001rlv.3_Splice_Site_p.M466_splice|KIF21A_uc001rlw.3_Splice_Site_p.M791_splice|KIF21A_uc001rlx.3_Splice_Site_p.M1508_splice|KIF21A_uc001rlz.3_Splice_Site_p.M1468_splice|KIF21A_uc010skl.2_Splice_Site_p.M1484_splice|KIF21A_uc001rlt.3_Splice_Site_p.M141_splice|KIF21A_uc001rlu.3_Splice_Site_p.M141_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1521					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATCAAACATCTAAAAAGGTAG	0.378000														22			5		0	0	0.001168	0	0
RERE	473	broad.mit.edu	37	1	8420694	8420694	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:8420694G>A	uc001ape.3	-	18	3683	c.2873C>T	c.(2872-2874)tCc>tTc	p.S958F	RERE_uc001apf.3_Missense_Mutation_p.S958F|RERE_uc010nzx.1_Missense_Mutation_p.S690F|RERE_uc001apd.3_Missense_Mutation_p.S404F	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	958	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCATTCATGGAGAAGGGTGA	0.682000														34			8		0	0	0.006214	0	0
RASD2	23551	broad.mit.edu	37	22	35943021	35943021	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:35943021C>T	uc003anx.3	+	1	370	c.165C>T	c.(163-165)ttC>ttT	p.F55F	RASD2_uc003any.3_Silent_p.F55F	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	55					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TCGAGGACTTCCACCGTAAGG	0.602000														28			8		0	0	0.003080	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420829	55420829	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:55420829C>T	uc001sgp.4	+	1	984	c.606C>T	c.(604-606)ttC>ttT	p.F202F	NEUROD4_uc021qyr.1_Silent_p.F202F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	202					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCCACAACTTCAACTATCAGT	0.498000														47			13		0	0	0.001855	0	0
ZNF705A	440077	broad.mit.edu	37	12	8330019	8330019	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:8330019G>A	uc001qud.1	+	4	815	c.743G>A	c.(742-744)aGa>aAa	p.R248K	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AGACATGAGAGAACTCACCTT	0.388000														126			33		0	0	0.011902	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														35			5		0	0	0.000602	0	0
ZBBX	79740	broad.mit.edu	37	3	167023544	167023544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:167023544C>T	uc011bpc.2	-	16	1949	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	ZBBX_uc003feq.3_Missense_Mutation_p.E509K|ZBBX_uc003fep.3_Missense_Mutation_p.E538K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	538						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGAGCTTTTTCTAAATCTCTA	0.338000														36			4		0	0	0.000602	0	0
SCEL	8796	broad.mit.edu	37	13	78214852	78214852	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:78214852C>T	uc001vki.3	+	30	2050	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L	SCEL_uc010thx.2_Missense_Mutation_p.P585L|SCEL_uc001vkj.3_Missense_Mutation_p.P607L	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	627	LIM zinc-binding.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGCCGAAAACCCTTGGGTGTA	0.303000														17			4		0	0	0.009096	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316689	30316689	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:30316689C>T	uc009xle.2	-	2	2525	c.2388G>A	c.(2386-2388)ggG>ggA	p.G796G	KIAA1462_uc001iux.3_Silent_p.G796G|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.G658G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	796								p.G796>?(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCGCTTAGGCCCAGGGTGGG	0.627000														91			31		0	0	0.006230	0	0
PNISR	25957	broad.mit.edu	37	6	99849093	99849093	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:99849093T>A	uc003ppo.4	-	11	1969	c.1741A>T	c.(1741-1743)Aaa>Taa	p.K581*	PNISR_uc021zdc.1_5'Flank|PNISR_uc021zdd.1_5'UTR|PNISR_uc003ppp.4_Nonsense_Mutation_p.K581*|PNISR_uc011eag.2_Nonsense_Mutation_p.K581*	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	581						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCTCTATTTTAATTCTGCGA	0.408000														86			22		0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13700912	13700912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13700912C>T	uc003jfd.2	-	77	13602	c.13560G>A	c.(13558-13560)tgG>tgA	p.W4520*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W688*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4520					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTCCTTCATCCATTTGGTGA	0.483000									Kartagener syndrome					84			24		0	0	0.005443	0	0
TTC29	83894	broad.mit.edu	37	4	147796069	147796069	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:147796069C>T	uc003ikx.4	-	7	926	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TTC29_uc003ikw.4_Missense_Mutation_p.E200K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E200K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	200							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAGCAGCTTCCAGAAGCTGA	0.423000														13			7		0	0	0.006214	0	0
TTLL13	440307	broad.mit.edu	37	15	90799000	90799000	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:90799000T>A	uc002bpd.1	+	4	719	c.431T>A	c.(430-432)tTc>tAc	p.F144Y	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	144	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATCAACCACTTCCCTGGCATG	0.522000														143			39		0	0	0.005524	0	0
HCK	3055	broad.mit.edu	37	20	30672196	30672196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:30672196G>A	uc002wxh.3	+	7	922	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	HCK_uc010gdy.3_Missense_Mutation_p.G209R|HCK_uc021wbv.1_Missense_Mutation_p.G208R|HCK_uc002wxi.3_Missense_Mutation_p.G207R	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	229	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.W229L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTTCCAGAGGGGAACGACGG	0.597000														13			4		0	0	0.000602	0	0
MYH2	4620	broad.mit.edu	37	17	10432356	10432356	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:10432356C>T	uc010coi.3	-	26	3523	c.3395G>A	c.(3394-3396)cGg>cAg	p.R1132Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1132Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1132					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCGGGAGGCCCGCTCTGCCTC	0.602000														57			20		0	0	0.014323	0	0
AGRN	375790	broad.mit.edu	37	1	979730	979730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:979730G>A	uc001ack.2	+	11	2215	c.2165G>A	c.(2164-2166)gGg>gAg	p.G722E		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	722	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.G722V(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCTCAGATGGGGTCACCTAC	0.692000														20			5		0	0	0.001984	0	0
CBFB	865	broad.mit.edu	37	16	67132620	67132620	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:67132620G>A	uc002era.3	+	5	795	c.534G>A	c.(532-534)aaG>aaA	p.K178K	CBFB_uc002erb.3_Missense_Mutation_p.R168K|CBFB_uc010vja.2_Missense_Mutation_p.R58K	NM_001755	NP_001746	Q13951	PEBB_HUMAN	Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA.	178					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		CAGGCAAGAAGACAACAAGAC	0.373000			T	MYH11	AML									60			12		0	0	0.002450	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696528	153696528	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:153696528C>T	uc004flm.3	+	21	4097	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1308					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGTGCTCTTCCCGGGCATCG	0.637000														33			19		0	0	0.008871	0	0
GSG1	83445	broad.mit.edu	37	12	13241841	13241841	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13241841C>T	uc001rbn.3	-	3	620	c.436G>A	c.(436-438)Gag>Aag	p.E146K	GSG1_uc001rbl.3_Missense_Mutation_p.E133K|GSG1_uc001rbj.3_Missense_Mutation_p.E110K|GSG1_uc001rbk.3_Missense_Mutation_p.E110K|GSG1_uc001rbm.3_Missense_Mutation_p.E110K|GSG1_uc001rbo.3_Missense_Mutation_p.E146K|GSG1_uc001rbp.3_Missense_Mutation_p.E123K|GSG1_uc001rbq.2_Missense_Mutation_p.E146K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	133						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CGGCACCTCTCCCCTGAAACA	0.517000														43			7		0	0	0.004482	0	0
OGDHL	55753	broad.mit.edu	37	10	50944543	50944543	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:50944543G>A	uc009xog.3	-	19	2729	c.2695C>T	c.(2695-2697)Cct>Tct	p.P899S	OGDHL_uc001jie.3_Missense_Mutation_p.P872S|OGDHL_uc010qgt.2_Missense_Mutation_p.P815S|OGDHL_uc010qgu.2_Missense_Mutation_p.P663S	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	872					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCATCTTCAGGAATCACCCGC	0.642000														57			12		0	0	0.013537	0	0
ITSN1	6453	broad.mit.edu	37	21	35094928	35094928	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:35094928T>A	uc002yta.1	+	3	425	c.157T>A	c.(157-159)Tta>Ata	p.L53I	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_5'UTR|ITSN1_uc002ysy.3_Missense_Mutation_p.L53I|ITSN1_uc002ysx.3_Missense_Mutation_p.L53I|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.L53I|ITSN1_uc010gmg.3_Missense_Mutation_p.L53I|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.L53I|ITSN1_uc010gmi.3_Missense_Mutation_p.L53I|ITSN1_uc002ytb.1_Missense_Mutation_p.L53I|ITSN1_uc002ytc.1_Missense_Mutation_p.L53I|ITSN1_uc010gmk.3_Missense_Mutation_p.L53I|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.L53I|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_5'UTR	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	53	EF-hand 1.|EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCAATCTGGGTTACCTCAACC	0.294000														48			14		0	0	0.003163	0	0
FLRT1	23769	broad.mit.edu	37	11	63885183	63885183	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:63885183G>A	uc021qks.1	+	0	1444	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E482K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	454	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CTCCATCACGGAGACCTTGGT	0.627000														42			12		0	0	0.001855	0	0
ERP27	121506	broad.mit.edu	37	12	15067692	15067692	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:15067692T>A	uc001rco.3	-	6	820	c.799A>T	c.(799-801)Aag>Tag	p.K267*		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	267						endoplasmic reticulum lumen		p.K267N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTGGAGTCTTTCCTTCTGAT	0.363000														33			16		0	0	0.006122	0	0
