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
MCOLN1	57192	broad.mit.edu	37	19	7595243	7595243	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:7595243C>T	uc002mgo.3	+	11	1572	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	MCOLN1_uc002mgp.3_Silent_p.F442F	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	477					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTGACGTTCGCCGCCATGC	0.597000														178			20		0	0	0.000295444	0	0
SYT10	341359	broad.mit.edu	37	12	33529775	33529775	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:33529775G>A	uc001rll.1	-	6	1859	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	SYT10_uc009zju.1_Missense_Mutation_p.S331F	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	521						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTATGGTGTGGAAGGTGGTTT	0.413000														104			18		0	0	0.000229342	0	0
PHKA1	5255	broad.mit.edu	37	X	71877446	71877446	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:71877446G>A	uc004eax.4	-	8	1211	c.910C>T	c.(910-912)Cct>Tct	p.P304S	PHKA1_uc004eay.4_Missense_Mutation_p.P304S|PHKA1_uc011mqi.2_Missense_Mutation_p.P304S	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	304					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACCTCTTTAGGAGTTTTATAT	0.418000														21			5		0	0	3.59834e-05	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988846	154988846	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:154988846C>T	uc001fgj.4	+	5	1692	c.1407C>T	c.(1405-1407)tgC>tgT	p.C469C	ZBTB7B_uc009wpa.3_Silent_p.C435C|ZBTB7B_uc001fgk.4_Silent_p.C435C|ZBTB7B_uc010peq.2_Silent_p.C469C|ZBTB7B_uc001fgl.4_Silent_p.C435C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	435					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P469P(1)		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)			GCCACCTGTGCCACAAGGCTT	0.647000														14			8		0	0	0.000157383	0	0
ULK4	54986	broad.mit.edu	37	3	41961305	41961305	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:41961305G>A	uc003ckv.4	-	5	748	c.547C>T	c.(547-549)Cct>Tct	p.P183S	ULK4_uc003ckw.2_Missense_Mutation_p.P183S|ULK4_uc003ckx.1_Missense_Mutation_p.P183S	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	183	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTATATACAGGAGATCCTAAA	0.443000														44			24		0	0	0.00047179	0	0
FUT9	10690	broad.mit.edu	37	6	96651968	96651968	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:96651968C>T	uc003pop.4	+	2	1278	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F	FUT9_uc021zcw.1_Missense_Mutation_p.L313F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	313					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TAAGTTATACCTTAGTTACTT	0.373000														27			8		0	0	0.000157383	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736134	140736134	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:140736134C>T	uc003ljq.2	+	0	1367	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.S456F	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	458	Cadherin 5.				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)			CCTCATGCTTCCTACTCTGCT	0.483000														48			45		0	0	0.000125731	0	0
FCRL5	83416	broad.mit.edu	37	1	157497543	157497543	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:157497543C>T	uc009wsm.3	-	8	1982	c.1824G>A	c.(1822-1824)ggG>ggA	p.G608G	FCRL5_uc001fqu.3_Silent_p.G608G|FCRL5_uc010phv.1_Silent_p.G608G|FCRL5_uc010phw.1_Silent_p.G523G	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	608	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGAGCTGCTCCCCAGGGTGA	0.567000														27			19		0	0	0.000132079	0	0
COPB2	9276	broad.mit.edu	37	3	139094319	139094319	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:139094319C>G	uc003etf.4	-	5	772	c.642G>C	c.(640-642)tgG>tgC	p.W214C	COPB2_uc011bmv.2_Missense_Mutation_p.W185C|COPB2_uc010hui.3_Missense_Mutation_p.W185C|COPB2_uc011bmw.1_Missense_Mutation_p.W214C	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	214					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CCTGATAATCCCATATTTTAA	0.378000														78			6		0	0	3.59834e-05	0	0
CASR	846	broad.mit.edu	37	3	121973162	121973162	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:121973162T>C	uc003eew.4	+	1	564	c.126T>C	c.(124-126)ttT>ttC	p.F42F	CASR_uc003eev.4_Silent_p.F42F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	42					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTATTCATTTTGGAGTAGCAG	0.507000														39			49		0	0	0.000147903	0	0
DPY19L4	286148	broad.mit.edu	37	8	95751915	95751915	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95751915G>T	uc003ygx.2	+	5	632	c.508G>T	c.(508-510)Gga>Tga	p.G170*	DPY19L4_uc003ygy.3_Nonsense_Mutation_p.G107*	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	170						integral to membrane		p.G170*(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CATTGTTTTTGGATTGCAAGG	0.353000														883			14		9.7654e-05	0.00164975	9.7654e-05	1	0
TOX2	84969	broad.mit.edu	37	20	42697310	42697310	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:42697310C>T	uc010ggo.3	+	8	1545	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	TOX2_uc002xle.4_Missense_Mutation_p.S460L|TOX2_uc010ggp.3_Missense_Mutation_p.S460L|TOX2_uc002xlf.4_Missense_Mutation_p.S484L|TOX2_uc010zwk.2_Missense_Mutation_p.S380L	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGGGACAAATCGCTCTACCTC	0.627000														27			10		0	0	6.40141e-05	0	0
DSP	1832	broad.mit.edu	37	6	7580752	7580752	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:7580752G>A	uc003mxp.1	+	22	4608	c.4329G>A	c.(4327-4329)agG>agA	p.R1443R	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1443	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGTCTCAGAGGAAACAGCAGC	0.498000														47			6		0	0	3.59834e-05	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490228	141490228	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:141490228G>A	uc003vwr.1	+	0	212	c.67G>A	c.(67-69)Gga>Aga	p.G23R		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	23					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CGGTTTAATTGGAAATGGAAG	0.517000														40			45		0	0	0.000147903	0	0
MPPED2	744	broad.mit.edu	37	11	30557687	30557687	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:30557687G>A	uc001msr.3	-	1	285	c.164C>T	c.(163-165)gCg>gTg	p.A55V	MPPED2_uc001msq.3_Missense_Mutation_p.A55V|MPPED2_uc009yji.3_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	55					nervous system development		hydrolase activity|metal ion binding	p.A55A(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CGTGTGGCCCGCTGGTTTTGG	0.483000														27			9		0	0	3.86212e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35763799	35763799	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:35763799C>T	uc003jjo.3	+	25	3907	c.3796C>T	c.(3796-3798)Cac>Tac	p.H1266Y	SPEF2_uc003jjp.1_Missense_Mutation_p.H752Y	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1266					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGTATCTCACATGGTAAG	0.413000														74			18		0	0	0.000229342	0	0
TRIB2	28951	broad.mit.edu	37	2	12863439	12863439	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:12863439T>C	uc002rbv.4	+	1	1760	c.324T>C	c.(322-324)tcT>tcC	p.S108S	TRIB2_uc010yjp.2_5'UTR	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	108	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTGCCTGTCTGCTCATAGTA	0.468000														12			25		0	0	0.000117367	0	0
PPWD1	23398	broad.mit.edu	37	5	64868010	64868010	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:64868010C>T	uc003jtv.4	+	4	873	c.866C>T	c.(865-867)tCa>tTa	p.S289L	PPWD1_uc011cqv.2_Missense_Mutation_p.S259L|PPWD1_uc011cqw.2_Missense_Mutation_p.S133L	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	289					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GTATGTTTTTCACCAGATGGG	0.333000														111			29		0	0	0.000409698	0	0
SLC44A4	80736	broad.mit.edu	37	6	31844859	31844860	+	Splice_Site	DNP	CC	AA	AA	rs34026578		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31844859_31844860CC>AA	uc010jti.3	-	2	107	c.41_splice	c.e2-1	p.G14_splice	SLC44A4_uc011dol.2_Splice_Site|SLC44A4_uc011dom.2_Splice_Site_p.G14_splice	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	14						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GACTGGCTTCCCTGAGGGACAT	0.599000														299			10		0	0	6.4e-05	0	0
UNC5D	137970	broad.mit.edu	37	8	35541129	35541129	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:35541129C>T	uc003xjr.2	+	4	963	c.635C>T	c.(634-636)gCt>gTt	p.A212V	UNC5D_uc003xjs.2_Missense_Mutation_p.A207V|UNC5D_uc003xjt.1_5'UTR	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	212	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GACACCAGGGCTGACCATAAC	0.493000														71			7		0	0	0.000274275	0	0
ZNF85	7639	broad.mit.edu	37	19	21116903	21116903	+	Missense_Mutation	SNP	G	A	A	rs149214151	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:21116903G>A	uc002npg.4	+	1	225	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	ZNF85_uc002npf.3_Non-coding_Transcript|ZNF85_uc002nph.1_Non-coding_Transcript|ZNF85_uc010ecn.3_5'UTR|ZNF85_uc010eco.3_5'Flank|ZNF85_uc002npi.3_5'Flank	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	26	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ACTGCACAGCGGAATTTATAT	0.408000														167			12		0	0	0.000151284	0	0
LRP1	4035	broad.mit.edu	37	12	57590918	57590918	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:57590918G>A	uc001snd.3	+	55	9512	c.9046G>A	c.(9046-9048)Ggc>Agc	p.G3016S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3016	EGF-like 12; calcium-binding (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCCCGCGGCGGCGACCCCCA	0.642000														14			23		0	0	0.000147802	0	0
SAG	6295	broad.mit.edu	37	2	234255480	234255480	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:234255480G>A	uc002vuh.2	+	15	1528	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	SAG_uc010zmq.1_3'UTR	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	380					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TAGTTTTTGAGGAGTTTGCTC	0.418000														29			6		0	0	8.12818e-05	0	0
ZPLD1	131368	broad.mit.edu	37	3	102176628	102176628	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:102176628C>T	uc003dvt.1	+	4	661	c.561C>T	c.(559-561)tcC>tcT	p.S187S	ZPLD1_uc003dvs.1_Silent_p.S171S|ZPLD1_uc011bhg.1_Silent_p.S171S	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	171	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTTTTAGGTCCTCAGCGGCTA	0.363000														147			46		0	0	0.000147903	0	0
GLRA1	2741	broad.mit.edu	37	5	151235895	151235895	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:151235895C>T	uc003lut.3	-	4	813	c.526G>A	c.(526-528)Gat>Aat	p.D176N	GLRA1_uc003lur.3_Missense_Mutation_p.D176N|GLRA1_uc003lus.3_Missense_Mutation_p.D93N	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	176					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.M175fs*19(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCTGGACATCCATGGGGAAA	0.488000														53			20		0	0	0.000375601	0	0
WDR72	256764	broad.mit.edu	37	15	53908429	53908429	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:53908429G>A	uc002acj.2	-	14	2016	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	WDR72_uc010bfi.1_Silent_p.A658A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	658								p.A658A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGCAAAATTTGGCATCAGTAA	0.318000														13			8		0	0	0.000442599	0	0
TRIM60	166655	broad.mit.edu	37	4	165961536	165961536	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:165961536G>A	uc003iqy.1	+	2	482	c.312G>A	c.(310-312)ctG>ctA	p.L104L	TRIM60_uc010iqx.1_Silent_p.L104L|TRIM60_uc021xty.1_Silent_p.L104L	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	104						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ACCAGTTTCTGACCCTCTTCT	0.408000														29			5		0	0	0.000602214	0	0
JAZF1	221895	broad.mit.edu	37	7	27872513	27872514	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:27872513_27872514CC>AA	uc003szn.3	-	4	878_879	c.637_638GG>TT	c.(637-639)ggg>TTg	p.G213L	JAZF1_uc003szm.3_Missense_Mutation_p.G149L	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	213					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTAACTCTTCCCACAGCGACAC	0.470000			T	SUZ12	endometrial stromal tumours									431			12		0	0	6.4e-05	0	0
HERC2P2	400322	broad.mit.edu	37	15	23326585	23326585	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:23326585G>A	uc001yvr.2	-	10	1536	c.1336C>T	c.(1336-1338)Ccg>Tcg	p.P446S	HERC2P2_uc010ayf.1_Intron|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		GGAGACTGCGGATAAAGACCC	0.418000														175			18		0	0	0.000175454	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535211	96535211	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:96535211G>A	uc010qnz.2	+	2	396	c.396G>A	c.(394-396)cgG>cgA	p.R132R	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Silent_p.R110R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGACGCTGCGGAATTTTGGGA	0.507000														45			19		0	0	0.000229342	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769888	112769888	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:112769888C>T	uc003kqm.2	-	0	841	c.649G>A	c.(649-651)Gac>Aac	p.D217N	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	217	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TTGGAGTCGTCGTAGGGCATG	0.577000														40			12		0	0	0.000151284	0	0
LIPH	200879	broad.mit.edu	37	3	185252615	185252616	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:185252615_185252616GG>TT	uc003fpm.3	-	1	464_465	c.354_355CC>AA	c.(352-357)acccat>acAAat	p.H119N	LIPH_uc010hyh.3_Missense_Mutation_p.H119N	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	119					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTAGAGGCATGGGTATATATTA	0.386000														694			22		0	0	6.4e-05	0	0
ASXL3	80816	broad.mit.edu	37	18	31324745	31324745	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:31324745G>A	uc010dmg.1	+	11	4988	c.4933G>A	c.(4933-4935)Gaa>Aaa	p.E1645K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1352K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TATCAAAACTGAACATGCCAA	0.438000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			17		0	0	0.000566183	0	0
NSUN2	54888	broad.mit.edu	37	5	6600246	6600246	+	Silent	SNP	G	A	A	rs1057838		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:6600246G>A	uc003jdu.3	-	18	2478	c.2097C>T	c.(2095-2097)ctC>ctT	p.L699L	NSUN2_uc003jdt.3_Silent_p.L463L|NSUN2_uc011cmk.2_Silent_p.L664L|NSUN2_uc003jdv.3_Silent_p.L463L	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	699						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.L699F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCATCATCCTGAGATAATGAA	0.522000														29			25		0	0	0.00047179	0	0