GPR110	266977	broad.mit.edu	37	6	46977388	46977388	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:46977388T>C	uc003oyt.3	-	10	1982	c.1783A>G	c.(1783-1785)Atc>Gtc	p.I595V	GPR110_uc011dwl.2_Missense_Mutation_p.I283V	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	595					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCAATGGAGATACCCAGTCCC	0.433000														42			23		0	0	0.014323	0	0
MLF1IP	79682	broad.mit.edu	37	4	185646136	185646136	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:185646136G>C	uc003iwq.3	-	3	365	c.295C>G	c.(295-297)Cct>Gct	p.P99A	MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Missense_Mutation_p.P99A	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	99					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		p.P99S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TTTCCTGGAGGAGTTGAAGAG	0.353000														42			11		0	0	0.010729	0	0
WIPF2	147179	broad.mit.edu	37	17	38430097	38430097	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:38430097C>T	uc002hug.1	+	5	1266	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	WIPF2_uc002huh.1_Silent_p.P192P|WIPF2_uc010cww.1_Silent_p.P192P|WIPF2_uc002hui.1_Silent_p.P342P|WIPF2_uc010cwx.1_Silent_p.P84P|WIPF2_uc010cwy.1_Silent_p.P342P	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	342	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTCCCCCTCCCCCACCACCAT	0.612000										HNSCC(43;0.11)				39			10		0	0	0.008291	0	0
FAM91A1	157769	broad.mit.edu	37	8	124797968	124797968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:124797968G>A	uc003yqv.3	+	10	1010	c.949G>A	c.(949-951)Gta>Ata	p.V317I	FAM91A1_uc011lik.1_Missense_Mutation_p.V317I|FAM91A1_uc011lil.2_Missense_Mutation_p.V75I	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	317								p.S316F(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGTTCCATCCGTAAACAGATT	0.289000														97			18		0	0	0.007413	0	0
ERBB3	2065	broad.mit.edu	37	12	56495582	56495582	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:56495582G>A	uc001sjh.3	+	27	4048	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Missense_Mutation_p.E615K|ERBB3_uc010sqc.2_Missense_Mutation_p.E1199K|ERBB3_uc009zok.3_Missense_Mutation_p.E523K|ERBB3_uc001sjk.3_Missense_Mutation_p.E499K|ERBB3_uc001sjl.3_Missense_Mutation_p.E378K|PA2G4_uc001sjm.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	1258					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)			AACTCCAGATGAAGACTATGA	0.557000														54			15		0	0	0.004007	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649560	20649560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:20649560C>T	uc001ytg.3	-	17	2658	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.G650E|HERC2P3_uc010tyy.2_Missense_Mutation_p.G650E					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.G650E(2)		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						GTCGTAATTTCCTTCTTTCCC	0.592000														283			23		0	0	0.003954	0	0
MYC	4609	broad.mit.edu	37	8	128752989	128752989	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:128752989G>A	uc003ysi.3	+	2	1675	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_002467	NP_002458	P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	369	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAGGAGGAACGAGCTAAAACG	0.517000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""									125			134		0	0	0.014410	0	0
TRIT1	54802	broad.mit.edu	37	1	40313247	40313247	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:40313247C>T	uc021olz.1	-	6	915	c.901G>A	c.(901-903)Gag>Aag	p.E301K	TRIT1_uc001ced.4_Intron|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Missense_Mutation_p.E55K|TRIT1_uc001ceh.4_Missense_Mutation_p.E55K|TRIT1_uc009vvv.3_Missense_Mutation_p.E160K|TRIT1_uc001cei.4_Missense_Mutation_p.E55K|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Intron|TRIT1_uc001cek.3_Intron|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.E219K|TRIT1_uc001cen.3_Missense_Mutation_p.E55K|TRIT1_uc001ceo.3_Missense_Mutation_p.E55K|TRIT1_uc001cep.3_Missense_Mutation_p.E55K	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	301					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTACTAGTCTCCAGTGTGCAT	0.458000														104			23		0	0	0.003954	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207724	116207724	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:116207724G>A	uc021pyx.1	-	14	1749	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	ABLIM1_uc021pyw.1_Silent_p.F550F|ABLIM1_uc021pyy.1_Silent_p.F518F|ABLIM1_uc021pyz.1_Silent_p.F484F|ABLIM1_uc021pza.1_Silent_p.F490F|ABLIM1_uc021pze.1_Intron|ABLIM1_uc021pzf.1_Silent_p.F514F|ABLIM1_uc021pyv.1_Silent_p.F220F|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Silent_p.F166F|ABLIM1_uc021pzd.1_Silent_p.F363F|ABLIM1_uc021pyu.1_Silent_p.F227F	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	550					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGCTGCTGGGAACTTGGAAA	0.537000														76			16		0	0	0.004007	0	0
OR51B5	282763	broad.mit.edu	37	11	5364734	5364734	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:5364734G>A	uc001map.1	-	0	21	c.21C>T	c.(19-21)tcC>tcT	p.S7S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.S7S	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGGGATGGGAGCTGCCGC	0.428000														20			6		0	0	0.001168	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564360	46564360	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:46564360G>A	uc001ncv.2	-	7	1251	c.937C>T	c.(937-939)Cct>Tct	p.P313S	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.P403S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P313S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P403S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P313S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P403S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	403					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TACCTAGAAGGGTGGCTAGAC	0.592000														55			17		0	0	0.007413	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245940	1245940	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:1245940C>T	uc002cks.3	+	4	808	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CACNA1H_uc002ckt.3_Missense_Mutation_p.S187L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	187					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ATGGAGTACTCGTTGGACGGA	0.682000														50			16		0	0	0.006122	0	0
EMR1	2015	broad.mit.edu	37	19	6921867	6921867	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:6921867C>T	uc002mfw.3	+	13	1802	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	EMR1_uc010dvc.3_Silent_p.A588A|EMR1_uc010dvb.3_Silent_p.A536A|EMR1_uc010xji.2_Silent_p.A447A|EMR1_uc010xjj.2_Silent_p.A411A	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	588	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAAATCTTGCCGTTATCATGG	0.463000														72			21		0	0	0.002780	0	0
ADCY5	111	broad.mit.edu	37	3	123005552	123005552	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:123005552C>T	uc003egh.2	-	19	3637	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	ADCY5_uc021xdd.1_Missense_Mutation_p.G863S|ADCY5_uc003egg.2_Missense_Mutation_p.G871S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1213					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCGGGTACACCGGTGCTGTCC	0.642000											OREG0004289|OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ADCY5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		52			18		0	0	0.006122	0	0
CELA2B	51032	broad.mit.edu	37	1	15808871	15808871	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:15808871C>T	uc001awl.3	+	3	364	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	113	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						ACTGGAACTCCGACCAGGTCT	0.567000														69			22		0	0	0.012319	0	0
ZHX2	22882	broad.mit.edu	37	8	123964360	123964360	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:123964360G>A	uc022bag.1	+	0	610	c.610G>A	c.(610-612)Gag>Aag	p.E204K	ZHX2_uc003ypk.1_Missense_Mutation_p.E204K	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	204	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E204V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAGAAGCCCGAGGAGATCAC	0.582000														203			26		0	0	0.006320	0	0
PELP1	27043	broad.mit.edu	37	17	4576956	4576956	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:4576956G>A	uc002fyi.4	-	13	1822	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	PELP1_uc010vsf.2_Silent_p.T385T	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	532					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ACATGAGGATGGTCCGGCTGA	0.567000														64			16		0	0	0.004007	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167048	42167048	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:42167048G>C	uc001zos.3	-	22	4722	c.4389C>G	c.(4387-4389)caC>caG	p.H1463Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1498					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACCTCCGGAGGTGCTTCTGGG	0.637000														15			9		0	0	0.006214	0	0
SCN10A	6336	broad.mit.edu	37	3	38753839	38753839	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:38753839T>G	uc003ciq.3	-	21	3902	c.3902A>C	c.(3901-3903)aAc>aCc	p.N1301T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1301					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCGAAGAGGTTCACACCCAT	0.502000														66			22		0	0	0.012319	0	0
COL11A2	1302	broad.mit.edu	37	6	33136330	33136330	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:33136330C>T	uc003ocx.1	-	53	4154	c.3926G>A	c.(3925-3927)gGg>gAg	p.G1309E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1223E|COL11A2_uc003ocz.1_Missense_Mutation_p.G1202E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1309	Triple-helical region.				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	p.G1309R(1)		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						TCCATTCTCCCCGGTGGGACC	0.632000														35			4		0	0	0.000602	0	0