JPH1	56704	broad.mit.edu	37	8	75227805	75227805	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:75227805G>A	uc003yae.3	-	1	470	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	JPH1_uc003yaf.3_Missense_Mutation_p.R144C|JPH1_uc003yag.1_Missense_Mutation_p.R8C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	144					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACGCTCTGGCGCACGCCGTAG	0.682000														33			7		0	0	0.000157383	0	0
PRC1	9055	broad.mit.edu	37	15	91513683	91513684	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:91513683_91513684CC>AA	uc002bqm.3	-	11	1679_1680	c.1522_1523GG>TT	c.(1522-1524)ggg>TTg	p.G508L	PRC1_uc002bqn.3_Missense_Mutation_p.G508L|PRC1_uc002bqo.3_Missense_Mutation_p.G508L|PRC1_uc010uqs.2_Missense_Mutation_p.G467L	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	508	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	p.G507E(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGACTGTCCCTCCAAAGATA	0.525000														402			14		0	0	6.4e-05	0	0
RP1L1	94137	broad.mit.edu	37	8	10470595	10470595	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:10470595A>T	uc003wtc.3	-	3	1242	c.1013T>A	c.(1012-1014)cTa>cAa	p.L338Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	338					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGGGACCATAGGAGCGTGTC	0.647000														44			33		0	0	0.000191422	0	0
CDH16	1014	broad.mit.edu	37	16	66948256	66948256	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:66948256C>T	uc002eql.3	-	6	837	c.643G>A	c.(643-645)Gac>Aac	p.D215N	CDH16_uc010cdy.3_Missense_Mutation_p.D215N|CDH16_uc021tjx.1_Missense_Mutation_p.D215N|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	215	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCACCCATGTCCTTGACCTGT	0.612000														36			5		0	0	3.59834e-05	0	0
PAPPA	5069	broad.mit.edu	37	9	119094741	119094741	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:119094741G>A	uc004bjn.3	+	11	3772	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	PAPPA_uc011lxp.1_Missense_Mutation_p.D826N|PAPPA_uc011lxq.2_Missense_Mutation_p.D506N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1131					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCAGAGCCACGATCTAGGTAA	0.493000														42			7		0	0	0.000442599	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273405	145273406	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:145273405_145273406CG>AT	uc001emn.4	+	2	629_630	c.259_260CG>AT	c.(259-261)cgg>ATg	p.R87M	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.R87M|NOTCH2NL_uc001emo.2_Missense_Mutation_p.R87M|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	87	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.R87L(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TATGCTCAGCCGGGATACCTAT	0.495000														791			11		0	0	6.4e-05	0	0
CUZD1	50624	broad.mit.edu	37	10	124593240	124593240	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:124593240G>A	uc001lgs.3	-	9	2550	c.1599C>T	c.(1597-1599)tcC>tcT	p.S533S	CUZD1_uc001lgp.3_Silent_p.S252S|CUZD1_uc009yad.3_Silent_p.S252S|CUZD1_uc009yaf.3_Silent_p.S167S|CUZD1_uc001lgr.3_Silent_p.S252S|CUZD1_uc010qty.2_Silent_p.S252S|CUZD1_uc009yae.3_Silent_p.S252S|CUZD1_uc010qtz.2_Silent_p.S533S	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	533					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTCCTATGATGGAATCTGTTT	0.408000														79			46		0	0	0.000147903	0	0
EPHX4	253152	broad.mit.edu	37	1	92528792	92528792	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:92528792G>A	uc001don.2	+	6	1142	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	346						integral to membrane	hydrolase activity	p.V346V(2)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						CTGACATAGTGAACAAATTGA	0.318000														82			23		0	0	9.22233e-05	0	0
TAS1R2	80834	broad.mit.edu	37	1	19186034	19186034	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:19186034G>A	uc001bba.1	-	0	122	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	41					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TTGGCATGGAGGGAGAAGAGG	0.577000														50			12		0	0	0.000219431	0	0
BRWD1	54014	broad.mit.edu	37	21	40636394	40636394	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:40636394A>C	uc002yxk.2	-	16	2172	c.1877T>G	c.(1876-1878)gTg>gGg	p.V626G	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.V626G|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_Missense_Mutation_p.V79G|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.V346G	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	626					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)				ACTTGTTGCCACATAGCCCAG	0.333000														52			22		0	0	0.000229342	0	0
ANAPC10	10393	broad.mit.edu	37	4	146017176	146017176	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:146017176C>A	uc003iju.4	-	2	231	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ANAPC10_uc003ijv.4_Missense_Mutation_p.G26W|ANAPC10_uc003ijw.4_Missense_Mutation_p.G26W|ABCE1_uc003ijx.3_5'Flank|ABCE1_uc003ijy.3_5'Flank|ABCE1_uc010iot.3_5'Flank	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	Homo sapiens anaphase promoting complex subunit 10 (ANAPC10), mRNA.	26	DOC.				G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					GCTTGTGACCCAATTTCCCGT	0.413000														265			11		0.000308642	0.0051873	0.000308642	1	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180675	142180675	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:142180675G>A	uc011krz.2	-	1	233	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.L62L|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCAGCCTCAGCCCCATGCCT	0.507000														215			36		0	0	0.000589545	0	0
VARS	7407	broad.mit.edu	37	6	31748318	31748319	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31748318_31748319CG>AT	uc003nxe.3	-	24	3247_3248	c.2824_2825CG>AT	c.(2824-2826)cgg>ATg	p.R942M	VARS_uc021yuy.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	942					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCCAGTATCCGGTTCACATCC	0.589000														281			7		0	0	6.4e-05	0	0
GC	2638	broad.mit.edu	37	4	72618257	72618257	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:72618257G>A	uc010iif.3	-	11	1525	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	GC_uc003hge.3_Missense_Mutation_p.P458L|GC_uc021xpb.1_Missense_Mutation_p.P458L	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	458					hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTAAAGAGGAGGTGAGTTTAT	0.438000														27			4		0	0	0.00024832	0	0
MUC5B	727897	broad.mit.edu	37	11	1156652	1156652	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:1156652C>T	uc021qbr.1	+	5	716	c.669C>T	c.(667-669)ctC>ctT	p.L223L				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	219	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCGAGCTCCTCTCCCACA	0.612000														18			9		0	0	0.000442599	0	0
ADAM30	11085	broad.mit.edu	37	1	120437782	120437783	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:120437782_120437783GG>TT	uc001eij.3	-	0	1365_1366	c.1177_1178CC>AA	c.(1177-1179)cca>AAa	p.P393K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	393	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACCTAGTCCTGGGATATTATTT	0.411000														763			18		0	0	6.4e-05	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681842	69681842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:69681842G>A	uc003hee.3	+	0	130	c.105G>A	c.(103-105)tgG>tgA	p.W35*	UGT2B10_uc011cam.2_Nonsense_Mutation_p.W35*	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	35					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACAGCCTTTGGATGAATATGA	0.438000														33			9		0	0	0.000274275	0	0
KRT74	121391	broad.mit.edu	37	12	52961997	52961997	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:52961997C>T	uc001sap.1	-	6	1359	c.1311G>A	c.(1309-1311)atG>atA	p.M437I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	437	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGGCAATCTCCATGTCCAGGG	0.642000														56			6		0	0	0.000157383	0	0
abParts	0	broad.mit.edu	37	14	106866589	106866589	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:106866589C>T	uc021ser.1	-	432		c.13631G>A								Parts of antibodies, mostly variable regions.																		CCTGGCGGATCCAGCTCATCT	0.582000														24			5		0	0	8.12818e-05	0	0
VTA1	51534	broad.mit.edu	37	6	142519717	142519717	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:142519717C>T	uc003qiw.3	+	5	677	c.662C>T	c.(661-663)cCa>cTa	p.P221L	VTA1_uc011edu.2_Missense_Mutation_p.P163L	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	221	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GCACACGCTCCAGCTAATACA	0.433000														33			9		0	0	3.86212e-05	0	0
MMAA	166785	broad.mit.edu	37	4	146560327	146560327	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:146560327C>T	uc003ikh.4	+	1	121	c.36C>T	c.(34-36)ttC>ttT	p.F12F	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	12						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAGCATTTCCTAAAAGGCC	0.438000														130			14		0	0	0.000566183	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999198	3999198	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:3999198C>T	uc002fxe.3	-	10	1904	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	ZZEF1_uc002fxk.1_Missense_Mutation_p.E614K	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	614							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						AAGTGTTCTTCCGCACAAAAT	0.398000														32			53		0	0	0.000147903	0	0
KCNH5	27133	broad.mit.edu	37	14	63473173	63473173	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:63473173A>G	uc001xfx.3	-	2	266	c.215T>C	c.(214-216)tTg>tCg	p.L72S	KCNH5_uc001xfy.3_Missense_Mutation_p.L72S|KCNH5_uc001xfz.1_Missense_Mutation_p.L14S|KCNH5_uc001xga.3_Missense_Mutation_p.L14S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	72	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTGTCAGTCAATTCCCCATA	0.353000														51			6		0	0	8.12818e-05	0	0
abParts	0	broad.mit.edu	37	14	107113761	107113761	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:107113761C>T	uc021ser.1	-	96		c.4468G>A								Parts of antibodies, mostly variable regions.																		TAATACACAGCCATGTCCTCA	0.512000														73			8		0	0	0.000442599	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901588	2901588	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:2901588C>A	uc010ckd.3	+	13	1208	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	RAP1GAP2_uc010cke.3_Missense_Mutation_p.P358Q	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	373	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCGTTTGTCCCAGACATGATA	0.473000														103			9		0.000274275	0.00461763	0.000274275	1	0
DSG1	1828	broad.mit.edu	37	18	28906962	28906962	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:28906962C>T	uc002kwp.3	+	2	422	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	70	Cadherin 1.				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	p.P69Q(1)		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)			GGAACCCAATCGCCAAAGTAG	0.413000														76			9		0	0	3.86212e-05	0	0
DNAH1	25981	broad.mit.edu	37	3	52361988	52361988	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:52361988C>T	uc011bef.2	+	5	1090	c.829C>T	c.(829-831)Ccg>Tcg	p.P277S	DNAH1_uc003ddt.1_Missense_Mutation_p.P277S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	277	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAACCTGTCCCGGGAAAAGC	0.552000														16			8		0	0	0.000274275	0	0
ANAPC5	51433	broad.mit.edu	37	12	121756129	121756130	+	Missense_Mutation	DNP	CG	AT	AT	rs112808731		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:121756129_121756130CG>AT	uc001uag.3	-	14	1965_1966	c.1843_1844CG>AT	c.(1843-1845)cgg>ATg	p.R615M	ANAPC5_uc010szu.2_Missense_Mutation_p.R281M|ANAPC5_uc001uae.3_Missense_Mutation_p.R179M|ANAPC5_uc010szv.2_Missense_Mutation_p.R217M|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.R503M	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	615					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTACTGTAACCGGTACTCCTTG	0.540000														405			13		0	0	6.4e-05	0	0
AWAT1	158833	broad.mit.edu	37	X	69459652	69459652	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:69459652G>A	uc004dxy.3	+	5	741	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	234					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GTTCCATAAGGATAGCAGGAT	0.463000														40			12		0	0	0.000308642	0	0
CAGE1	285782	broad.mit.edu	37	6	7373880	7373880	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:7373880T>C	uc003mxl.2	-	4	1703	c.1172A>G	c.(1171-1173)aAc>aGc	p.N391S	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.N255S|CAGE1_uc003mxj.3_Missense_Mutation_p.N146S|CAGE1_uc003mxk.2_Missense_Mutation_p.N391S	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	391								p.R391R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTTTGCGTGTTAGCTAAAAC	0.328000														38			34		0	0	0.000339439	0	0
EIF2B2	8892	broad.mit.edu	37	14	75472568	75472569	+	Splice_Site	DNP	GG	TT	TT	rs149784396		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:75472568_75472569GG>TT	uc001xrc.2	+	5	680	c.598_splice	c.e5-1	p.G200_splice		NM_014239	NP_055054	P49770	EI2BB_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2), mRNA.	200					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TCCCATTGCAGGGTCATGAAAT	0.436000														380			12		0	0	6.4e-05	0	0
RADIL	55698	broad.mit.edu	37	7	4917258	4917258	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:4917258C>T	uc003snj.1	-	1	686	c.513G>A	c.(511-513)aaG>aaA	p.K171K	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	171					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGTCCACCTCCTTGGCTGCCA	0.602000														40			29		0	0	0.000491102	0	0
MECOM	2122	broad.mit.edu	37	3	168861491	168861491	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:168861491C>T	uc011bpj.1	-	2	908	c.505G>A	c.(505-507)Gat>Aat	p.D169N	MECOM_uc003ffj.3_Missense_Mutation_p.D45N|MECOM_uc003ffi.3_5'UTR|MECOM_uc011bpi.1_5'UTR|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_5'UTR|MECOM_uc003ffl.2_Missense_Mutation_p.D141N|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Missense_Mutation_p.D169N|MECOM_uc003ffm.1_Missense_Mutation_p.D45N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.T168T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATACCTGATCATTTATCTGG	0.413000														49			26		0	0	0.000117367	0	0
MEOX1	4222	broad.mit.edu	37	17	41719371	41719371	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:41719371C>T	uc002idz.3	-	2	701	c.672G>A	c.(670-672)atG>atA	p.M224I	MEOX1_uc002iea.3_Missense_Mutation_p.E167K|MEOX1_uc002ieb.3_Missense_Mutation_p.M109I	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	224						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCTTCCACTTCATCCTTCGGT	0.582000														90			20		0	0	0.00047179	0	0
LGR5	8549	broad.mit.edu	37	12	71978049	71978050	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:71978049_71978050GG>TT	uc001swl.3	+	17	2307_2308	c.2259_2260GG>TT	c.(2257-2262)aaggga>aaTTga	p.753_754KG>N*	LGR5_uc001swm.3_Nonsense_Mutation_p.729_730KG>N*|LGR5_uc021rar.1_Nonsense_Mutation_p.681_682KG>N*|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	753						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATTTGGACAAGGGAGACCTGGA	0.485000														551			13		0	0	6.4e-05	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486689	20486689	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:20486689C>T	uc010bwe.3	+	7	1139	c.900C>T	c.(898-900)ctC>ctT	p.L300L	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.L221L|ACSM2A_uc002dhf.4_Silent_p.L300L|ACSM2A_uc002dhg.4_Silent_p.L300L|ACSM2A_uc010vay.2_Silent_p.L221L|ACSM2A_uc002dhh.4_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	300					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.T299A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCAGACACTCTCCAGTTATC	0.473000														53			7		0	0	0.000274275	0	0
VSIG10	54621	broad.mit.edu	37	12	118511792	118511792	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:118511792G>A	uc001tws.3	-	4	1265	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	311	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						AGAAGGGAGGGACCCCCTGGT	0.493000														11			17		0	0	0.000229342	0	0
ZNF831	128611	broad.mit.edu	37	20	57782092	57782092	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:57782092G>A	uc002yan.3	+	2	4008	c.4008G>A	c.(4006-4008)caG>caA	p.Q1336Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1336						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCTGGGCAGACCTCTTCAG	0.582000														52			12		0	0	0.000219431	0	0
C20orf196	149840	broad.mit.edu	37	20	5843845	5843845	+	Silent	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:5843845T>G	uc002wmf.3	+	2	441	c.354T>G	c.(352-354)tcT>tcG	p.S118S		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	118										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACTCACTCTCTGCATCTGTCT	0.498000														55			6		0	0	0.000442599	0	0
CRB1	23418	broad.mit.edu	37	1	197391011	197391011	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:197391011G>A	uc001gtz.3	+	5	2262	c.2053G>A	c.(2053-2055)Gga>Aga	p.G685R	CRB1_uc010poz.2_Missense_Mutation_p.G616R|CRB1_uc009wza.3_Missense_Mutation_p.G573R|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G685R|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.G166R|CRB1_uc001gub.1_Missense_Mutation_p.G334R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	685	EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCAAAGCAGAGGACGCTGCAT	0.507000														29			6		0	0	3.59834e-05	0	0
GPR50	9248	broad.mit.edu	37	X	150348464	150348464	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:150348464G>A	uc010ntg.2	+	1	547	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	GPR50_uc011myc.2_Missense_Mutation_p.E137K	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	137					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAGTACGAACGGATCTT	0.542000														14			28		0	0	0.000147802	0	0
RSBN1	54665	broad.mit.edu	37	1	114310987	114310987	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:114310987G>A	uc001edq.3	-	4	1719	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	561						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGTACTGGAGATTTTTTA	0.398000														61			5		0	0	0.000602214	0	0
SLFN11	91607	broad.mit.edu	37	17	33680866	33680866	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:33680866T>A	uc002hjg.4	-	3	1658	c.1411A>T	c.(1411-1413)Att>Ttt	p.I471F	SLFN11_uc010ctr.3_Missense_Mutation_p.I471F|SLFN11_uc010ctp.3_Missense_Mutation_p.I471F|SLFN11_uc010ctq.3_Missense_Mutation_p.I471F|SLFN11_uc002hjh.4_Missense_Mutation_p.I471F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	471						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGTAGAGAATGGGGGTGCTG	0.512000														14			6		0	0	8.12818e-05	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379253	23379253	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:23379253C>T	uc002dln.3	+	4	1029	c.853C>T	c.(853-855)Cct>Tct	p.P285S		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	285					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAAGGCACTTCCTTCGGCCAA	0.498000														71			44		0	0	0.000147903	0	0
MALAT1	378938	broad.mit.edu	37	11	65266456	65266456	+	RNA	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:65266456G>A	uc010roh.2	+	0		c.1224G>A								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		GAAGGTGATCGAATTCCGGTG	0.498000														92			33		0	0	0.000228196	0	0
C9orf84	158401	broad.mit.edu	37	9	114449059	114449059	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:114449059C>T	uc004bfr.3	-	25	4461	c.4326G>A	c.(4324-4326)agG>agA	p.R1442R	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.R1403R|C9orf84_uc010mug.3_Silent_p.R1353R	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1442										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCAAAAAAACCTCAGCCGAG	0.388000														79			20		0	0	0.000375601	0	0
CDC123	8872	broad.mit.edu	37	10	12259404	12259405	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:12259404_12259405CC>AA	uc001ill.3	+	5	662_663	c.378_379CC>AA	c.(376-381)accctc>acAAtc	p.L127I		NM_006023	NP_006014	O75794	CD123_HUMAN	Homo sapiens cell division cycle 123 homolog (S. cerevisiae) (CDC123), mRNA.	127					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						AATGTAAAACCCTCAGCGACAT	0.386000														650			17		0	0	6.4e-05	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049495	42049495	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:42049495G>A	uc001cgz.4	-	3	2187	c.974C>T	c.(973-975)tCc>tTc	p.S325F	HIVEP3_uc001cha.4_Missense_Mutation_p.S325F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	325	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTGGGACAGGGAACAGCGTTC	0.602000														86			13		0	0	0.000151284	0	0
RBP3	5949	broad.mit.edu	37	10	48389376	48389376	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:48389376G>A	uc001jez.3	-	0	1616	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	501	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACGGGGCCGGCCTCAGGGCC	0.642000														15			11		0	0	0.000151284	0	0
TMED9	54732	broad.mit.edu	37	5	177022360	177022360	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:177022360C>T	uc003mhx.3	+	4	654	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 9 (TMED9), mRNA.	217					transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGTGGCCATCGGTGTCTGGC	0.612000														58			28		0	0	0.00058488	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435601	5435601	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:5435601G>A	uc001ihy.3	-	3	1258	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	TUBAL3_uc001ihz.3_Missense_Mutation_p.A367V	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	407					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TGCTCTCTTGGCGTACATGAG	0.577000														27			8		0	0	0.000442599	0	0
ICA1L	130026	broad.mit.edu	37	2	203680687	203680688	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:203680687_203680688GG>TT	uc002uzh.1	-	7	893_894	c.729_730CC>AA	c.(727-732)tcccaa>tcAAaa	p.Q244K	ICA1L_uc002uzi.1_Missense_Mutation_p.Q244K|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	244	AH.							p.S243P(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAATTTGGGACATCATTC	0.381000														365			11		0	0	6.4e-05	0	0
OPLAH	26873	broad.mit.edu	37	8	145114770	145114770	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:145114770C>T	uc003zar.3	-	1	248	c.166G>A	c.(166-168)Gag>Aag	p.E56K	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	56							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCCACCTGCTCCAGGATGCGG	0.697000														47			5		0	0	8.12818e-05	0	0
GPR142	350383	broad.mit.edu	37	17	72368703	72368703	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:72368703G>A	uc021ucp.1	+	3	1353	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	GPR142_uc010wqy.2_Missense_Mutation_p.M451I	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	451						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.A447E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGCCTGTGATGGAGCCTCCGG	0.632000														17			14		0	0	0.000422831	0	0
RCOR3	55758	broad.mit.edu	37	1	211449675	211449676	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:211449675_211449676CG>AT	uc010psw.2	+	4	626_627	c.431_432CG>AT	c.(430-432)ccg>cAT	p.P144H	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.P144H|RCOR3_uc001hif.3_Missense_Mutation_p.P144H|RCOR3_uc001hig.3_Missense_Mutation_p.P86H	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ACTCCCTTTCCGGATGAGTGGA	0.396000														161			6		0	0	6.4e-05	0	0
RAG2	5897	broad.mit.edu	37	11	36615566	36615566	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:36615566C>A	uc021qge.1	-	0	153	c.153G>T	c.(151-153)aaG>aaT	p.K51N	RAG2_uc021qgc.1_Missense_Mutation_p.K51N|RAG2_uc021qgd.1_Missense_Mutation_p.K51N|RAG2_uc001mwv.4_Missense_Mutation_p.K51N|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	51					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CATGGTTATGCTTTACATCCA	0.458000									Familial Hemophagocytic Lymphohistiocytosis					108			19		8.00594e-06	0.00013572	9.7654e-05	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105368372	105368372	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:105368372C>T	uc003ylx.1	+	3	1408	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	453					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGCTTCCAGTCCTGAAAATGA	0.428000														20			5		0	0	8.12818e-05	0	0
WDR6	11180	broad.mit.edu	37	3	49050863	49050863	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:49050863C>T	uc003cvj.2	+	1	2124	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Silent_p.F110F|WDR6_uc010hkn.2_Silent_p.F606F|WDR6_uc011bbz.1_Silent_p.F581F	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	632					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TCCTGGGTTTCCATGCCAATG	0.567000														32			5		0	0	0.000602214	0	0
KDM3B	51780	broad.mit.edu	37	5	137763749	137763750	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:137763749_137763750CC>AA	uc003lcy.1	+	19	4927_4928	c.4727_4728CC>AA	c.(4726-4728)ccc>cAA	p.P1576Q	KDM3B_uc010jew.1_Missense_Mutation_p.P1232Q|KDM3B_uc011cys.1_Missense_Mutation_p.P608Q	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1576	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTTGGGATTCCCATCGGGGAGG	0.421000														340			10		0	0	6.4e-05	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841458	8841458	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:8841458C>T	uc010xkg.2	+	0	68	c.68C>T	c.(67-69)tCa>tTa	p.S23L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCAGGATCACGCCAGCTC	0.527000														42			8		0	0	0.000274275	0	0
BRD8	10902	broad.mit.edu	37	5	137476450	137476450	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:137476450G>A	uc003lcf.1	-	25	3614	c.3559C>T	c.(3559-3561)Cat>Tat	p.H1187Y	NME5_uc003lce.3_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1187	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATACATGATGATCAGAGTCA	0.463000														231			97		0	0	0.000147903	0	0
HTR7	3363	broad.mit.edu	37	10	92509030	92509030	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:92509030G>A	uc001kha.3	-	1	1104	c.861C>T	c.(859-861)atC>atT	p.I287I	HTR7_uc001kgz.3_Silent_p.I287I|HTR7_uc001khb.3_Silent_p.I287I	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	287					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CATTCAGGGCGATGACGCTGT	0.488000														17			4		0	0	0.000602214	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629388	156629388	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:156629388G>A	uc003iov.3	+	6	854	c.318_splice	c.e6-1	p.R106_splice	GUCY1A3_uc003iou.2_Splice_Site_p.R106_splice|GUCY1A3_uc010iqc.2_Splice_Site_p.R106_splice|GUCY1A3_uc010iqd.3_Splice_Site_p.R106_splice|GUCY1A3_uc003iow.3_Splice_Site_p.R106_splice|GUCY1A3_uc003iox.3_Splice_Site_p.R106_splice|GUCY1A3_uc010iqe.3_Splice_Site|GUCY1A3_uc003ioy.3_Splice_Site_p.R106_splice|GUCY1A3_uc003ioz.3_Splice_Site|GUCY1A3_uc003ipa.3_Splice_Site|GUCY1A3_uc003ipb.3_Splice_Site_p.R106_splice	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	106					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATATTTCCAGGAAATCTTTGG	0.264000														58			8		0	0	3.86212e-05	0	0
FAM35B2	439965	broad.mit.edu	37	10	47380876	47380876	+	RNA	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:47380876G>A	uc010qfz.2	+	0		c.1157G>A								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		TACCTCTGAAGATAAAGTGGC	0.393000														89			58		0	0	0.000147903	0	0
ZNF323	64288	broad.mit.edu	37	6	28294168	28294168	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:28294168G>A	uc003nlc.3	-	3	1385	c.996C>T	c.(994-996)ttC>ttT	p.F332F	ZNF323_uc003nld.3_Silent_p.F332F|ZNF323_uc010jra.3_Silent_p.F332F|ZNF323_uc003nla.3_Silent_p.F332F|ZNF323_uc003nlb.3_Silent_p.F173F|ZNF323_uc010jrb.3_Silent_p.F173F|ZNF323_uc021yrs.1_Silent_p.F332F|ZNF323_uc021yrt.1_Silent_p.F173F	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	332					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						AGCTGAGGAGGAAAGCCTTCC	0.507000														102			30		0	0	0.000409698	0	0
SP1	6667	broad.mit.edu	37	12	53776730	53776730	+	Silent	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:53776730C>A	uc001scw.3	+	2	1096	c.999C>A	c.(997-999)acC>acA	p.T333T	SP1_uc021qyf.1_Silent_p.T285T|SP1_uc010sog.2_Silent_p.T326T	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	333	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTACTACCACCAGCAACATGG	0.502000														74			6		5.18039e-06	8.78961e-05	0.000157383	1	0
SPATA2	9825	broad.mit.edu	37	20	48522753	48522753	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:48522753G>A	uc010gie.3	-	2	1316	c.966C>T	c.(964-966)gcC>gcT	p.A322A	SPATA2_uc002xuw.3_Silent_p.A322A|SPATA2_uc010zyn.2_Silent_p.A185A	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	322					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGCGCAGCAGGGCCGGGCCGT	0.662000														65			18		0	0	0.000375601	0	0
IL7R	3575	broad.mit.edu	37	5	35873713	35873713	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:35873713T>G	uc003jjs.3	+	4	758	c.669T>G	c.(667-669)agT>agG	p.S223R	IL7R_uc011coo.2_Missense_Mutation_p.S223R|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	223	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P222T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGAGTCCAAGTTATTACTTCA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							58			10		0	0	0.00010058	0	0
TM4SF4	7104	broad.mit.edu	37	3	149192792	149192792	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:149192792C>T	uc003exd.2	+	0	425	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	43						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GACCACCTTTCCCAAGAGATC	0.473000														48			5		0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196851789	196851789	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:196851789C>T	uc002utj.4	-	14	1855	c.1754_splice	c.e14+1	p.R585_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	585	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACATAAATACCTTGTATTTA	0.343000														42			47		0	0	0.000147903	0	0