GON4L	54856	broad.mit.edu	37	1	155630502	155630502	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:155630502G>A	uc010pgi.2	-	9	1805	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	GON4L_uc021paz.1_Missense_Mutation_p.P380L|GON4L_uc010pgg.2_Missense_Mutation_p.P285L|GON4L_uc010pgh.2_Missense_Mutation_p.P389L|GON4L_uc009wqt.3_Missense_Mutation_p.P369L|GON4L_uc001flh.3_Missense_Mutation_p.P518L|GON4L_uc001fll.3_Missense_Mutation_p.P400L|GON4L_uc001flk.3_Missense_Mutation_p.P389L|GON4L_uc001flm.3_Missense_Mutation_p.P389L|GON4L_uc009wqu.3_Missense_Mutation_p.P233L|GON4L_uc009wqv.3_Missense_Mutation_p.P117L|GON4L_uc009wqw.3_Missense_Mutation_p.P369L|GON4L_uc001flj.3_Missense_Mutation_p.P380L|GON4L_uc001fli.3_Missense_Mutation_p.P400L|GON4L_uc001flo.3_Missense_Mutation_p.P334L|GON4L_uc001fln.3_Missense_Mutation_p.P446L|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.P400L	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	989	Asp-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCCTTCTTGGGGAAACGGTC	0.527000														84			35		0	0	0.003271	0	0
LSG1	55341	broad.mit.edu	37	3	194373738	194373738	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:194373738G>A	uc003fui.3	-	7	1208	c.893C>T	c.(892-894)cCc>cTc	p.P298L		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	298					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATCCGTTGTGGGATTTTCACT	0.498000														51			13		0	0	0.013537	0	0
RLTPR	146206	broad.mit.edu	37	16	67688253	67688253	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:67688253C>T	uc002etn.3	+	30	3360	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	RLTPR_uc010vjr.2_Silent_p.D1044D	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1080										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCGAGGAGGACCCGGCCACTG	0.662000														14			4		0	0	0.000602	0	0
ABCB11	8647	broad.mit.edu	37	2	169842630	169842630	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:169842630G>A	uc002ueo.1	-	9	1199	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	358	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGGACAAGGGTTCCTGGTGT	0.428000														8			5		0	0	0.003080	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716235	13716235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13716235C>T	uc001rbt.2	-	12	4116	c.3937G>A	c.(3937-3939)Gaa>Aaa	p.E1313K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1313					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.E1313K(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGGCTTCTTCCTTCTGCAGG	0.587000														92			25		0	0	0.004656	0	0
TYW5	129450	broad.mit.edu	37	2	200801132	200801132	+	Silent	SNP	T	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:200801132T>C	uc002uvi.4	-	5	836	c.570A>G	c.(568-570)ttA>ttG	p.L190L	TYW5_uc002uvj.4_Silent_p.L27L|TYW5_uc002uvk.4_Intron|TYW5_uc010fss.3_Silent_p.L27L	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	Homo sapiens tRNA-yW synthesizing protein 5 (TYW5), transcript variant 1, mRNA.	190	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						CCATACCTTTTAAATATAAAT	0.308000														71			33		0	0	0.004289	0	0
CSMD3	114788	broad.mit.edu	37	8	114031299	114031299	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:114031299G>A	uc003ynu.3	-	5	1186	c.1027C>T	c.(1027-1029)Caa>Taa	p.Q343*	CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q303*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q343*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.Q343*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	343	CUB 2.					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						AGTATACCTTGATAGGGAGCA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				92			13		0	0	0.002450	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				112			21		0	0	0.012319	0	0
HCN1	348980	broad.mit.edu	37	5	45396729	45396729	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:45396729G>A	uc003jok.3	-	3	1120	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	365						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCTGACTGGGGCTTGGGCTC	0.493000														39			8		0	0	0.003080	0	0
PTGS1	5742	broad.mit.edu	37	9	125148726	125148726	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:125148726G>A	uc004bmg.1	+	9	1145	c.1010_splice	c.e9-1	p.G337_splice	PTGS1_uc011lys.1_Splice_Site_p.G312_splice|PTGS1_uc010mwb.1_Splice_Site_p.G228_splice|PTGS1_uc004bmf.1_Splice_Site_p.G337_splice|PTGS1_uc004bmh.1_Splice_Site_p.G228_splice|PTGS1_uc011lyt.1_Splice_Site_p.G228_splice	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	337					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CCTGCCCAGGGGAGACCATCA	0.527000														87			26		0	0	0.003954	0	0
SPOCD1	90853	broad.mit.edu	37	1	32263882	32263882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:32263882C>T	uc001bts.1	-	8	2129	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N	SPOCD1_uc001btu.3_Missense_Mutation_p.D691N|SPOCD1_uc001btv.3_Missense_Mutation_p.D184N|SPOCD1_uc021oks.1_5'UTR|SPOCD1_uc001btw.1_Missense_Mutation_p.D35N	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	691	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGCACCAGGTCGTAGGGGGTG	0.647000														96			13		0	0	0.004007	0	0
CCDC68	80323	broad.mit.edu	37	18	52596077	52596077	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:52596077C>T	uc002lfs.3	-	7	809	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	CCDC68_uc002lft.3_Missense_Mutation_p.E213K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	213										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTTGTTTTCCAAAGACAGT	0.378000														18			5		0	0	0.000602	0	0
ZBED2	79413	broad.mit.edu	37	3	111312682	111312682	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:111312682C>T	uc003dxy.3	-	1	1268	c.367G>A	c.(367-369)Gat>Aat	p.D123N	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.D123N	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	123							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GGCCTTGGATCCTGGCGCTGC	0.627000														32			10		0	0	0.010729	0	0
ARMC5	79798	broad.mit.edu	37	16	31473806	31473806	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:31473806T>G	uc010vfn.2	+	4	1347	c.1223T>G	c.(1222-1224)cTg>cGg	p.L408R	ARMC5_uc010vfo.2_Missense_Mutation_p.L345R|ARMC5_uc002ecc.3_Missense_Mutation_p.L313R|ARMC5_uc002eca.4_Missense_Mutation_p.L313R|ARMC5_uc002ecb.2_Missense_Mutation_p.L313R|ARMC5_uc010vfp.2_Intron	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	313							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCAGGGCCTGATTCGGCCT	0.652000														20			6		0	0	0.003080	0	0
ITIH1	3697	broad.mit.edu	37	3	52818369	52818369	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:52818369T>G	uc003dfs.3	+	10	1313	c.1283T>G	c.(1282-1284)tTc>tGc	p.F428C	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.F286C|ITIH1_uc021wzg.1_Missense_Mutation_p.F140C|ITIH1_uc021wzh.1_Missense_Mutation_p.F140C|ITIH1_uc003dft.3_Missense_Mutation_p.F29C	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	428	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGGGGCAGGTTCCCGCTCTAC	0.582000														24			5		0	0	0.000602	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190975	42190975	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:42190975C>T	uc002ori.1	-	1	244	c.242G>A	c.(241-243)gGa>gAa	p.G81E	CEACAM7_uc010ehx.2_Missense_Mutation_p.G81E|CEACAM7_uc010ehy.1_Missense_Mutation_p.G81E	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	81	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTTTACATATCCTATAATTCG	0.463000														121			38		0	0	0.004878	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240757	60240758	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:60240757_60240758GG>AA	uc001vht.3	-	27	3761_3762	c.3542_3543CC>TT	c.(3541-3543)ccc>cTT	p.P1181L	DIAPH3_uc001vhs.3_Non-coding_Transcript	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1181					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTTCAACTTCGGGAACTGATTC	0.361000														38			10		0	0	0.004672	0	0
RCSD1	92241	broad.mit.edu	37	1	167666945	167666945	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:167666945C>T	uc001gem.3	+	5	1271	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	RCSD1_uc010pli.2_Missense_Mutation_p.P332S	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	362										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CGGAGATGTCCCCAAGCAGGA	0.607000														20			4		0	0	0.001168	0	0
PAPPA	5069	broad.mit.edu	37	9	119124940	119124940	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:119124940G>A	uc004bjn.3	+	17	4798	c.4417G>A	c.(4417-4419)Gag>Aag	p.E1473K	PAPPA_uc011lxq.2_Missense_Mutation_p.E848K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1473	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E1473K(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTCTGCCAGGAGATGCAAGG	0.537000														43			14		0	0	0.002450	0	0
CDR2	1039	broad.mit.edu	37	16	22358777	22358777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:22358777C>T	uc002dkn.3	-	4	1182	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	292						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACATCTCTTCCAGCAGGCTC	0.517000														17			10		0	0	0.006214	0	0
CSN2	1447	broad.mit.edu	37	4	70823381	70823381	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:70823381G>A	uc003hes.4	-	4	299	c.286C>T	c.(286-288)Cct>Tct	p.P96S	CSN2_uc003het.4_Missense_Mutation_p.P95S	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	96					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						ATTATTTCAGGCTGAGGGACA	0.473000														26			8		0	0	0.004482	0	0
TNS4	84951	broad.mit.edu	37	17	38641257	38641257	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:38641257G>A	uc010cxb.3	-	4	1455	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	431					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCCCTGGCGGGACCTGGAGAC	0.542000														27			7		0	0	0.003080	0	0
CIITA	4261	broad.mit.edu	37	16	11000964	11000964	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:11000964C>T	uc002daj.4	+	10	1751	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	CIITA_uc002dai.4_Nonsense_Mutation_p.R539*|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Nonsense_Mutation_p.R539*|CIITA_uc002dah.2_Nonsense_Mutation_p.R491*|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	539	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAAGCTGCTCCGAGGTTGCAC	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									23			4		0	0	0.000602	0	0
PCDH1	5097	broad.mit.edu	37	5	141233812	141233812	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:141233812C>T	uc003llp.3	-	4	3626	c.3509G>A	c.(3508-3510)gGc>gAc	p.G1170D		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.A1169A(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTGGGGCTGCCGGCGCCCGC	0.672000														11			4		0	0	0.009096	0	0