CTC1	80169	broad.mit.edu	37	17	8132524	8132524	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:8132524C>T	uc002gkq.4	-	20	3216	c.3157_splice	c.e20-1	p.G1053_splice	CTC1_uc010cnv.3_Intron	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1053					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GTGCACTTTCCCTGGGATGAA	0.552000														83			45		0	0	0.000125731	0	0
USP29	57663	broad.mit.edu	37	19	57641715	57641716	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:57641715_57641716GG>TT	uc002qny.3	+	3	2028_2029	c.1672_1673GG>TT	c.(1672-1674)ggg>TTg	p.G558L	USP29_uc021vci.1_Missense_Mutation_p.G558L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	558					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCACCTGTTGGGAAATGTGAA	0.426000														248			10		0	0	6.4e-05	0	0
HECW1	23072	broad.mit.edu	37	7	43548571	43548571	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:43548571G>A	uc003tid.1	+	23	4475	c.3870G>A	c.(3868-3870)ctG>ctA	p.L1290L	HECW1_uc011kbi.1_Silent_p.L1256L|LOC100506895_uc003tig.1_Non-coding_Transcript	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1290	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTGCAGCCTGGACTACAGTG	0.527000														79			32		0	0	0.000109025	0	0
CDHR2	54825	broad.mit.edu	37	5	176011422	176011422	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:176011422G>A	uc021yie.1	+	18	2414	c.2140G>A	c.(2140-2142)Ggc>Agc	p.G714S	CDHR2_uc003mem.2_Missense_Mutation_p.G714S|CDHR2_uc003men.1_Missense_Mutation_p.G714S	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	714	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGTGCTAGTGGGCGTGGTGAA	0.612000														60			20		0	0	0.000175454	0	0
SEC16A	9919	broad.mit.edu	37	9	139371752	139371752	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:139371752G>A	uc004chx.3	-	2	625	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.P106S|SEC16A_uc010nbn.3_Missense_Mutation_p.P106S|SEC16A_uc010nbo.1_Missense_Mutation_p.P106S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2070					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTCACAGGGTCCCTGAGAG	0.587000														51			27		0	0	0.000184323	0	0
ZNF618	114991	broad.mit.edu	37	9	116811415	116811415	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:116811415C>T	uc004bid.3	+	14	1932	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	ZNF618_uc004bic.3_Silent_p.I518I|ZNF618_uc011lxi.2_Silent_p.I578I|ZNF618_uc011lxj.2_Silent_p.I579I|ZNF618_uc010mvb.3_Silent_p.I201I	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I611I(1)|p.I518I(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGTCGGAGATCAGGACAGTGT	0.607000														70			24		0	0	0.000227799	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318413	41318414	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:41318413_41318414GG>TT	uc003azh.3	+	7	1233_1234	c.1132_1133GG>TT	c.(1132-1134)ggg>TTg	p.G378L	XPNPEP3_uc003azi.3_Missense_Mutation_p.G299L|XPNPEP3_uc011aoy.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	378					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTGCTTCCCTGGGACAAGCTTG	0.475000														291			9		0	0	6.4e-05	0	0
PALMD	54873	broad.mit.edu	37	1	100152699	100152699	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:100152699G>A	uc001dsg.3	+	5	911	c.468G>A	c.(466-468)agG>agA	p.R156R		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	156					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTAGGTTAAGGAAGGAGATAA	0.318000														70			16		0	0	0.000229342	0	0
CENPF	1063	broad.mit.edu	37	1	214813547	214813547	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:214813547G>C	uc001hkm.3	+	11	2040	c.1866G>C	c.(1864-1866)tgG>tgC	p.W622C		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	622					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.W622*(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTTCTTGTTGGAAAAGTGAAA	0.338000														74			9		0	0	3.86212e-05	0	0
RIPK4	54101	broad.mit.edu	37	21	43162041	43162041	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:43162041C>T	uc002yzn.1	-	7	1360	c.1312G>A	c.(1312-1314)Ggt>Agt	p.G438S		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	438						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGCTGGCACCGCTGTCCAGT	0.627000														73			38		0	0	0.000159656	0	0
CP	1356	broad.mit.edu	37	3	148903071	148903072	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:148903071_148903072GG>TT	uc003ewy.4	-	11	2492_2493	c.2239_2240CC>AA	c.(2239-2241)cca>AAa	p.P747K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.P528K|CP_uc003ewz.3_Missense_Mutation_p.P747K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	747	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTCCCTTTGTGGGGAATAATCC	0.460000														221			9		0	0	6.4e-05	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111541123	111541124	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:111541123_111541124GG>TT	uc003kpv.1	-	13	1530_1531	c.1256_1257CC>AA	c.(1255-1257)ccc>cAA	p.P419Q	EPB41L4A_uc003kpp.1_Missense_Mutation_p.P46Q	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	419						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.P419H(2)|p.P46H(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTTACCTCTGGGGGCCATTTTC	0.391000														499			12		0	0	6.4e-05	0	0
WDR12	55759	broad.mit.edu	37	2	203764333	203764334	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:203764333_203764334CC>AA	uc002uzl.3	-	3	1008_1009	c.258_259GG>TT	c.(256-261)gtggag>gtTTag	p.E87*		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	87					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GTATACTTCTCCACGTATTCTA	0.411000														380			10		0	0	6.4e-05	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309433	22309433	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:22309433C>T	uc001wbx.2	+	0	113	c.12C>T	c.(10-12)tcC>tcT	p.S4S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		TGATGATATCCTTGAGAGTTT	0.353000														44			14		0	0	0.000422831	0	0
SOX7	83595	broad.mit.edu	37	8	10583632	10583632	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:10583632G>A	uc011kwz.2	-	5	972	c.939C>T	c.(937-939)gcC>gcT	p.A313A	SOX7_uc003wtf.3_Silent_p.A261A	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	261	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ACTGGCCAAGGGCCAGGGAGC	0.682000														43			25		0	0	0.000184323	0	0
KRT71	112802	broad.mit.edu	37	12	52941659	52941659	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:52941659G>A	uc001sao.3	-	5	1156	c.1086C>T	c.(1084-1086)atC>atT	p.I362I		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	362	Coil 2.|Rod.						structural molecule activity	p.I362I(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCACGTTCTCGATCTCTGAGC	0.562000														164			23		0	0	9.22233e-05	0	0
NME9	347736	broad.mit.edu	37	3	138033207	138033208	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:138033207_138033208GG>TT	uc003esg.3	-	5	454_455	c.426_427CC>AA	c.(424-429)tcccat>tcAAat	p.H143N	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.H58N|NME9_uc003ese.1_Missense_Mutation_p.H82N	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	143					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTCTTTCCATGGGAAACACATT	0.347000														675			24		0	0	6.4e-05	0	0
UPF2	26019	broad.mit.edu	37	10	12021116	12021117	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:12021116_12021117GG>TT	uc001ila.3	-	7	2366_2367	c.1892_1893CC>AA	c.(1891-1893)ccc>cAA	p.P631Q	UPF2_uc001ilb.3_Missense_Mutation_p.P631Q|UPF2_uc001ilc.3_Missense_Mutation_p.P631Q|UPF2_uc009xiz.2_Missense_Mutation_p.P631Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	631	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAGACATGCAGGGATGCAATGT	0.332000														382			15		0	0	6.4e-05	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497688	1497688	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:1497688T>C	uc003wpl.3	+	1	926	c.829T>C	c.(829-831)Ttg>Ctg	p.L277L	DLGAP2_uc003wpm.3_Silent_p.L277L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	356					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGTGAGGGGTTGGCGCTGAC	0.652000														20			15		0	0	7.07596e-05	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283074	69283074	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:69283074G>A	uc004dxu.1	+	0	734	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	234	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GACCCCCATCGAGGTGATCCA	0.617000														6			11		0	0	6.40141e-05	0	0
SNF8	11267	broad.mit.edu	37	17	47021290	47021290	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:47021290G>A	uc002ioj.3	-	1	160	c.102C>T	c.(100-102)gcC>gcT	p.A34A	SNF8_uc002iok.3_Silent_p.A34A	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	Homo sapiens SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) (SNF8), mRNA.	34					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						GACTTACCTGGGCTAGCTGGT	0.557000														57			19		0	0	0.00047179	0	0
MKRN3	7681	broad.mit.edu	37	15	23812282	23812282	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:23812282G>A	uc001ywh.4	+	0	1829	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	451						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R450G(1)|p.R450Q(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGTGCGAATGGGAGAGGGCA	0.522000														62			6		0	0	3.59834e-05	0	0
BCAS1	8537	broad.mit.edu	37	20	52569994	52569994	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:52569994G>A	uc002xws.2	-	10	1995	c.1657C>T	c.(1657-1659)Ctt>Ttt	p.L553F	BCAS1_uc010zza.1_Missense_Mutation_p.L219F|BCAS1_uc010zzb.1_Missense_Mutation_p.L479F|BCAS1_uc010gim.2_Missense_Mutation_p.L409F|BCAS1_uc002xwt.2_Missense_Mutation_p.L539F|BCAS1_uc010gil.1_Missense_Mutation_p.L475F	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	553						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AAGCCCCCAAGGGACTGCTGC	0.532000														48			14		0	0	7.07596e-05	0	0
ZNF114	163071	broad.mit.edu	37	19	48789857	48789857	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:48789857C>T	uc002pil.1	+	5	1473	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	ZNF114_uc010elv.1_Missense_Mutation_p.H326Y|ZNF114_uc002pim.1_Missense_Mutation_p.H326Y|ZNF114_uc002pin.2_Missense_Mutation_p.H292Y	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TATGAAAATTCACACTGGAGA	0.383000														116			25		0	0	0.000586117	0	0
XIRP1	165904	broad.mit.edu	37	3	39225770	39225770	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:39225770C>T	uc003cjk.2	-	1	5396	c.5167G>A	c.(5167-5169)Gac>Aac	p.D1723N	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.D406N|XIRP1_uc021wvz.1_Missense_Mutation_p.D1723N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1723	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGGTGATGTCCTTCTTCCCA	0.582000														35			14		0	0	0.000151284	0	0
MYO16	23026	broad.mit.edu	37	13	109475492	109475492	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:109475492T>G	uc010agk.2	+	8	1585	c.963T>G	c.(961-963)ttT>ttG	p.F321L	MYO16_uc001vqt.1_Missense_Mutation_p.F299L|MYO16_uc001vqu.1_Missense_Mutation_p.F99L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	299					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTCTGAGTTTATTGAGGAAA	0.358000														32			7		0	0	0.000157383	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554818	40554818	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:40554818G>A	uc003xnr.3	-	3	441	c.295C>T	c.(295-297)Cac>Tac	p.H99Y	ZMAT4_uc003xns.3_Missense_Mutation_p.H99Y	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	99						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CTCTTGGCGTGGATTTTGCCT	0.493000														67			29		0	0	0.000279167	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215761	20215761	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:20215761C>T	uc010tkt.2	+	0	175	c.175C>T	c.(175-177)Cct>Tct	p.P59S		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P59L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCCAATCTCCTATGTATTA	0.408000														21			7		0	0	3.86212e-05	0	0
FBXW12	285231	broad.mit.edu	37	3	48414292	48414292	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:48414292G>A	uc003csr.3	+	1	221	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	FBXW12_uc010hjv.3_Intron|FBXW12_uc003css.3_Missense_Mutation_p.R12Q|FBXW12_uc010hjw.3_Intron	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	12	F-box.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTTTGAAGCGAATCTTCTCT	0.537000														88			32		0	0	0.00058488	0	0
EPHA6	285220	broad.mit.edu	37	3	97467475	97467475	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:97467475G>A	uc010how.1	+	17	3366	c.3323G>A	c.(3322-3324)cGa>cAa	p.R1108Q		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	1013						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACCAGAGACGAATAGTCAGC	0.428000														25			18		0	0	0.000229342	0	0
FAM71B	153745	broad.mit.edu	37	5	156589674	156589674	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:156589674G>A	uc003lwn.3	-	1	1702	c.1602C>T	c.(1600-1602)atC>atT	p.I534I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	534						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAAAAGAGCTGATCTTACTGG	0.478000														536			131		0	0	0.000147903	0	0
ZNF98	148198	broad.mit.edu	37	19	22585597	22585597	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:22585597G>A	uc002nqt.2	-	2	369	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	83	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)				CTACCTGGGGGTTCAGTTACC	0.403000														88			13		0	0	7.07596e-05	0	0
CERS3	204219	broad.mit.edu	37	15	100942940	100942940	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:100942940G>A	uc002bwa.3	-	13	1734	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	CERS3_uc002bvz.3_Missense_Mutation_p.P377L|CERS3_uc002bwb.3_Missense_Mutation_p.P377L	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	377						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGGCCATTGGGAATGAGGTG	0.537000														38			13		0	0	0.000219431	0	0
SPINK13	153218	broad.mit.edu	37	5	147649650	147649650	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:147649650C>T	uc003lpc.3	+	1	218	c.15C>T	c.(13-15)ccC>ccT	p.P5P	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	5						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						CTGCCTTTCCCCACAAGATTA	0.398000														84			61		0	0	0.000147903	0	0
PSME3	10197	broad.mit.edu	37	17	40986569	40986569	+	Nonsense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:40986569T>G	uc002ibq.3	+	2	339	c.113T>G	c.(112-114)tTa>tGa	p.L38*	PSME3_uc002ibp.3_5'UTR|PSME3_uc002ibr.3_Nonsense_Mutation_p.L38*|PSME3_uc002ibs.3_Nonsense_Mutation_p.L49*|PSME3_uc010whd.2_5'UTR	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	38					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCAAAGAAGTTATTAGAACTT	0.398000														119			35		0	0	0.000589545	0	0
PIK3CB	5291	broad.mit.edu	37	3	138431129	138431130	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:138431129_138431130CC>AA	uc011bmq.2	-	7	1319_1320	c.1319_1320GG>TT	c.(1318-1320)tgg>tTT	p.W440F	PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.W44F	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	440	C2 PI3K-type.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCGTATTTACCCACGCTACAGG	0.337000														604			12		0	0	6.4e-05	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44023054	44023055	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:44023054_44023055CG>AT	uc002rtl.3	+	6	636_637	c.536_537CG>AT	c.(535-537)ccg>cAT	p.P179H	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.P178H|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.P52H|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.P52H	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	178						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	p.P178P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCCATTTCCGGTACCTCTGG	0.347000														325			10		0	0	6.4e-05	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6530406	6530406	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:6530406C>T	uc001anp.1	-	16	2419	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	PLEKHG5_uc001ann.1_Missense_Mutation_p.E601K|PLEKHG5_uc001ano.1_Missense_Mutation_p.E620K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E641K|PLEKHG5_uc001anj.1_Missense_Mutation_p.E125K|PLEKHG5_uc009vma.1_Missense_Mutation_p.E404K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E633K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E564K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E564K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E564K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E564K	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	620	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGAAATTCCTTCAGGAGC	0.637000														21			4		0	0	0.00024832	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342587	117342587	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:117342587C>T	uc001prh.1	-	14	3132	c.3130G>A	c.(3130-3132)Gcc>Acc	p.A1044T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	984	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTCACCGGCCTCCTCAGTG	0.587000														79			14		0	0	9.7654e-05	0	0
CA10	56934	broad.mit.edu	37	17	49710851	49710851	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:49710851T>G	uc002itv.4	-	8	1704	c.968A>C	c.(967-969)aAg>aCg	p.K323T	CA10_uc002itw.4_Missense_Mutation_p.K317T|CA10_uc002itx.4_Missense_Mutation_p.K317T|CA10_uc002ity.4_Missense_Mutation_p.K317T|CA10_uc002itz.2_Missense_Mutation_p.K317T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	317					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ATACTGAAGCTTCTGGGCTCG	0.507000														37			5		0	0	8.12818e-05	0	0
ME3	10873	broad.mit.edu	37	11	86382865	86382865	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:86382865G>C	uc001pbz.3	-	0	376	c.122C>G	c.(121-123)gCg>gGg	p.A41G	ME3_uc001pca.3_Missense_Mutation_p.A41G|ME3_uc009yvk.3_Missense_Mutation_p.A41G|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	41					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CACAGGGCGCGCCGGGCCAGG	0.726000														39			7		0	0	0.000442599	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153407	133153407	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:133153407C>T	uc003ytj.3	-	9	1659	c.1434G>A	c.(1432-1434)atG>atA	p.M478I	KCNQ3_uc003yti.3_Missense_Mutation_p.M358I|KCNQ3_uc010mdt.3_Missense_Mutation_p.M478I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	478					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R477H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGTAGGCTTTCATGCGGAAGG	0.478000														131			49		0	0	0.000147903	0	0
LRGUK	136332	broad.mit.edu	37	7	133943049	133943049	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:133943049C>T	uc003vrm.1	+	18	2255	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	747							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTCATTGTTTCGGTTCTGTCC	0.448000														64			42		0	0	0.000147903	0	0
ZNF135	7694	broad.mit.edu	37	19	58578489	58578489	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:58578489C>T	uc002qrg.3	+	3	712	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	ZNF135_uc002qre.3_Missense_Mutation_p.P213S|ZNF135_uc002qrf.3_Missense_Mutation_p.P171S|ZNF135_uc010yhq.2_Missense_Mutation_p.P225S|ZNF135_uc010yhr.2_Missense_Mutation_p.P34S|ZNF135_uc002qrd.2_Missense_Mutation_p.P225S|ZNF135_uc021vcu.1_Missense_Mutation_p.T105I	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	225					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAAGAGAAACCCTACAAATG	0.473000														44			41		0	0	0.000228196	0	0
RIF1	55183	broad.mit.edu	37	2	152319852	152319852	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:152319852C>T	uc002txm.3	+	29	3979	c.3818C>T	c.(3817-3819)tCa>tTa	p.S1273L	RIF1_uc002txn.3_Missense_Mutation_p.S1273L|RIF1_uc002txl.3_Missense_Mutation_p.S1273L|RIF1_uc002txo.3_Missense_Mutation_p.S1273L|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1273					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GGGACTTTTTCAAAATCTGAT	0.343000														123			45		0	0	0.000147903	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19276199	19276199	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:19276199G>A	uc011kyn.2	-	7	2259	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.H399Y|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.H399Y	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	399					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		ACTGCATCATGGTGGCCGTAT	0.453000														28			17		0	0	9.7654e-05	0	0
PREX2	80243	broad.mit.edu	37	8	68992729	68992729	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:68992729C>T	uc003xxv.1	+	15	1721	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L	PREX2_uc003xxu.1_Missense_Mutation_p.S565L|PREX2_uc011lez.1_Missense_Mutation_p.S500L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	565	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.S565L(3)|p.S565fs*3(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGTTTTTTTTCGGATGAGGAA	0.323000														123			10		0	0	0.00010058	0	0
LRRC7	57554	broad.mit.edu	37	1	70503885	70503885	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:70503885C>T	uc001dep.3	+	18	2294	c.2264C>T	c.(2263-2265)cCt>cTt	p.P755L	LRRC7_uc009wbg.3_Missense_Mutation_p.P39L|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	755						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCACAGCGTCCTGACCGGCTG	0.517000														105			60		0	0	0.000147903	0	0
DCX	1641	broad.mit.edu	37	X	110653511	110653511	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:110653511C>T	uc004epd.3	-	1	531	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	DCX_uc011msv.2_Missense_Mutation_p.R120Q|DCX_uc004epe.3_Missense_Mutation_p.R39Q|DCX_uc004epf.3_Missense_Mutation_p.R39Q|DCX_uc004epg.3_Missense_Mutation_p.R39Q	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	120					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGTTCTGGTTCGGTAGAAGCT	0.527000														10			12		0	0	0.00010058	0	0
LILRP2	79166	broad.mit.edu	37	19	55221523	55221523	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:55221523C>T	uc002qgs.1	+	0		c.1923C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGGCCAACTTCACCCTGGGCC	0.642000														20			8		0	0	0.000442599	0	0
TTK	7272	broad.mit.edu	37	6	80744798	80744798	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:80744798G>A	uc003pjc.3	+	14	1822	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	TTK_uc003pjb.4_Missense_Mutation_p.E570K	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	571	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E555K(1)|p.R571Q(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTACCGGAACGAAATAGCTTA	0.284000														62			25		0	0	9.22233e-05	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841468	8841468	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:8841468C>T	uc010xkg.2	+	0	78	c.78C>T	c.(76-78)ctC>ctT	p.L26L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACGCCAGCTCCTCTTCTCCC	0.527000														44			13		0	0	0.000151284	0	0
MAP3K5	4217	broad.mit.edu	37	6	136935337	136935337	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:136935337C>T	uc003qhc.3	-	15	2599	c.2238G>A	c.(2236-2238)gaG>gaA	p.E746E	MAP3K5_uc011edj.2_5'UTR|MAP3K5_uc011edk.1_Silent_p.E591E	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	746	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAAACCATTCTCACTGAAAG	0.393000														76			35		0	0	0.000491102	0	0
MBD5	55777	broad.mit.edu	37	2	149247902	149247902	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:149247902C>T	uc002twm.4	+	11	4999	c.4002C>T	c.(4000-4002)atC>atT	p.I1334I	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.I592I|MBD5_uc002twp.3_Silent_p.I384I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1334						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAGACTACATCCATTACAATG	0.443000														26			13		0	0	0.000151284	0	0
FGD2	221472	broad.mit.edu	37	6	36976697	36976697	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:36976697G>A	uc010jwp.1	+	1	327	c.156G>A	c.(154-156)cgG>cgA	p.R52R	FGD2_uc003onf.3_Silent_p.R52R|FGD2_uc011dtu.1_Silent_p.R52R|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	52					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.R52W(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAGGACCACGGGAGAAGACGA	0.632000														26			9		0	0	0.000274275	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262893	144262894	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:144262893_144262894CC>AA	uc003qjv.3	-	2	2325_2326	c.1059_1060GG>TT	c.(1057-1062)aaggga>aaTTga	p.353_354KG>N*	PLAGL1_uc003qjx.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qjy.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc010khl.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc010khm.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qjz.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qka.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qkb.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qkc.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qkd.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qke.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qkf.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qkg.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qkh.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qki.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qkj.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qkk.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qkl.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qkm.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc010khn.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qkn.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qko.3_Nonsense_Mutation_p.353_354KG>N*|PLAGL1_uc003qkp.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc003qjw.3_Nonsense_Mutation_p.301_302KG>N*|PLAGL1_uc021zgj.1_Nonsense_Mutation_p.301_302KG>N*	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	353					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CCAGCATTTCCCTTAGCCAGAT	0.490000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		634			14		0	0	6.4e-05	0	0
PDE2A	5138	broad.mit.edu	37	11	72289356	72289356	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:72289356C>T	uc010rrc.2	-	29	2782	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	PDE2A_uc001oso.3_Missense_Mutation_p.E825K|PDE2A_uc010rra.2_Missense_Mutation_p.E839K|PDE2A_uc001osn.3_Missense_Mutation_p.E590K|PDE2A_uc010rrb.2_Missense_Mutation_p.E837K|PDE2A_uc010rrd.2_Missense_Mutation_p.E731K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	846	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCCATCATCTCCATCGGCCTG	0.562000														210			51		0	0	0.000147903	0	0
WHSC1	7468	broad.mit.edu	37	4	1957718	1957719	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:1957718_1957719CG>AT	uc003gdz.4	+	14	2860_2861	c.2684_2685CG>AT	c.(2683-2685)ccg>cAT	p.P895H	WHSC1_uc003geb.4_Missense_Mutation_p.P895H|WHSC1_uc003gec.4_Missense_Mutation_p.P895H|WHSC1_uc003ged.4_Missense_Mutation_p.P895H|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Missense_Mutation_p.P114H|WHSC1_uc011bvh.2_Intron|WHSC1_uc010icf.3_Missense_Mutation_p.P243H	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	895	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGATGGTGGCCGGCAGAAGTTT	0.366000			T	IGH@	MM									408			11		0	0	6.4e-05	0	0
FSIP2	401024	broad.mit.edu	37	2	186671662	186671662	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:186671662G>A	uc002upl.3	+	16	17896	c.17896G>A	c.(17896-17898)Gaa>Aaa	p.E5966K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACTACAGATGAAGCACCATC	0.383000														3			10		0	0	3.86212e-05	0	0
PPM1F	9647	broad.mit.edu	37	22	22279998	22279998	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:22279998A>C	uc002zvp.2	-	6	1076	c.929T>G	c.(928-930)gTg>gGg	p.V310G	PPM1F_uc011aik.2_Missense_Mutation_p.V206G|PPM1F_uc002zvq.3_Missense_Mutation_p.V310G	NM_014634	NP_055449	P49593	PPM1F_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA.	310					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CATGTGAGACACAAAGCCACC	0.627000														7			6		0	0	0.000157383	0	0
HAUS8	93323	broad.mit.edu	37	19	17160816	17160816	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:17160816G>A	uc002nfe.3	-	10	1211	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	HAUS8_uc002nff.3_Missense_Mutation_p.S366F	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	367					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GTCGTCCTCAGACAGGGGCGT	0.617000														27			10		0	0	6.40141e-05	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102477202	102477202	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:102477202C>T	uc001yks.2	+	31	6695	c.6531C>T	c.(6529-6531)gcC>gcT	p.A2177A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2177					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATGACTGCCCTTCGAGAGG	0.517000														71			11		0	0	6.40141e-05	0	0
CRB1	23418	broad.mit.edu	37	1	197313541	197313541	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:197313541C>T	uc001gtz.3	+	2	992	c.783C>T	c.(781-783)ctC>ctT	p.L261L	CRB1_uc010poz.2_Silent_p.L192L|CRB1_uc001gty.2_Silent_p.L261L|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.L261L|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	261					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTGTGAACTCAACACTGATG	0.517000														40			22		0	0	0.000229342	0	0