C3orf15	89876	broad.mit.edu	37	3	119458102	119458102	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:119458102G>A	uc003ede.4	+	12	1539	c.1462_splice	c.e12-1	p.E488_splice	C3orf15_uc010hqy.2_Splice_Site_p.E488_splice|C3orf15_uc010hqz.3_Splice_Site_p.E426_splice|C3orf15_uc011bjd.2_Splice_Site_p.E362_splice|C3orf15_uc011bje.2_Splice_Site_p.E468_splice|C3orf15_uc010hra.2_Splice_Site_p.E249_splice	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	324						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GTTCTTTTAGGAAGAAGAAGA	0.438000														153			39		0	0	0.006999	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417610	121417610	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:121417610C>T	uc010hrc.3	-	12	1886	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	GOLGB1_uc003eei.4_Missense_Mutation_p.G582E|GOLGB1_uc003eej.4_Missense_Mutation_p.G548E|GOLGB1_uc021xcy.1_Missense_Mutation_p.G507E|GOLGB1_uc011bjm.1_Missense_Mutation_p.G468E|GOLGB1_uc010hrd.1_Missense_Mutation_p.G546E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	582					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCCCTTTTTCCCTGGAGCTG	0.358000														34			4		0	0	0.009096	0	0
NEB	4703	broad.mit.edu	37	2	152520064	152520064	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:152520064C>T	uc021vrb.1	-	42	5790	c.5761G>A	c.(5761-5763)Gat>Aat	p.D1921N	NEB_uc002txu.3_Missense_Mutation_p.D1921N|NEB_uc021vrc.1_Missense_Mutation_p.D1921N|NEB_uc010fnx.3_Missense_Mutation_p.D1921N|NEB_uc021vrd.1_Missense_Mutation_p.D1921N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1921					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACGTACATCACTTTGAATC	0.408000														19			4		0	0	0.009096	0	0
abParts	0	broad.mit.edu	37	14	107211365	107211365	+	RNA	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:107211365G>A	uc021ser.1	-	14		c.1110C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.507000														150			43		0	0	0.014410	0	0
COL1A1	1277	broad.mit.edu	37	17	48264038	48264038	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:48264038G>A	uc002iqm.3	-	47	3903	c.3777C>T	c.(3775-3777)tgC>tgT	p.C1259C	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1259	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGAGGTCACGGCAGGTGCGGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							60			15		0	0	0.002450	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464243	141464243	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:141464243G>A	uc003vwp.1	+	0	347	c.285G>A	c.(283-285)ctG>ctA	p.L95L		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	95					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CAAACCATCTGAGCATTTGGC	0.423000														134			41		0	0	0.011902	0	0
NLRP7	199713	broad.mit.edu	37	19	55450300	55450300	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:55450300G>A	uc002qih.4	-	3	1963	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	NLRP7_uc010esk.3_Silent_p.F629F|NLRP7_uc002qig.4_Silent_p.F629F|NLRP7_uc002qii.4_Silent_p.F629F|NLRP7_uc010esl.3_Silent_p.F657F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	629							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AATTCTCCAGGAACACCCCCT	0.453000														49			18		0	0	0.006122	0	0
RUSC2	9853	broad.mit.edu	37	9	35558458	35558458	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:35558458G>A	uc003zww.3	+	8	3491	c.3236_splice	c.e8-1	p.G1079_splice	RUSC2_uc010mkq.3_Splice_Site|RUSC2_uc003zwx.4_Splice_Site_p.G1079_splice	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1079	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCCTCCCAGGCCCATCCAC	0.572000														163			30		0	0	0.003755	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715897	19715897	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:19715897A>C	uc002ykw.3	-	11	1385	c.1354T>G	c.(1354-1356)Ttc>Gtc	p.F452V		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	452	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCCTTTTGGAAAACTGTCTTC	0.289000														58			14		0	0	0.002450	0	0
RB1	5925	broad.mit.edu	37	13	49027168	49027168	+	Nonsense_Mutation	SNP	C	T	T	rs121913305		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:49027168C>T	uc001vcb.3	+	17	1901	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	579	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R579*(10)|p.?(10)|p.R579fs*29(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCAAAGGACCGAGAAGGACC	0.338000	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				20			6		0	0	0.001984	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077096	45077096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:45077096G>A	uc003cok.4	+	2	385	c.289G>A	c.(289-291)Gac>Aac	p.D97N		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	97	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCAGCGAGGACTGCATCTC	0.632000														45			6		0	0	0.001984	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092519	202092519	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:202092519T>A	uc001gxj.3	+	0	491	c.428T>A	c.(427-429)gTg>gAg	p.V143E		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	143						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GTGTTTGCGGTGGGCATTGTG	0.592000														49			17		0	0	0.004990	0	0
BAG3	9531	broad.mit.edu	37	10	121436223	121436223	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:121436223C>T	uc001lem.3	+	3	1463	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	BAG3_uc001lel.3_Missense_Mutation_p.S385F	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	386					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GTCCCCTCTTCCCCCAAGAGT	0.607000														46			15		0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:168101234C>T	uc002udx.3	+	8	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S936L|XIRP2_uc010fpq.3_Missense_Mutation_p.S889L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	936					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						GAAAAAGTTTCGTTAATGACC	0.368000														14			5		0	0	0.001984	0	0
DPP6	1804	broad.mit.edu	37	7	154564580	154564580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:154564580C>T	uc003wlk.3	+	9	1193	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	DPP6_uc003wli.3_Missense_Mutation_p.S291F|DPP6_uc003wlm.3_Missense_Mutation_p.S293F|DPP6_uc011kvq.2_Missense_Mutation_p.S248F	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	355					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)			CCCAGCATTTCCCTACACGTT	0.468000														25			6		0	0	0.001984	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834259	125834259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:125834259C>T	uc001uhe.1	+	1	322	c.314C>T	c.(313-315)tCt>tTt	p.S105F	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	105						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)		CTGTTGACATCTACAGCCTTT	0.478000														103			35		0	0	0.003755	0	0
PNPLA5	150379	broad.mit.edu	37	22	44285393	44285393	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:44285393T>C	uc003beg.3	-	3	651	c.518A>G	c.(517-519)aAc>aGc	p.N173S	PNPLA5_uc003beh.3_Intron|PNPLA5_uc021wqw.1_Missense_Mutation_p.N173S|PNPLA5_uc021wqx.1_Intron|PNPLA5_uc011aqc.2_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	173	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGGCAAGTTGTTGCTCAGAGC	0.632000														106			22		0	0	0.014323	0	0
JHDM1D	80853	broad.mit.edu	37	7	139827337	139827337	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:139827337G>T	uc003vvm.3	-	4	610	c.606C>A	c.(604-606)gaC>gaA	p.D202E		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	202					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCATTTTGCTGTCTGCCTGCC	0.368000														108			27		1.55811e-20	1.83162e-20	0.008361	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130413953	130413953	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:130413953C>T	uc003qbt.3	+	16	1758	c.1582C>T	c.(1582-1584)Cac>Tac	p.H528Y	L3MBTL3_uc003qbu.3_Missense_Mutation_p.H503Y	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	528					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCCTGATATTCACCCTGTAGG	0.403000														46			12		0	0	0.001855	0	0
SPRED2	200734	broad.mit.edu	37	2	65540935	65540935	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:65540935C>T	uc002sdr.4	-	5	1492	c.957G>A	c.(955-957)gaG>gaA	p.E319E	SPRED2_uc010fcw.3_Silent_p.E316E	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	319	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGCGGTTCTCCTCGTGGTTGA	0.667000														99			27		0	0	0.010818	0	0
LRP2BP	55805	broad.mit.edu	37	4	186296788	186296788	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:186296788C>T	uc003ixj.2	-	2	1121	c.309G>A	c.(307-309)ggG>ggA	p.G103G	LRP2BP_uc003ixk.2_Silent_p.G77G	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	103						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TGGTCCCCAGCCCATCATAGT	0.383000														55			15		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9064689	9064689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9064689G>A	uc002mkp.3	-	2	22961	c.22757C>T	c.(22756-22758)tCc>tTc	p.S7586F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7588	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7585T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGACATGGATGTTCTGCT	0.488000														72			19		0	0	0.010504	0	0
ERBB4	2066	broad.mit.edu	37	2	212522512	212522512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:212522512C>T	uc002veg.1	-	15	2011	c.1913G>A	c.(1912-1914)tGg>tAg	p.W638*	ERBB4_uc002veh.1_Nonsense_Mutation_p.W638*|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Nonsense_Mutation_p.W638*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	638					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.W638L(2)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGGCCCGTCCATGGGTAGTA	0.428000										TSP Lung(8;0.080)				73			14		0	0	0.003163	0	0
HDHD2	84064	broad.mit.edu	37	18	44656643	44656643	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:44656643G>A	uc002lcs.3	-	3	500	c.367C>T	c.(367-369)Cat>Tat	p.H123Y	HDHD2_uc002lct.3_Missense_Mutation_p.H33Y	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	123							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ATTTGATAATGAAAATGTTCT	0.343000														59			28		0	0	0.010818	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553770	53553770	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:53553770G>A	uc021onn.1	-	10	1939	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	SLC1A7_uc021onm.1_Missense_Mutation_p.P466L|SLC1A7_uc001cux.3_Missense_Mutation_p.P185S|SLC1A7_uc001cuy.3_Missense_Mutation_p.P532S|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	532						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACTTGAACGGGGACGTGGTGG	0.637000														33			13		0	0	0.003163	0	0