PARK2	5071	broad.mit.edu	37	6	162394449	162394449	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:162394449C>T	uc021zhu.1	-	7	851	c.760_splice	c.e7-1	p.E254_splice	PARK2_uc003qtv.4_Splice_Site|PARK2_uc003qtw.4_Splice_Site_p.E16_splice|PARK2_uc010kkd.3_Splice_Site_p.E16_splice|PARK2_uc003qtx.4_Splice_Site_p.E207_splice|PARK2_uc021zhs.1_Splice_Site_p.E179_splice|PARK2_uc021zht.1_Splice_Site|PARK2_uc003qty.4_Splice_Site_p.E179_splice|PARK2_uc003qtz.4_Splice_Site_p.E58_splice|PARK2_uc021zhv.1_Splice_Site_p.E128_splice|PARK2_uc021zhw.1_Splice_Site_p.E16_splice|PARK2_uc021zhx.1_Splice_Site|PARK2_uc021zhy.1_Splice_Site_p.E207_splice|PARK2_uc010kke.1_Splice_Site_p.E207_splice	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	207					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AAGAAAAATTCCTGAAAGAAA	0.398000														39			13		0	0	0.00010058	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	T	T	rs146629248	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:69403349C>T	uc021xov.1	-	5	1630	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	529					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R529R(4)|p.R529K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATAACTAATCCCTTTTCTTCT	0.408000														11			6		0	0	3.59834e-05	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291305	141291305	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:141291305C>T	uc022cfj.1	-	0	469	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E157K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	157	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGCTTCGTATTTGAGG	0.478000										HNSCC(46;0.14)				76			42		0	0	0.000437636	0	0
HYDIN	54768	broad.mit.edu	37	16	71103214	71103214	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:71103214G>A	uc002ezr.3	-	13	2081	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	HYDIN_uc010cfz.2_Missense_Mutation_p.P389S|HYDIN_uc021tkq.1_Missense_Mutation_p.P644S|HYDIN_uc010vmc.2_Missense_Mutation_p.P661S|HYDIN_uc010vmd.2_Missense_Mutation_p.P671S|HYDIN_uc002ezw.4_Missense_Mutation_p.P661S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	644										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCACAGTCAGGAGAGATGGTG	0.453000														36			4		0	0	3.86212e-05	0	0
CALB1	793	broad.mit.edu	37	8	91072436	91072436	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:91072436C>T	uc003yel.1	-	10	933	c.751G>A	c.(751-753)Gat>Aat	p.D251N	CALB1_uc011lge.1_Missense_Mutation_p.D194N	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	251						nucleus	calcium ion binding|vitamin D binding	p.T250T(1)		breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AGAGCAAGATCCGTTCGGTAC	0.398000														106			15		0	0	7.07596e-05	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478717	85478717	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:85478717G>A	uc002blg.3	+	14	1751	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	SLC28A1_uc010bnb.3_Missense_Mutation_p.E517K|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.E517K|SLC28A1_uc010upg.1_Missense_Mutation_p.E517K	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	517					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGGCCGAGGAGTGGGTCGG	0.617000														120			15		0	0	9.7654e-05	0	0
CAPN5	726	broad.mit.edu	37	11	76834853	76834853	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:76834853C>T	uc009yup.3	+	13	2165	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P	CAPN5_uc001oxx.3_Silent_p.P620P|CAPN5_uc009yuq.3_Silent_p.P656P|CAPN5_uc001oxy.3_Silent_p.P660P|CAPN5_uc001oya.3_Silent_p.P182P	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	620					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCCGGCAGCCCAGCAACCTGC	0.617000														49			7		0	0	8.12818e-05	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461467	138461468	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:138461467_138461468GG>TT	uc011bmq.2	-	2	553_554	c.553_554CC>AA	c.(553-555)cct>AAt	p.P185N		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	185	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAAGTTTTCAGGGATGGATGGT	0.376000														596			24		0	0	6.4e-05	0	0
PRDM9	56979	broad.mit.edu	37	5	23522412	23522412	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:23522412G>A	uc003jgo.3	+	7	691	c.509_splice	c.e7-1	p.E170_splice		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	170					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCCAACCTAGAACTCAGGAA	0.428000										HNSCC(3;0.000094)				118			25		0	0	0.000117367	0	0
IL17A	3605	broad.mit.edu	37	6	52051240	52051240	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:52051240G>A	uc003pak.1	+	0	56	c.11G>A	c.(10-12)gGg>gAg	p.G4E		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	4					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATGACTCCTGGGAAGACCTCA	0.478000														28			8		0	0	0.000157383	0	0
MMRN2	79812	broad.mit.edu	37	10	88702347	88702347	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:88702347C>T	uc001kea.3	-	5	2321	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	MMRN2_uc010qmn.2_Missense_Mutation_p.G375S|MMRN2_uc009xtb.2_Missense_Mutation_p.G689S	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	732						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TTGTGGAGGCCGTGAAGGGAG	0.662000														18			10		0	0	6.40141e-05	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121815	38121815	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:38121815C>T	uc003atr.3	+	6	3523	c.3252C>T	c.(3250-3252)ccC>ccT	p.P1084P	TRIOBP_uc003atu.3_Silent_p.P912P|TRIOBP_uc003atq.1_Silent_p.P1084P|TRIOBP_uc003ats.1_Silent_p.P912P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1084					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATTTGACCCCTTCCCCTTCC	0.632000														35			8		0	0	0.000151284	0	0
PCLO	27445	broad.mit.edu	37	7	82763956	82763956	+	Silent	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:82763956A>C	uc003uhx.2	-	2	3199	c.2910T>G	c.(2908-2910)ccT>ccG	p.P970P	PCLO_uc003uhv.2_Silent_p.P970P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	916	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGCTGTGAAGGGGCAGGGG	0.512000														34			4		0	0	0.00024832	0	0
PSG4	5672	broad.mit.edu	37	19	43420388	43420389	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:43420388_43420389GG>TT	uc002ovj.1	-	1	414_415	c.315_316CC>AA	c.(313-318)tccctg>tcAAtg	p.L106M	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.L106M	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	107	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGATCAGCAGGGATGCATTGG	0.450000														305			10		0	0	6.4e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95902774	95902775	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95902774_95902775CC>AA	uc003yhc.3	-	5	425_426	c.321_322GG>TT	c.(319-324)tgggga>tgTTga	p.107_108WG>C*	CCNE2_uc003yhd.2_Nonsense_Mutation_p.107_108WG>C*	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	107					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTTGAACATCCCCAGCTATGGA	0.356000														440			12		0	0	6.4e-05	0	0
ALS2	57679	broad.mit.edu	37	2	202590157	202590158	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:202590157_202590158GG>TT	uc002uyo.3	-	19	3624_3625	c.3268_3269CC>AA	c.(3268-3270)cca>AAa	p.P1090K	ALS2_uc002uyp.4_Missense_Mutation_p.P1090K|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1090					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity	p.P1090Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGCCTTGTTTGGGATTCTGTAT	0.371000														270			10		0	0	6.4e-05	0	0
SLFN11	91607	broad.mit.edu	37	17	33680868	33680868	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:33680868G>A	uc002hjg.4	-	3	1656	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	SLFN11_uc010ctr.3_Missense_Mutation_p.P470L|SLFN11_uc010ctp.3_Missense_Mutation_p.P470L|SLFN11_uc010ctq.3_Missense_Mutation_p.P470L|SLFN11_uc002hjh.4_Missense_Mutation_p.P470L	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	470						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTAGAGAATGGGGGTGCTGTT	0.522000														14			6		0	0	8.12818e-05	0	0
AKAP11	11215	broad.mit.edu	37	13	42877183	42877183	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:42877183T>A	uc001uys.2	+	7	4476	c.4301T>A	c.(4300-4302)tTt>tAt	p.F1434Y		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1434					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAGGTTACTTTTGTAAAAAT	0.353000														24			8		0	0	3.86212e-05	0	0
BMP15	9210	broad.mit.edu	37	X	50659363	50659363	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:50659363C>G	uc011mnw.2	+	1	984	c.935C>G	c.(934-936)cCc>cGc	p.P312R		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	312					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					ATCATTGCTCCCCCTTTCTAC	0.483000														53			13		0	0	7.07596e-05	0	0
BTC	685	broad.mit.edu	37	4	75673320	75673320	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:75673320T>G	uc003hig.2	-	4	815	c.468A>C	c.(466-468)gaA>gaC	p.E156D		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	156					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTCCATTTCTTCTTCTTTCT	0.343000														74			7		0	0	0.000274275	0	0
GPR179	440435	broad.mit.edu	37	17	36483144	36483144	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:36483144G>C	uc002hpz.3	-	10	6329	c.6308C>G	c.(6307-6309)gCa>gGa	p.A2103G		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	2103						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACTGCCTGCTGCCTCAGAACT	0.602000														107			6		0	0	3.59834e-05	0	0
HTT	3064	broad.mit.edu	37	4	3148596	3148597	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:3148596_3148597CC>AA	uc021xkv.1	+	24	3361_3362	c.3216_3217CC>AA	c.(3214-3219)accctg>acAAtg	p.L1073M		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1073					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGATTCTGACCCTGCTCTCGTC	0.490000														830			16		0	0	6.4e-05	0	0
GJC2	57165	broad.mit.edu	37	1	228346248	228346248	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:228346248A>C	uc021pkg.1	+	0	789	c.789A>C	c.(787-789)gaA>gaC	p.E263D	GJC2_uc001hsk.3_Missense_Mutation_p.E263D	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	263					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GCCCTACTGAAAAGACGGTCT	0.637000														67			16		0	0	0.000132079	0	0
TRDN	10345	broad.mit.edu	37	6	123824976	123824976	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:123824976C>T	uc003pzj.2	-	7	999	c.681G>A	c.(679-681)caG>caA	p.Q227Q	TRDN_uc003pzk.2_Silent_p.Q227Q|TRDN_uc010ken.3_Silent_p.Q227Q|TRDN_uc021zem.1_Silent_p.Q227Q	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	227					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCACTTTCTCCTGTTTTCCAC	0.363000														3			4		0	0	0.00024832	0	0
CFB	629	broad.mit.edu	37	6	31916215	31916216	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31916215_31916216GG>TT	uc003nyj.4	+	6	1240_1241	c.962_963GG>TT	c.(961-963)tgg>tTT	p.W321F	CFB_uc011dor.2_Missense_Mutation_p.W823F|CFB_uc003nyi.2_Missense_Mutation_p.W321F	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	321	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCCAAAATTTGGGTCAAAGTGT	0.475000														518			14		0	0	6.4e-05	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102883456	102883456	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:102883456A>C	uc003vbh.4	-	9	2462	c.271T>G	c.(271-273)Ttc>Gtc	p.F91V	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		TTGAAAAAGAAGCACAGTACT	0.308000														40			5		0	0	8.12818e-05	0	0
C15orf2	23742	broad.mit.edu	37	15	24923207	24923207	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:24923207G>A	uc001ywo.3	+	0	2667	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	731					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)		CTGGTTCTGGGAACACACAAC	0.537000														57			11		0	0	3.86212e-05	0	0
ITGB5	3693	broad.mit.edu	37	3	124567289	124567289	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:124567289G>A	uc003eho.3	-	3	775	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	160	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)		TTGGTGCCCAGGCTCCGGATA	0.532000														76			23		0	0	0.00047179	0	0
XAB2	56949	broad.mit.edu	37	19	7689196	7689196	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:7689196C>T	uc002mgx.3	-	6	984	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	320					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCCTCCTCCTCGCGCCCCAGC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)						51			12		0	0	0.000151284	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514250	156514251	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:156514250_156514251CC>AA	uc003lwk.2	-	6	1022_1023	c.768_769GG>TT	c.(766-771)gaggga>gaTTga	p.256_257EG>D*		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	256						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCGAATTCCCTCTGCTACTG	0.460000														460			12		0	0	6.4e-05	0	0
OR13C8	138802	broad.mit.edu	37	9	107331487	107331487	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:107331487C>T	uc011lvo.2	+	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	13					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						CAGAATTTTTCCTGGTAGGGC	0.413000														86			24		0	0	0.000586117	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032986	82032986	+	Silent	SNP	G	A	A	rs1143453		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:82032986G>A	uc002fgu.3	-	2	1040	c.912C>T	c.(910-912)ctC>ctT	p.L304L		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	304					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GGAAGTTGTAGAGTCGACCCA	0.463000														25			16		0	0	9.7654e-05	0	0
C8orf80	389643	broad.mit.edu	37	8	27922130	27922130	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:27922130G>A	uc003xgm.4	-	6	973	c.830C>T	c.(829-831)cCc>cTc	p.P277L		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	277						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GTCGGATTTGGGAAGTGTCAC	0.557000														33			16		0	0	0.000308642	0	0
MRPL18	29074	broad.mit.edu	37	6	160212136	160212136	+	Missense_Mutation	SNP	C	T	T	rs11556776		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:160212136C>T	uc003qsw.4	+	1	345	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	TCP1_uc003qss.3_5'Flank|TCP1_uc003qsr.3_5'Flank|TCP1_uc010kka.1_5'Flank|MRPL18_uc010kkb.3_Non-coding_Transcript	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	Homo sapiens mitochondrial ribosomal protein L18 (MRPL18), nuclear gene encoding mitochondrial protein, mRNA.	73					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GACGGTGTTTCCCTCCCGTGA	0.522000														27			7		0	0	0.000157383	0	0
SERTM1	400120	broad.mit.edu	37	13	37269376	37269376	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:37269376T>A	uc001uvt.4	+	1	607	c.161T>A	c.(160-162)tTt>tAt	p.F54Y	SERTM1_uc021rii.1_Missense_Mutation_p.F54Y	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	54						integral to membrane		p.F54C(1)									CTTTTAGCGTTTCTGCTTCTG	0.493000														67			17		0	0	0.000375601	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268784	30268784	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:30268784C>T	uc022buh.1	+	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P	MAGEB1_uc004dcc.3_Silent_p.P58P|MAGEB1_uc004dcd.3_Silent_p.P58P|MAGEB1_uc004dce.3_Silent_p.P58P	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	58										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGGCATTCCCCAGAAGCCTC	0.567000														4			5		0	0	0.000602214	0	0