ABCB11	8647	broad.mit.edu	37	2	169801162	169801162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:169801162C>T	uc002ueo.1	-	20	2689	c.2563G>A	c.(2563-2565)Gga>Aga	p.G855R	ABCB11_uc010zda.1_Missense_Mutation_p.G297R|ABCB11_uc010zdb.1_Missense_Mutation_p.G331R	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	855	ABC transmembrane type-1 2.		G -> R (in ethinylestradiol/gestodene- induced cholestasis; loss of transport capacity for taurocholate).		bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTCAATGCTCCAGGGCTATTT	0.443000														44			12		0	0	0.002450	0	0
NDNF	79625	broad.mit.edu	37	4	121958404	121958404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:121958404G>A	uc003idq.1	-	3	1249	c.722C>T	c.(721-723)cCg>cTg	p.P241L		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	241								p.P241Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACCAGGTTTCGGTGCCATCAT	0.453000														37			4		0	0	0.009096	0	0
CCR2	729230	broad.mit.edu	37	3	46399721	46399721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:46399721G>A	uc003cpn.4	+	1	1188	c.703G>A	c.(703-705)Gag>Aag	p.E235K	CCR2_uc003cpm.4_Missense_Mutation_p.E235K|CCR2_uc021wxa.1_Missense_Mutation_p.E235K	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	235					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGTCGAAACGAGAAGAAGAG	0.468000														188			45		0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13841988	13841988	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13841988G>A	uc003jfd.2	-	32	5339	c.5297C>T	c.(5296-5298)tCc>tTc	p.S1766F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1766	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTTGAGAGGAAATTGACAG	0.333000									Kartagener syndrome					31			8		0	0	0.004482	0	0
ETV4	2118	broad.mit.edu	37	17	41607273	41607273	+	Missense_Mutation	SNP	C	G	G	rs147888887	by1000genomes	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:41607273C>G	uc002idw.3	-	9	1062	c.934G>C	c.(934-936)Gtt>Ctt	p.V312L	ETV4_uc002idv.3_Missense_Mutation_p.V35L|ETV4_uc010wih.2_Missense_Mutation_p.V258L|ETV4_uc010czh.3_Missense_Mutation_p.V311L|ETV4_uc010wii.2_Missense_Mutation_p.V273L|ETV4_uc002idx.3_Missense_Mutation_p.V312L|ETV4_uc010wij.2_Missense_Mutation_p.V273L	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	312					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TCAGGGACAACGCAGACATCA	0.512000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""									158			35		0	0	0.008740	0	0
CIT	11113	broad.mit.edu	37	12	120156162	120156162	+	Silent	SNP	C	T	T	rs140364771		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:120156162C>T	uc001txj.2	-	31	4112	c.4056G>A	c.(4054-4056)gcG>gcA	p.A1352A	CIT_uc001txh.2_Silent_p.A829A|CIT_uc001txi.2_Silent_p.A1310A	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1310					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTGCTGCCTCGCGGTGGCTG	0.642000														57			12		0	0	0.001855	0	0
IPO9	55705	broad.mit.edu	37	1	201828048	201828048	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:201828048T>G	uc001gwz.3	+	12	1444	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	465					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTGACAGTGTGAAAAATGGC	0.473000														53			11		0	0	0.010729	0	0
ZNF317	57693	broad.mit.edu	37	19	9270856	9270856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9270856C>T	uc002mku.3	+	6	840	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZNF317_uc002mkv.3_Missense_Mutation_p.P38S|ZNF317_uc002mkw.3_Missense_Mutation_p.P147S|ZNF317_uc002mkx.3_Missense_Mutation_p.P94S|ZNF317_uc002mky.3_Missense_Mutation_p.P62S	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGGCATGGACCCTCATCTCAC	0.552000														40			14		0	0	0.003163	0	0
TMEM67	91147	broad.mit.edu	37	8	94809639	94809639	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:94809639C>T	uc011lgk.2	+	19	2112	c.2041C>T	c.(2041-2043)Cag>Tag	p.Q681*	TMEM67_uc010maw.2_Nonsense_Mutation_p.Q387*|TMEM67_uc003yga.4_Nonsense_Mutation_p.Q600*|TMEM67_uc011lgl.2_Nonsense_Mutation_p.Q80*	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	681					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAATGAAATTCAGACTGTGAG	0.363000														83			12		0	0	0.010729	0	0
MLLT6	4302	broad.mit.edu	37	17	36873075	36873075	+	Silent	SNP	T	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:36873075T>C	uc002hqi.4	+	9	1505	c.1492T>C	c.(1492-1494)Ttg>Ctg	p.L498L	MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	498					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCCCCATCCTTGCCCAGTGC	0.667000			T	MLL	AL									9			3		0	0	0.004672	0	0
PAGE5	90737	broad.mit.edu	37	X	55247081	55247081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:55247081G>A	uc004duj.3	+	0	291	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	PAGE5_uc004duk.3_Intron	NM_130467	NP_001013453	Q96GU1	GGEE1_HUMAN	Homo sapiens P antigen family, member 5 (prostate associated) (PAGE5), transcript variant 1, mRNA.	17										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						AACGAGGGAGGAAGGTAGGCC	0.637000														6			4		0	0	0.009096	0	0
MBOAT1	154141	broad.mit.edu	37	6	20124763	20124763	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:20124763G>A	uc003ncx.1	-	7	988	c.783C>T	c.(781-783)acC>acT	p.T261T	MBOAT1_uc011dji.1_Silent_p.T112T	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	261					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGACAGGAAAGGTCTTCGTTA	0.478000														94			15		0	0	0.010504	0	0
OR13C8	138802	broad.mit.edu	37	9	107331456	107331457	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:107331456_107331457GG>AA	uc011lvo.2	+	0	8_9	c.8_9GG>AA	c.(7-9)agg>aAA	p.R3K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AATATGGAAAGGACCAACGATT	0.396000														74			7		0	0	0.004672	0	0
MOXD1	26002	broad.mit.edu	37	6	132645187	132645187	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:132645187C>T	uc003qdf.3	-	6	1095	c.996G>A	c.(994-996)agG>agA	p.R332R	MOXD1_uc003qde.3_Silent_p.R264R	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	332					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATCATATTTCCTTATATCCA	0.418000														35			10		0	0	0.008291	0	0
DNAH9	1770	broad.mit.edu	37	17	11535913	11535913	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:11535913A>T	uc002gne.3	+	7	1596	c.1528A>T	c.(1528-1530)Aat>Tat	p.N510Y		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	510	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACTTTGAAAATGACGTCTC	0.393000														48			10		0	0	0.008291	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840383	47840383	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:47840383A>T	uc003tny.2	-	53	8091	c.8057T>A	c.(8056-8058)tTc>tAc	p.F2686Y	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2686					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGCCCGGGGAAGGCGTCTGT	0.577000														91			17		0	0	0.010504	0	0
ANXA13	312	broad.mit.edu	37	8	124696873	124696873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:124696873G>A	uc003yqt.3	-	10	1004	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	ANXA13_uc003yqu.3_Missense_Mutation_p.R270C	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	270					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGACTATGCGAATCAACGTC	0.512000														126			14		0	0	0.004007	0	0
ADCY4	196883	broad.mit.edu	37	14	24800431	24800431	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:24800431C>T	uc001wow.3	-	4	1220	c.801G>A	c.(799-801)aaG>aaA	p.K267K	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.K267K|ADCY4_uc001woy.3_Silent_p.K267K	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	267					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTGGTGCCTCTTGACATAGA	0.602000														59			19		0	0	0.008871	0	0
PIGR	5284	broad.mit.edu	37	1	207110450	207110450	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:207110450G>A	uc001hez.3	-	3	1219	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	PIGR_uc009xbz.3_Silent_p.F345F	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	345	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTCATTGACGAAGAGTTGCC	0.582000														23			9		0	0	0.006214	0	0
PODN	127435	broad.mit.edu	37	1	53544333	53544333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:53544333C>T	uc001cuv.3	+	7	1463	c.1295C>T	c.(1294-1296)aCc>aTc	p.T432I	PODN_uc010onr.2_Missense_Mutation_p.T413I|PODN_uc010ons.2_Missense_Mutation_p.T290I|PODN_uc001cuw.3_Missense_Mutation_p.T413I	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	384					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCGTGCGCACCCTCATGATC	0.627000														90			25		0	0	0.002780	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101789	46101789	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:46101789G>A	uc002zfv.3	-	0	290	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	84	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGTCTGCAGAGGACGCTGGTG	0.642000														48			10		0	0	0.006214	0	0
ABCC3	8714	broad.mit.edu	37	17	48762092	48762092	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:48762092C>T	uc002isl.3	+	28	4216	c.4136C>T	c.(4135-4137)aCc>aTc	p.T1379I	ABCC3_uc002isn.3_Missense_Mutation_p.T133I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1379	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTCTCGGGGACCCTGCGCATG	0.617000														74			13		0	0	0.002450	0	0
IFNA16	3449	broad.mit.edu	37	9	21216974	21216974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:21216974C>T	uc003zor.1	-	0	337	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	111					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGAAAAGTTCAATGTAGAAT	0.488000														95			26		0	0	0.003954	0	0
SUN5	140732	broad.mit.edu	37	20	31573551	31573551	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:31573551G>A	uc002wyi.3	-	10	981	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	296	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CATAGATGACGAAGTCCTTGG	0.537000														42			8		0	0	0.006214	0	0
ACOT4	122970	broad.mit.edu	37	14	74062179	74062179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:74062179G>A	uc001xoo.3	+	2	1341	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	363					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCATTACATCGAGCCTCCTTA	0.517000														50			19		0	0	0.006122	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281594	103281594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:103281594G>A	uc002tca.3	+	2	931	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	263						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGCCAGATGAAAACCATTG	0.463000														86			28		0	0	0.007291	0	0
RTP3	83597	broad.mit.edu	37	3	46542110	46542110	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:46542110C>T	uc003cps.1	+	1	488	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	140					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTCCTATGATCAAGGACATCT	0.473000														92			24		0	0	0.003330	0	0
AL117485	0	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	C	C	rs5993363		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:18846025G>C	uc002zoe.3	+	4		c.2387G>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GACGTTGAAGGCTGCCTTCAG	0.647000														51			4		0	0	0.001168	0	0
ASPH	444	broad.mit.edu	37	8	62566152	62566152	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:62566152G>A	uc003xuj.3	-	3	659	c.390C>T	c.(388-390)ccC>ccT	p.P130P	ASPH_uc011leg.2_Silent_p.P101P|ASPH_uc003xuo.2_Silent_p.P130P|ASPH_uc003xul.3_Silent_p.P116P|ASPH_uc011lei.2_Silent_p.P116P|ASPH_uc011lej.2_Silent_p.P116P|ASPH_uc011leh.2_Silent_p.P116P|ASPH_uc003xum.3_Silent_p.P130P|ASPH_uc003xun.3_Silent_p.P130P|ASPH_uc011lek.2_Silent_p.P130P	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	130	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCTGCTCCTCGGGCTCAGTGT	0.517000														32			25		0	0	0.009535	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763520	62763520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:62763520C>T	uc009yon.3	-	5	987	c.866G>A	c.(865-867)gGa>gAa	p.G289E	SLC22A8_uc001nwn.1_Missense_Mutation_p.G80E|SLC22A8_uc009yom.3_Missense_Mutation_p.G166E|SLC22A8_uc001nwo.3_Missense_Mutation_p.G289E|SLC22A8_uc010rmm.2_Missense_Mutation_p.G198E|SLC22A8_uc001nwp.2_Missense_Mutation_p.G289E	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	289					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						GAGCCTTTCTCCCTCTTCCTT	0.582000														76			17		0	0	0.006122	0	0
NBPF7	343505	broad.mit.edu	37	1	120385063	120385063	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:120385063C>T	uc010oxk.2	-	1	952	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	111						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CACCTGAGCTCCTCAGCTTGC	0.542000														257			60		0	0	0.014410	0	0
HPX	3263	broad.mit.edu	37	11	6459666	6459666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:6459666G>A	uc001mdg.2	-	4	471	c.410C>T	c.(409-411)cCt>cTt	p.P137L	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	137	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGGGATTCCAGGAAATTCATC	0.488000														80			15		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348656	140348656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140348656C>T	uc003lii.3	+	0	2910	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.P769S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	769					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAGGATACCGCATGGCCT	0.527000														52			14		0	0	0.002450	0	0
POF1B	79983	broad.mit.edu	37	X	84622723	84622723	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:84622723G>A	uc004eer.2	-	2	477	c.331C>T	c.(331-333)Cta>Tta	p.L111L	POF1B_uc004ees.3_Silent_p.L111L	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	111							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GTTATATGTAGAGTACTTGGG	0.318000														22			8		0	0	0.008291	0	0
CCL20	6364	broad.mit.edu	37	2	228681022	228681022	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:228681022G>A	uc002vpl.2	+	3	262	c.192_splice	c.e3-1	p.I64_splice	CCL20_uc002vpm.2_Splice_Site_p.I63_splice	NM_004591	NP_004582	P78556	CCL20_HUMAN	Homo sapiens chemokine (C-C motif) ligand 20 (CCL20), transcript variant 1, mRNA.	64					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TGATTTTTCAGCTTTCACACA	0.333000														29			7		0	0	0.006214	0	0
FNDC7	163479	broad.mit.edu	37	1	109270531	109270531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:109270531G>A	uc001dvx.3	+	6	1213	c.1213G>A	c.(1213-1215)Gct>Act	p.A405T	FNDC7_uc010ova.2_Missense_Mutation_p.A172T	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	406	Fibronectin type-III 5.					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)		TGAAACCAAGGCTGTAGATGG	0.498000														67			21		0	0	0.010504	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360350	55360350	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:55360350A>G	uc003pcn.3	-	7	911	c.752T>C	c.(751-753)aTt>aCt	p.I251T	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.I221T|HMGCLL1_uc010jzx.3_Missense_Mutation_p.I122T|HMGCLL1_uc011dxc.2_Missense_Mutation_p.I189T|HMGCLL1_uc011dxd.2_Missense_Mutation_p.I118T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	251							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCCACTCCAATTGTGTCTCC	0.418000														28			18		0	0	0.007413	0	0
ACE	1636	broad.mit.edu	37	17	61568324	61568324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:61568324G>A	uc002jau.2	+	17	2685	c.2651G>A	c.(2650-2652)tGg>tAg	p.W884*	ACE_uc010wpj.2_Nonsense_Mutation_p.W310*|ACE_uc010ddv.2_Nonsense_Mutation_p.W111*|ACE_uc002jav.2_Nonsense_Mutation_p.W310*|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Nonsense_Mutation_p.W130*	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	884	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGGAACATGTGGGCGCAGACC	0.582000														96			23		0	0	0.006320	0	0
SLC43A3	29015	broad.mit.edu	37	11	57157409	57157409	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:57157409G>A	uc001nkc.3	-	1	83	c.9C>T	c.(7-9)ctC>ctT	p.L3L	SLC43A3_uc001nkd.3_Silent_p.L3L|SLC43A3_uc001nke.3_Silent_p.L283L	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAAGTAAGGGGAGTTTCATCT	0.428000														112			19		0	0	0.006122	0	0
CDSN	1041	broad.mit.edu	37	6	31084629	31084629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:31084629C>T	uc003nsm.2	-	1	819	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	255	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TCCACCACCACCACCACAGGC	0.652000														30			9		0	0	0.006214	0	0
LRFN4	78999	broad.mit.edu	37	11	66626527	66626527	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:66626527C>T	uc001ojr.3	+	0	1652	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	438	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						GTTCCAAATCCAGTACAACAG	0.672000														70			20		0	0	0.014323	0	0
VPS13A	23230	broad.mit.edu	37	9	79922920	79922920	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:79922920G>T	uc004akr.3	+	34	4280	c.4020G>T	c.(4018-4020)tgG>tgT	p.W1340C	VPS13A_uc004akp.4_Missense_Mutation_p.W1340C|VPS13A_uc004akq.4_Missense_Mutation_p.W1340C|VPS13A_uc004aks.3_Missense_Mutation_p.W1301C|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1340					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAATATATGGTATGAAAAAG	0.343000														36			14		9.05144e-12	1.06194e-11	0.001855	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531209	140531209	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140531209C>T	uc003lir.3	+	0	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	457	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.F457F(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.612000														135			39		0	0	0.013114	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324385	52324385	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:52324385C>T	uc003ddo.3	+	1	123	c.27C>T	c.(25-27)ccC>ccT	p.P9P	GLYCTK_uc003ddq.2_Silent_p.P9P|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.P9P|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	9					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		AGGTCCTGCCCCGCTTGGCCC	0.662000														26			5		0	0	0.000602	0	0
KRT12	3859	broad.mit.edu	37	17	39021105	39021105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:39021105C>T	uc002hvk.2	-	2	784	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	254	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TTCAGGCTCTCGATCTGCATC	0.592000														95			25		0	0	0.003954	0	0
MUC17	140453	broad.mit.edu	37	7	100694923	100694923	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100694923C>T	uc003uxp.1	+	7	12957	c.12904C>T	c.(12904-12906)Caa>Taa	p.Q4302*	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4302						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTGGCACCCAAGTGCAAAA	0.537000														36			9		0	0	0.008291	0	0
AGR3	155465	broad.mit.edu	37	7	16918164	16918164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:16918164C>T	uc003sts.3	-	1	152	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	27						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GGCCTCTTTTCCTTTTTTATT	0.403000														54			19		0	0	0.007413	0	0
AK302514	0	broad.mit.edu	37	6	66013283	66013283	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:66013283C>T	uc011dxv.2	+	1	1560	c.869C>T	c.(868-870)tCg>tTg	p.S290L	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		CGAAAATTTTCGACAGGCGGT	0.493000														29			8		0	0	0.002450	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032355	10032355	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:10032355C>T	uc010uym.2	-	3	778	c.468G>A	c.(466-468)acG>acA	p.T156T	GRIN2A_uc002czo.4_Silent_p.T156T|GRIN2A_uc010uyn.2_5'UTR|GRIN2A_uc002czr.4_Silent_p.T156T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	156					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T156T(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAGCATGACCGTGGCTTGCT	0.507000														53			10		0	0	0.008291	0	0