GRIK1	2897	broad.mit.edu	37	21	30925914	30925914	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:30925914T>C	uc002yno.1	-	16	3183	c.2719A>G	c.(2719-2721)Aga>Gga	p.R907G	GRIK1_uc002ynn.3_Intron|GRIK1_uc011acs.2_Intron|GRIK1_uc011act.2_Intron	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	907					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CGAATCCCTCTCTCCTCTCGA	0.358000														71			21		0	0	0.000175454	0	0
LRRC49	54839	broad.mit.edu	37	15	71300792	71300792	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:71300792G>A	uc010ukf.2	+	11	1565	c.1259G>A	c.(1258-1260)gGg>gAg	p.G420E	LRRC49_uc002asu.3_Missense_Mutation_p.G405E|LRRC49_uc002asx.3_Missense_Mutation_p.G371E|LRRC49_uc002asw.3_Missense_Mutation_p.G415E|LRRC49_uc002asy.3_Missense_Mutation_p.G121E|LRRC49_uc002asz.3_Missense_Mutation_p.G387E	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	415						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GAAGTGGACGGGGATACACTT	0.423000														47			10		0	0	0.000442599	0	0
C9orf84	158401	broad.mit.edu	37	9	114454514	114454514	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:114454514G>A	uc004bfr.3	-	24	3686	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.S1145L|C9orf84_uc010mug.3_Missense_Mutation_p.S1095L	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1184										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGATTGTATGAAGTCACAGG	0.373000														59			9		0	0	6.40141e-05	0	0
RNF213	57674	broad.mit.edu	37	17	78337018	78337018	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:78337018T>C	uc002jyh.2	+	40	11762	c.11619T>C	c.(11617-11619)cgT>cgC	p.R3873R	RNF213_uc021uen.1_Silent_p.R3824R|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										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)			TCAGAAGCCGTCTGCAGAACT	0.547000														29			90		0	0	0.000147903	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526510	71526510	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:71526510G>A	uc009zrt.1	-	5	701	c.539C>T	c.(538-540)cCa>cTa	p.P180L	TSPAN8_uc001swk.1_Missense_Mutation_p.P180L|TSPAN8_uc001swj.1_Missense_Mutation_p.P180L	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	180					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCTTTGGCATGGTCTCTGCTT	0.353000														177			145		0	0	0.000147903	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307431	39307431	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:39307431G>A	uc021wwc.1	-	1	706	c.666C>T	c.(664-666)ctC>ctT	p.L222L	CX3CR1_uc021wwa.1_Silent_p.L190L|CX3CR1_uc021wwb.1_Silent_p.L190L|CX3CR1_uc003cjl.3_Silent_p.L190L|CX3CR1_uc021wwd.1_Silent_p.L190L	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	190					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCACATTGCGGAGCACGGGCC	0.483000														133			10		0	0	0.00010058	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925404	6925405	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:6925404_6925405CC>TT	uc011bwg.2	+	1	367_368	c.288_289CC>TT	c.(286-291)atcccc>atTTcc	p.P97S	TBC1D14_uc003gjs.4_Missense_Mutation_p.P97S	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	97						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCGACCTCATCCCCGAGCGGGC	0.668000														88			11		0	0	6.4e-05	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243560	47243560	+	Missense_Mutation	SNP	G	A	A	rs147132109		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:47243560G>A	uc002ion.2	+	8	1278	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	B4GALNT2_uc010wlt.1_Missense_Mutation_p.E321K|B4GALNT2_uc010wlu.1_Missense_Mutation_p.E347K	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	407					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCTCTTCAACGAGGAGACCAA	0.493000														56			19		0	0	0.000175454	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324903	103324903	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:103324903G>A	uc002tca.3	+	11	2536	c.2394G>A	c.(2392-2394)tcG>tcA	p.S798S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	798						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						GGAGGGCATCGGAACCTGGAA	0.567000														56			12		0	0	0.000219431	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063416	76063417	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:76063416_76063417AG>TA	uc001oxh.1	-	4	777_778	c.777_778CT>TA	c.(775-780)ttcttt>ttTAtt	p.F260I	PRKRIR_uc021qnn.1_Missense_Mutation_p.F85I|PRKRIR_uc010rrz.1_Missense_Mutation_p.F85I	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	260					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATAATGGAAAAGAAGTGTGAGT	0.436000														64			15		0	0	6.4e-05	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013193	73013193	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:73013193C>T	uc003hgg.2	+	3	1331	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	NPFFR2_uc010iig.2_Silent_p.I193I|NPFFR2_uc003hgi.2_Silent_p.I312I|NPFFR2_uc003hgh.2_Silent_p.I309I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	411					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AACTGCAGATCATCAACATCT	0.473000														52			24		0	0	0.00047179	0	0
DLG4	1742	broad.mit.edu	37	17	7107072	7107072	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:7107072G>A	uc010vtn.2	-	3	354	c.94C>T	c.(94-96)Cca>Tca	p.P32S	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.P89S|DLG4_uc002get.4_Missense_Mutation_p.P135S|DLG4_uc010vto.2_Missense_Mutation_p.P132S|DLG4_uc002geu.3_Missense_Mutation_p.P89S	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	92					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AAAATGGATGGGTCGTCACCG	0.607000														25			11		0	0	0.000219431	0	0
NLRP12	91662	broad.mit.edu	37	19	54312893	54312893	+	Missense_Mutation	SNP	C	T	T	rs139937024		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:54312893C>T	uc002qcj.4	-	2	2240	c.2020G>A	c.(2020-2022)Ggg>Agg	p.G674R	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G674R|NLRP12_uc002qci.4_Missense_Mutation_p.G674R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G674R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	674					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	p.G674W(2)		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)		CGGTCTTCCCCGTCCGCGCTG	0.617000														24			6		0	0	8.12818e-05	0	0
DGKI	9162	broad.mit.edu	37	7	137257540	137257540	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:137257540G>A	uc003vtt.3	-	17	1807	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	DGKI_uc003vtu.3_Silent_p.F302F	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	602					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTATACACTGGAACTTCAGTT	0.373000														72			74		0	0	0.000147903	0	0
COL20A1	57642	broad.mit.edu	37	20	61938855	61938855	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:61938855C>T	uc011aau.2	+	5	610	c.510C>T	c.(508-510)ttC>ttT	p.F170F	COL20A1_uc011aav.2_5'UTR	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	170					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCCCAGTTCCGCTGCCTGC	0.682000														15			7		0	0	0.000157383	0	0
ASTN1	460	broad.mit.edu	37	1	176838053	176838053	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:176838053G>A	uc001glc.3	-	21	3786	c.3574C>T	c.(3574-3576)Ctc>Ttc	p.L1192F	ASTN1_uc001glb.1_Missense_Mutation_p.L1192F|ASTN1_uc001gld.1_Missense_Mutation_p.L1192F	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1200					cell migration|neuron cell-cell adhesion	integral to membrane		p.L1192P(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TAGTGGTAGAGGACCCGGTGT	0.493000														45			5		0	0	3.59834e-05	0	0
PDE6A	5145	broad.mit.edu	37	5	149310691	149310691	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:149310691G>A	uc003lrg.4	-	3	878	c.758C>T	c.(757-759)aCg>aTg	p.T253M	PDE6A_uc021yfs.1_Missense_Mutation_p.T172M	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	253					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCGATGTCCGTAAGTTCTTC	0.443000														52			14		0	0	0.000422831	0	0
JPH1	56704	broad.mit.edu	37	8	75227821	75227821	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:75227821C>T	uc003yae.3	-	1	454	c.414G>A	c.(412-414)cgG>cgA	p.R138R	JPH1_uc003yaf.3_Silent_p.R138R|JPH1_uc003yag.1_Silent_p.R2R	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	138	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGTAGCCATGCCGCATGCCTC	0.677000														33			13		0	0	0.000566183	0	0
CCDC158	339965	broad.mit.edu	37	4	77253640	77253640	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:77253640C>T	uc003hkb.4	-	18	2968	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	939										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTACCCTATCCTCTCTGTAT	0.308000														38			27		0	0	0.000409698	0	0
DOCK3	1795	broad.mit.edu	37	3	51312577	51312577	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:51312577G>A	uc011bds.2	+	24	2639	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	872						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCAGAAAGAGCTGCTAATTT	0.517000														129			66		0	0	0.000147903	0	0
SLC25A17	10478	broad.mit.edu	37	22	41166969	41166970	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:41166969_41166970CC>AA	uc003azc.3	-	8	932_933	c.792_793GG>TT	c.(790-795)atggga>atTTga	p.264_265MG>I*	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Nonsense_Mutation_p.227_228MG>I*|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Nonsense_Mutation_p.191_192MG>I*	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	264					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTGTAGAGTCCCATTATTCCAA	0.436000														353			11		0	0	6.4e-05	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217799	150217799	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:150217799A>C	uc003whk.3	+	1	867	c.737A>C	c.(736-738)aAg>aCg	p.K246T	GIMAP7_uc022apu.1_Missense_Mutation_p.K246T	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	246							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGAAGAAAAGGAGAAAGaa	0.269000														35			9		0	0	0.000274275	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347776	140347776	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:140347776C>T	uc003lii.3	+	0	2030	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	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_Silent_p.S475S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	475	Cadherin 5.				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)			ACTCCTATTCCATCTACATAC	0.498000														147			40		0	0	0.000147903	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315246	30315246	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:30315246C>T	uc009xle.2	-	2	3968	c.3831G>A	c.(3829-3831)agG>agA	p.R1277R	KIAA1462_uc001iux.3_Silent_p.R1277R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.R1139R	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1277										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						AGTCGGCATTCCTGAAGCTCA	0.622000														23			12		0	0	0.00010058	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682966	53682967	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:53682966_53682967GG>TT	uc002ehp.3	-	15	2277_2278	c.2213_2214CC>AA	c.(2212-2214)ccc>cAA	p.P738Q	RPGRIP1L_uc002eho.4_Missense_Mutation_p.P738Q|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P738Q|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.P738Q|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P738Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	738					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTTGATCCATGGGAACTCTTAA	0.401000														484			13		0	0	6.4e-05	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613923	27613923	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:27613923C>T	uc002hdy.4	-	1	1178	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	363						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGAGGTTTTCCTTAACTTTGC	0.403000														47			73		0	0	0.000147903	0	0
ASMT	438	broad.mit.edu	37	X	1746618	1746618	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:1746618G>A	uc004cqd.3	+	4	613	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ASMT_uc010ncy.3_Missense_Mutation_p.E133K|ASMT_uc004cqe.3_Missense_Mutation_p.E133K	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	133					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGTACCTGGAGACGTTTGG	0.368000														168			55		0	0	0.000147903	0	0
ADAM29	11086	broad.mit.edu	37	4	175898916	175898916	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:175898916C>T	uc003iuc.3	+	4	2910	c.2240C>T	c.(2239-2241)cCt>cTt	p.P747L	ADAM29_uc003iud.3_Missense_Mutation_p.P747L|ADAM29_uc010irr.3_Missense_Mutation_p.P747L|ADAM29_uc011cki.2_Missense_Mutation_p.P747L|ADAM29_uc021xuo.1_Missense_Mutation_p.P747L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	747	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.T746M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTGTGACGCCTTCCCAGAGT	0.537000														34			9		0	0	0.000442599	0	0
SPRY3	10251	broad.mit.edu	37	X	155003856	155003856	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:155003856C>T	uc022cio.1	+	0	323	c.323C>T	c.(322-324)tCa>tTa	p.S108L	SPRY3_uc004fnq.1_Missense_Mutation_p.S108L	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	108					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCCTCACCTTCAGGCCAATCC	0.552000														43			19		0	0	0.000175454	0	0
DZIP3	9666	broad.mit.edu	37	3	108351803	108351803	+	Missense_Mutation	SNP	C	T	T	rs147130794		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:108351803C>T	uc003dxd.3	+	8	1122	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F	DZIP3_uc003dxf.1_Missense_Mutation_p.L234F|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.L234F|DZIP3_uc003dxg.1_5'Flank	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	234					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AATCTAGGATCTTCTTAATAA	0.294000														113			28		0	0	0.000147802	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307161	39307161	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:39307161C>T	uc021wwc.1	-	1	976	c.936G>A	c.(934-936)acG>acA	p.T312T	CX3CR1_uc021wwa.1_Silent_p.T280T|CX3CR1_uc021wwb.1_Silent_p.T280T|CX3CR1_uc003cjl.3_Silent_p.T280T|CX3CR1_uc021wwd.1_Silent_p.T280T	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	280					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TAAATGCAACCGTCTCAGTCA	0.473000														78			41		0	0	0.000147903	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171109	70171109	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:70171109G>T	uc001opo.3	+	3	738	c.523G>T	c.(523-525)Gat>Tat	p.D175Y	PPFIA1_uc001opn.2_Missense_Mutation_p.D175Y|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	175					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CAAAGCTCTGGATGAAAAGGT	0.473000														82			21		6.12954e-19	1.05555e-17	9.22233e-05	1	0