NID1	4811	broad.mit.edu	37	1	236212199	236212199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:236212199G>A	uc001hxo.3	-	1	418	c.316C>T	c.(316-318)Cct>Tct	p.P106S	NID1_uc009xgd.3_Missense_Mutation_p.P106S	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	106	NIDO.				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)	GCCAGGAAAGGGGCGACTGCA	0.552000														95			34		0	0	0.004878	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29966482	29966482	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:29966482G>A	uc003afx.4	-	1	393	c.138C>T	c.(136-138)tcC>tcT	p.S46S	NIPSNAP1_uc011akp.2_Silent_p.S26S	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	46								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GAACAAAGAGGGAGCGGAACC	0.562000														12			6		0	0	0.001984	0	0
BAZ2A	11176	broad.mit.edu	37	12	57003922	57003922	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:57003922G>A	uc001slq.1	-	8	2057	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	BAZ2A_uc001slp.1_Silent_p.F619F|BAZ2A_uc009zow.1_Silent_p.F589F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	621					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTTCTTCAAAGAAATCTCCAA	0.512000														102			14		0	0	0.004007	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432608	140432608	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140432608G>A	uc003lik.1	+	0	1630	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	518	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACGCGCTGAGAACCATGGAT	0.433000														33			6		0	0	0.001168	0	0
RELA	5970	broad.mit.edu	37	11	65429188	65429188	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65429188G>A	uc010ron.2	-	3	478	c.338C>T	c.(337-339)gCt>gTt	p.A113V	RELA_uc001off.3_Missense_Mutation_p.A102V|RELA_uc001ofh.3_Missense_Mutation_p.A102V|RELA_uc001ofg.3_Missense_Mutation_p.A102V|RELA_uc021qlq.1_Missense_Mutation_p.A102V|RELA_uc009yqr.3_Missense_Mutation_p.A49V|RELA_uc001ofe.2_Missense_Mutation_p.A102V|RELA_uc009yqs.1_5'Flank	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	102	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|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|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCAGAGCTCAGCCTCATAGAA	0.642000														68			12		0	0	0.001855	0	0
GRM2	2912	broad.mit.edu	37	3	51751697	51751697	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:51751697C>T	uc010hlv.3	+	4	2648	c.2409C>T	c.(2407-2409)tcC>tcT	p.S803S	GRM2_uc003dbo.4_Silent_p.S185S|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	803					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCAGCGGCTCCGTGGTGCTTG	0.627000														35			8		0	0	0.003080	0	0
GPR156	165829	broad.mit.edu	37	3	119886817	119886817	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:119886817C>T	uc011bjf.2	-	8	1887	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	GPR156_uc011bjg.2_Missense_Mutation_p.D499N	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	503						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGACTTGGTCTCCTCTTTCT	0.527000														124			44		0	0	0.014410	0	0
C12orf12	196477	broad.mit.edu	37	12	91347766	91347766	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:91347766C>T	uc001tbj.3	-	0	1188	c.754G>A	c.(754-756)Ggc>Agc	p.G252S		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	252										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCACAAAGCCATACAGAGTT	0.592000														284			64		0	0	0.014410	0	0
ZNF132	7691	broad.mit.edu	37	19	58945209	58945209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:58945209C>T	uc002qst.4	-	2	2003	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	534						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGAATTCTCCAGTGCTGAA	0.498000														34			8		0	0	0.010729	0	0
TMF1	7110	broad.mit.edu	37	3	69088085	69088085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:69088085G>A	uc011bfx.2	-	6	2159	c.1912C>T	c.(1912-1914)Caa>Taa	p.Q638*	TMF1_uc003dnn.3_Nonsense_Mutation_p.Q635*	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	635					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCTTTCTCTTGGCGTTCTACC	0.368000														49			12		0	0	0.010729	0	0
ITGA10	8515	broad.mit.edu	37	1	145535786	145535786	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:145535786C>T	uc001eoa.3	+	15	2050	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	ITGA10_uc010oyv.2_Silent_p.A527A|ITGA10_uc009wiw.3_Silent_p.A515A|ITGA10_uc010oyw.2_Silent_p.A603A	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	658					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCACAGGCCATCAGTGTGG	0.577000														116			39		0	0	0.007835	0	0
PCNXL2	80003	broad.mit.edu	37	1	233225933	233225933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:233225933G>A	uc001hvl.2	-	22	4185	c.3950C>T	c.(3949-3951)tCt>tTt	p.S1317F	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1317						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGCATGGCAGAATCTGAGAA	0.323000														45			13		0	0	0.001855	0	0
MAP1A	4130	broad.mit.edu	37	15	43818368	43818368	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:43818368A>G	uc001zrt.3	+	3	5164	c.4697A>G	c.(4696-4698)gAa>gGa	p.E1566G		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1566						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAGCCCTGGAACAAAACATT	0.458000														34			7		0	0	0.001984	0	0
CRHBP	1393	broad.mit.edu	37	5	76259220	76259220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:76259220G>A	uc003ker.3	+	5	1026	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	249					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CTGCTGGGAGGAACTGGATTG	0.463000														397			88		0	0	0.014410	0	0
OR5M1	390168	broad.mit.edu	37	11	56380251	56380251	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:56380251G>A	uc001nja.1	-	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTCAGGTGGGAAGCACACGT	0.448000														58			17		0	0	0.014323	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423747	107423747	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:107423747C>T	uc003ver.2	-	8	1233	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	SLC26A3_uc003ves.2_Missense_Mutation_p.G306E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	341					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAAGCAATCTCCTACGGTGTT	0.423000														36			10		0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238287836	238287836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:238287836G>A	uc002vwl.2	-	5	2225	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	COL6A3_uc002vwo.2_Missense_Mutation_p.S441L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.S441L|COL6A3_uc002vwr.3_Missense_Mutation_p.S240L|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	647	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G646R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACGTTGGCTGATCCATCCAA	0.378000														36			9		0	0	0.010729	0	0
CRYGD	1421	broad.mit.edu	37	2	208989071	208989071	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:208989071A>G	uc002vcn.4	-	1	133	c.17T>C	c.(16-18)cTc>cCc	p.L6P	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Missense_Mutation_p.L6P	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	6	Beta/gamma crystallin 'Greek key' 1.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCTCGTAGAGGGTGATCTG	0.682000														16			6		0	0	0.001984	0	0
TTLL9	164395	broad.mit.edu	37	20	30530770	30530770	+	Silent	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:30530770A>G	uc010gdx.1	+	14	1519	c.1266A>G	c.(1264-1266)aaA>aaG	p.K422K	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.K324K|TTLL9_uc010ztp.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	422					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCGGAAGAAACAACTGAGGC	0.572000														126			38		0	0	0.006230	0	0
GRHL1	29841	broad.mit.edu	37	2	10098918	10098918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:10098918C>T	uc002raa.3	+	2	382	c.211C>T	c.(211-213)Cca>Tca	p.P71S	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_5'UTR|GRHL1_uc010yjb.2_5'UTR|BC051708_uc002rac.3_5'Flank	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	71	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ATATCAGGTTCCAAGAGAGAG	0.408000														52			18		0	0	0.008871	0	0
CLCNKA	1187	broad.mit.edu	37	1	16383395	16383395	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:16383395C>T	uc001axx.4	+	19	2184	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	CLCNKA_uc021ogm.1_Missense_Mutation_p.P514L|CLCNKA_uc001axy.4_Missense_Mutation_p.P513L	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	683	CBS 2.		P -> L (in dbSNP:rs12746751).		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGACAAATCCGCCAGCCCCA	0.572000														24			13		0	0	0.002450	0	0
GRIA1	2890	broad.mit.edu	37	5	153149862	153149862	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:153149862G>A	uc011dcy.2	+	12	2214	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E	GRIA1_uc003lva.4_Silent_p.E719E|GRIA1_uc003luy.4_Silent_p.E719E|GRIA1_uc003luz.4_Silent_p.E624E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.E639E|GRIA1_uc011dcx.2_Silent_p.E650E|GRIA1_uc011dcz.2_Silent_p.E729E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	719					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R729W(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCTCCTGGAGTCCACCATGA	0.498000														20			7		0	0	0.001984	0	0
PSD4	23550	broad.mit.edu	37	2	113940401	113940401	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:113940401G>A	uc002tjc.3	+	1	551	c.368G>A	c.(367-369)aGg>aAg	p.R123K	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.R122K|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	123					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCCCAGAGGGAGCACAGG	0.617000														53			8		0	0	0.004482	0	0
ESRRB	2103	broad.mit.edu	37	14	76905728	76905728	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:76905728G>A	uc001xsr.3	+	3	403	c.32G>A	c.(31-33)aGc>aAc	p.S11N	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.S11N	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	11						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGGGCTCCAGCTGCGGCTCC	0.667000														68			15		0	0	0.004007	0	0
ATN1	1822	broad.mit.edu	37	12	7050126	7050126	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:7050126C>T	uc001qrw.1	+	7	3535	c.3298C>T	c.(3298-3300)Cct>Tct	p.P1100S	ATN1_uc001qrx.1_Missense_Mutation_p.P1100S|C12orf57_uc009zfj.1_5'Flank	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	1100					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGAACTCTCCCTAACCCCCT	0.577000														38			7		0	0	0.001984	0	0
MAP7	9053	broad.mit.edu	37	6	136693694	136693694	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:136693694A>C	uc011edg.2	-	7	1160	c.911T>G	c.(910-912)cTc>cGc	p.L304R	MAP7_uc011edf.2_Missense_Mutation_p.L259R|MAP7_uc010kgu.3_Missense_Mutation_p.L296R|MAP7_uc011edh.2_Missense_Mutation_p.L259R|MAP7_uc010kgv.3_Missense_Mutation_p.L296R|MAP7_uc010kgs.3_Missense_Mutation_p.L128R|MAP7_uc011edi.2_Missense_Mutation_p.L128R|MAP7_uc010kgq.2_Missense_Mutation_p.L180R|MAP7_uc003qgz.3_Missense_Mutation_p.L274R|MAP7_uc003qha.2_Missense_Mutation_p.L237R|MAP7_uc010kgr.2_Missense_Mutation_p.L128R|MAP7_uc010kgt.2_Missense_Mutation_p.L296R|MAP7_uc003qhb.3_Non-coding_Transcript	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	274					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTTACAAAGAGTTTTGGTCG	0.527000														49			16		0	0	0.004990	0	0
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:161173248G>A	uc003qtm.4	+	17	2339	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	743	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488000														43			15		0	0	0.004007	0	0
RNF213	57674	broad.mit.edu	37	17	78262068	78262068	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:78262068A>T	uc002jyh.2	+	4	1006	c.863A>T	c.(862-864)cAg>cTg	p.Q288L	RNF213_uc002jyf.3_Missense_Mutation_p.Q239L|RNF213_uc021uen.1_Missense_Mutation_p.Q239L|RNF213_uc002jyg.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	239										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGCTGCCCAGGAGCTCCTG	0.632000														52			20		0	0	0.010504	0	0
FAS	355	broad.mit.edu	37	10	90767523	90767523	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:90767523G>A	uc001kfr.3	+	2	609	c.263G>A	c.(262-264)gGg>gAg	p.G88E	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Missense_Mutation_p.G88E|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Missense_Mutation_p.G88E|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Intron|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Missense_Mutation_p.G88E|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	88					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TGCCAAGAAGGGAAGGAGTAC	0.448000														21			7		0	0	0.004482	0	0
FIG4	9896	broad.mit.edu	37	6	110083360	110083360	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:110083360C>T	uc003ptt.2	+	11	1553	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	FIG4_uc011eau.1_Silent_p.F169F	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	446	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAACAGGTTTCTTTGTAAACC	0.353000														46			12		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9070973	9070973	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9070973C>T	uc002mkp.3	-	2	16677	c.16473G>A	c.(16471-16473)gaG>gaA	p.E5491E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5493	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						ACGTGCTGCTCTCCCTCAGTC	0.483000														47			13		0	0	0.013537	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134471703	134471703	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:134471703T>A	uc022bos.1	-	13	2326	c.2167A>T	c.(2167-2169)Act>Tct	p.T723S	RAPGEF1_uc022bot.1_Missense_Mutation_p.T705S|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.T880S|RAPGEF1_uc022bov.1_Missense_Mutation_p.T710S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	705	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCAGTCTCAGTAGCATGGACC	0.597000														29			10		0	0	0.010729	0	0
DNAJC16	23341	broad.mit.edu	37	1	15870913	15870913	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:15870913C>T	uc001aws.3	+	4	714	c.594C>T	c.(592-594)gtC>gtT	p.V198V	DNAJC16_uc001awr.1_Silent_p.V198V|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	198	Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTGGCGTGGTCCATGCTGGGT	0.468000														31			10		0	0	0.008291	0	0
CDCP1	64866	broad.mit.edu	37	3	45134979	45134979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:45134979C>T	uc003com.3	-	5	1552	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	473	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGGGCTTCTCGTGTGTATGC	0.612000														36			17		0	0	0.004990	0	0
SIPA1	6494	broad.mit.edu	37	11	65408626	65408626	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65408626C>T	uc001ofb.2	+	1	401	c.234C>T	c.(232-234)gcC>gcT	p.A78A	SIPA1_uc010rom.1_Silent_p.A78A|SIPA1_uc001ofd.2_Silent_p.A78A	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	78					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACGAAGAGGCCAGCCGACCTG	0.716000														30			7		0	0	0.003080	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68115390	68115390	+	Silent	SNP	A	G	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:68115390A>G	uc003xxo.2	-	35	5446	c.5056T>C	c.(5056-5058)Tta>Cta	p.L1686L	ARFGEF1_uc003xxl.1_Silent_p.L1140L|ARFGEF1_uc003xxm.2_Silent_p.L89L|ARFGEF1_uc003xxn.2_Silent_p.L631L|ARFGEF1_uc003xxp.1_5'Flank	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1686					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GACTCTAATAAGCAGTCCAGT	0.423000														39			34		0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9077538	9077538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9077538C>T	uc002mkp.3	-	2	10112	c.9908G>A	c.(9907-9909)gGg>gAg	p.G3303E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3304	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						CTGCCTGGTCCCTCCTGGAGT	0.527000														63			45		0	0	0.013114	0	0
ODZ4	26011	broad.mit.edu	37	11	78383149	78383149	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:78383149C>T	uc001ozl.4	-	30	6185	c.5722G>A	c.(5722-5724)Gac>Aac	p.D1908N	ODZ4_uc001ozk.4_Missense_Mutation_p.D133N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1908					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCCGCCTGGTCGTATTCCATT	0.547000														35			6		0	0	0.001168	0	0
FPR2	2358	broad.mit.edu	37	19	52272419	52272419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:52272419C>T	uc002pxr.3	+	1	553	c.508C>T	c.(508-510)Cca>Tca	p.P170S	FPR2_uc002pxs.4_Missense_Mutation_p.P170S|FPR2_uc010epf.3_Missense_Mutation_p.P170S|FPR2_uc021uyp.1_Missense_Mutation_p.P170S	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	170					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AGTAACTATTCCAAATGGGGA	0.507000														54			20		0	0	0.014323	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711008	140711008	+	Missense_Mutation	SNP	G	A	A	rs140226913	by1000genomes	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140711008G>A	uc003lji.2	+	0	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E253K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	253	Cadherin 3.				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)			AAATGTCCCCGAAAACGTGCC	0.488000														46			11		0	0	0.008291	0	0
IDO1	3620	broad.mit.edu	37	8	39781071	39781071	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:39781071G>A	uc003xnm.3	+	6	735	c.621G>A	c.(619-621)ttG>ttA	p.L207L		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	207					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTTCTTGCTTGGAGAAAGCCC	0.423000														29			7		0	0	0.001984	0	0
HRNR	388697	broad.mit.edu	37	1	152193185	152193185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:152193185G>A	uc001ezt.1	-	2	996	c.920C>T	c.(919-921)cCt>cTt	p.P307L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	307					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACGTGGCTAGGAGACTGGCG	0.592000														181			74		0	0	0.014410	0	0
CACNG2	10369	broad.mit.edu	37	22	36983516	36983516	+	Silent	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:36983516G>A	uc003aps.2	-	1	360	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	97					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ACTCACGGAGGAAATATTCTG	0.512000														118			26		0	0	0.006320	0	0
PTK2B	2185	broad.mit.edu	37	8	27295362	27295362	+	Silent	SNP	C	T	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:27295362C>T	uc003xfn.2	+	22	2416	c.1608C>T	c.(1606-1608)gcC>gcT	p.A536A	PTK2B_uc022ate.1_Silent_p.A536A|PTK2B_uc003xfp.2_Silent_p.A536A|PTK2B_uc003xfq.2_Silent_p.A536A|PTK2B_uc003xfr.1_Silent_p.A282A	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	536	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TATGCAAAGCCATGGCCTACC	0.597000														16			6		0	0	0.001984	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432756	67432756	+	Splice_Site	SNP	C	T	T	rs142113776	byFrequency	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:67432756C>T	uc001omr.3	-	7	1145	c.706_splice	c.e7+1	p.A236_splice	ALDH3B2_uc001oms.3_Splice_Site_p.A236_splice|ALDH3B2_uc009ysa.1_Splice_Site_p.A236_splice	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	236					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CAGGACTCACCGATGTAGCGA	0.642000														59			19		0	0	0.008871	0	0
FCRL1	115350	broad.mit.edu	37	1	157767989	157767989	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:157767989G>A	uc001frg.3	-	7	1189	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.S359L|FCRL1_uc001fri.3_Missense_Mutation_p.S320L|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	359						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGGGTAGGTGAGTTGAGGTA	0.507000														61			10		0	0	0.010729	0	0
PLXND1	23129	broad.mit.edu	37	3	129289979	129289987	+	In_Frame_Del	DEL	GAACCTGCT	-	-			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:129289979_129289987delGAACCTGCT	uc003emx.2	-	17	3596_3604	c.3496_3504delAGCAGGTTC	c.(3496-3504)agcaggttcdel	p.SRF1166del		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1166					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCCAGGCGGAACCTGCTGCCCCGCTGT	0.632													---	154	---	---	17	---					
TSC1	7248	broad.mit.edu	37	9	135785946	135785957	+	Splice_Site	DEL	GCTGGATCGCAC	-	-			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:135785946_135785957delGCTGGATCGCAC	uc004cca.2	-	12	1497	c.1263_splice	c.e12+1	p.K421_splice	TSC1_uc004ccb.3_Splice_Site_p.K420_splice|TSC1_uc011mcq.1_Splice_Site_p.K370_splice|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_Splice_Site_p.K300_splice|TSC1_uc004ccc.1_In_Frame_Del_p.VRSS422del	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	421					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGCAGACGAGCTGGATCGCACCTTCCTGGGG	0.547			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				---	96	---	---	13	---					