PAF1	54623	broad.mit.edu	37	19	39879984	39879984	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:39879984C>G	uc002old.3	-	5	574	c.399G>C	c.(397-399)aaG>aaC	p.K133N	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.K123N|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	133					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGTACTCTGTCTTTCGCATCC	0.532000														87			6		0	0	0.000274275	0	0
DNAH2	146754	broad.mit.edu	37	17	7690336	7690336	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:7690336C>T	uc002giu.1	+	40	6602	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2196	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCGAGCGCATCGCGATGCCCG	0.637000														19			7		0	0	8.12818e-05	0	0
ISX	91464	broad.mit.edu	37	22	35478548	35478548	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:35478548C>T	uc003anj.3	+	1	1218	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	89						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T88T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GTACCACCTTCACCACTGAGC	0.562000														51			18		0	0	0.000132079	0	0
MUC16	94025	broad.mit.edu	37	19	9046505	9046505	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:9046505G>A	uc002mkp.3	-	4	35330	c.35126C>T	c.(35125-35127)tCc>tTc	p.S11709F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11711	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						ACTACTATGGGAAAAACTGGA	0.512000														93			14		0	0	9.7654e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92257943	92257944	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:92257943_92257944CC>AA	uc001pdj.4	+	1	3453_3454	c.3436_3437CC>AA	c.(3436-3438)ccg>AAg	p.P1146K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1146	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAATGCCCCGCTGACCTCA	0.465000										TCGA Ovarian(4;0.039)				242			10		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9050038	9050038	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:9050038G>A	uc002mkp.3	-	4	31797	c.31593C>T	c.(31591-31593)ttC>ttT	p.F10531F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10533	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						GAACATCAGGGAAAACATATG	0.478000														206			31		0	0	0.00058488	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661864	54661864	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:54661864G>A	uc003dhf.3	+	9	1062	c.1014G>A	c.(1012-1014)ttG>ttA	p.L338L	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.L244L|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.L72L	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	338	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGGAATGTTGGATATAGCTC	0.408000														23			4		0	0	3.59834e-05	0	0
PSG8	440533	broad.mit.edu	37	19	43269712	43269712	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:43269712G>A	uc002ouo.2	-	0	120	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.P8S|PSG8_uc010ein.3_Missense_Mutation_p.P8S|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	8						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTGTGCAGGGAGGGGCTGAG	0.597000														68			5		0	0	0.000274275	0	0
UNC79	57578	broad.mit.edu	37	14	94160683	94160683	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:94160683G>A	uc001ybv.1	+	45	7208	c.7125G>A	c.(7123-7125)atG>atA	p.M2375I	UNC79_uc001ybs.1_Missense_Mutation_p.M2353I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2530						integral to membrane		p.M2353I(1)|p.M2552I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTTTCAGATGGTAGAAATGG	0.388000														21			9		0	0	0.000442599	0	0
BECN1	8678	broad.mit.edu	37	17	40971575	40971575	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:40971575G>A	uc002ibo.3	-	3	386	c.251C>T	c.(250-252)cCc>cTc	p.P84L	BECN1_uc010whb.1_5'UTR|BECN1_uc010whc.1_Missense_Mutation_p.P84L|BECN1_uc002ibn.2_Missense_Mutation_p.P84L	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	84					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCTGGCTGGGGGGATGAATCT	0.488000											OREG0024429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			7		0	0	0.000274275	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808538	18808538	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:18808538C>T	uc001bax.3	+	0	1115	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	KLHDC7A_uc009vpg.3_Missense_Mutation_p.P137S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	355						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCCGTGGCCCTCCACCCG	0.687000														20			6		0	0	0.000157383	0	0
TTLL6	284076	broad.mit.edu	37	17	46865189	46865189	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:46865189G>A	uc021tzm.1	-	10	1608	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	TTLL6_uc002iob.3_Missense_Mutation_p.R218W|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Missense_Mutation_p.R278W|TTLL6_uc002iod.3_Missense_Mutation_p.R372W	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	477						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TACTCCTCCCGAGCCCTGGAA	0.532000														46			27		0	0	0.000339439	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175784	71175784	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:71175784T>C	uc003tvy.3	+	9	1539	c.1539T>C	c.(1537-1539)ggT>ggC	p.G513G	WBSCR17_uc003tvz.3_Silent_p.G212G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	513	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G513G(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCACTTGGGTGCCCTGGGGA	0.622000														63			20		0	0	0.000586117	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559046	1559046	+	Missense_Mutation	SNP	C	T	T	rs145977289	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:1559046C>T	uc010gai.3	-	1	470	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	SIRPB1_uc002wfk.4_Missense_Mutation_p.R124Q	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCCCTTTCCGGAACTTCAC	0.542000														69			37		0	0	0.000270559	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925079	54925079	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:54925079G>A	uc001sgc.4	+	22	2621	c.2542G>A	c.(2542-2544)Ggc>Agc	p.G848S	NCKAP1L_uc010sox.2_Missense_Mutation_p.G390S|NCKAP1L_uc010soy.2_Missense_Mutation_p.G798S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	848					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGGCCCCTATGGCATGAAGTT	0.512000														145			26		0	0	0.000491102	0	0
NLRP5	126206	broad.mit.edu	37	19	56515448	56515448	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:56515448G>A	uc002qmj.3	+	1	429	c.429G>A	c.(427-429)cgG>cgA	p.R143R	NLRP5_uc002qmi.3_Silent_p.R143R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	143	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)		AGAAGGCACGGGATGACATGA	0.502000														68			17		0	0	0.000295444	0	0
G6PC	2538	broad.mit.edu	37	17	41053008	41053008	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:41053008C>T	uc002icb.1	+	0	194	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Missense_Mutation_p.L41F	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	39					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATCGCAGACCTCAGGAATGC	0.498000														50			58		0	0	0.000147903	0	0
DUOXA1	90527	broad.mit.edu	37	15	45415159	45415159	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:45415159G>A	uc001zup.3	-	3	454	c.54C>T	c.(52-54)ttC>ttT	p.F18F	DUOXA1_uc010uem.2_Silent_p.F18F|DUOXA1_uc010bec.3_Silent_p.F18F|DUOXA1_uc001zuq.1_Silent_p.F18F|DUOXA1_uc001zur.1_Silent_p.F18F|DUOXA1_uc010bed.1_Silent_p.F18F	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	18					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TGTCCATCGGGAAGGTTGGCT	0.537000														42			5		0	0	3.59834e-05	0	0
TGFBI	7045	broad.mit.edu	37	5	135382100	135382100	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:135382100G>A	uc003lbf.4	+	3	536	c.375G>A	c.(373-375)acG>acA	p.T125T	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	125	FAS1 1.		Missing (associated with Leu-124 in atypical granular dystrophy; French granular variant).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGACCGCACGGAGAAGCTGA	0.607000														23			12		0	0	0.00010058	0	0
TEX101	83639	broad.mit.edu	37	19	43922076	43922077	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:43922076_43922077GG>TT	uc002owk.3	+	7	1053_1054	c.492_493GG>TT	c.(490-495)ttgggg>ttTTgg	p.164_165LG>FW	TEX101_uc010xwo.2_Missense_Mutation_p.146_147LG>FW	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	146						anchored to membrane|plasma membrane		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GTGTGGCTTTGGGGACCTGTTT	0.490000														185			8		0	0	6.4e-05	0	0
KIAA1549	57670	broad.mit.edu	37	7	138596002	138596002	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:138596002G>A	uc011kql.2	-	3	3084	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	KIAA1549_uc011kqj.2_Missense_Mutation_p.S1012F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1012						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTTATGACGGATATTGCCGT	0.398000			O	BRAF	pilocytic astrocytoma									15			21		0	0	0.000375601	0	0
TTC35	9694	broad.mit.edu	37	8	109489041	109489041	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:109489041C>T	uc003ymw.1	+	8	657	c.622C>T	c.(622-624)Ctc>Ttc	p.L208F		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	208						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			ACTTGAAAACCTCGAACTTTC	0.338000														25			7		0	0	8.12818e-05	0	0
BAAT	570	broad.mit.edu	37	9	104124732	104124732	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:104124732G>A	uc010mtd.3	-	3	1344	c.1235C>T	c.(1234-1236)cCa>cTa	p.P412L	BAAT_uc004bbd.4_Missense_Mutation_p.P412L	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	412					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGTCACATCTGGAATGAGGTG	0.458000														36			11		0	0	0.000151284	0	0
UBA6	55236	broad.mit.edu	37	4	68566789	68566789	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:68566789A>T	uc003hdg.4	-	0	101	c.49T>A	c.(49-51)Tgt>Agt	p.C17S	UBA6_uc003hdi.3_Missense_Mutation_p.C17S|UBA6_uc003hdj.2_Missense_Mutation_p.C17S|LOC550112_uc003hdl.4_5'Flank|LOC550112_uc003hdk.3_5'Flank	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	17					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CAGGAAGAACAGGACGCCTCT	0.662000											OREG0016213	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			5		0	0	0.000157383	0	0
PRDM16	63976	broad.mit.edu	37	1	3334463	3334463	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:3334463C>T	uc001akf.3	+	10	2845	c.2763C>T	c.(2761-2763)tcC>tcT	p.S921S	PRDM16_uc001ake.3_Silent_p.S921S|PRDM16_uc009vlh.3_Silent_p.S621S|PRDM16_uc001akc.3_Silent_p.S920S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	921	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGGCAGCTCCCTGCAGCCCC	0.602000			T	EVI1	"""MDS, AML"""									58			14		0	0	0.000308642	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870393	51870393	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:51870393C>T	uc002xwo.3	+	1	1283	c.396C>T	c.(394-396)atC>atT	p.I132I	TSHZ2_uc021wex.1_Silent_p.I129I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	132					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N131K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACGCCAACATCCTGTCGGATT	0.522000														62			7		0	0	0.000157383	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367756	3367756	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:3367756C>T	uc002cut.4	+	5	1304	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GAACTCCCACCTTATTAAACA	0.423000														39			5		0	0	8.12818e-05	0	0
PAPPA2	60676	broad.mit.edu	37	1	176664979	176664979	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:176664979C>T	uc001gkz.3	+	6	3894	c.2730C>T	c.(2728-2730)acC>acT	p.T910T	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	910					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTATTGGACCCCAGAGGAGG	0.532000														17			11		0	0	0.000151284	0	0
SI	6476	broad.mit.edu	37	3	164709985	164709985	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:164709985G>A	uc003fei.3	-	42	5026	c.4963C>T	c.(4963-4965)Cgg>Tgg	p.R1655W		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1655	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCAAACCACCGAGCATTGGGG	0.343000										HNSCC(35;0.089)				64			8		0	0	0.00010058	0	0
DEFB119	245932	broad.mit.edu	37	20	29965226	29965226	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:29965226A>G	uc002wvs.3	-	2	238	c.118T>C	c.(118-120)Tcg>Ccg	p.S40P	DEFB119_uc002wvt.3_Silent_p.L26L	NM_173460	NP_775689	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 2, mRNA.	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCATGCATCGAAGGATGTGGC	0.428000														76			14		0	0	0.000422831	0	0
CCNE2	9134	broad.mit.edu	37	8	95894507	95894508	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95894507_95894508CC>AA	uc003yhc.3	-	10	1057_1058	c.953_954GG>TT	c.(952-954)tgg>tTT	p.W318F	CCNE2_uc003yhd.2_Missense_Mutation_p.W318F	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	318					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					AAATACTGTCCCACTCCAAACC	0.351000														596			12		0	0	6.4e-05	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777930	31777931	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31777930_31777931GG>TT	uc003nxh.3	-	1	2002_2003	c.1819_1820CC>AA	c.(1819-1821)cct>AAt	p.P607N	HSPA1L_uc010jte.3_Missense_Mutation_p.P607N|HSPA1L_uc021yuz.1_Missense_Mutation_p.P607N	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	607					response to unfolded protein		ATP binding	p.P607L(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGATGATAGGGTTACACATC	0.495000														782			19		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	204066299	204066300	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:204066299_204066300CG>AT	uc002uzt.3	+	48	7518_7519	c.7185_7186CG>AT	c.(7183-7188)cccggg>ccATgg	p.G2396W	NBEAL1_uc021vvj.1_Missense_Mutation_p.G1030W	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2396							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTTTGCTCCCGGGCTAGAGAT	0.376000														386			13		0	0	6.4e-05	0	0
GNMT	27232	broad.mit.edu	37	6	42931084	42931084	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:42931084G>A	uc003otd.3	+	4	619	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	BC040637_uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	Homo sapiens glycine N-methyltransferase (GNMT), mRNA.	205					S-adenosylmethionine metabolic process|protein homotetramerization|protein modification process		folic acid binding|glycine N-methyltransferase activity|glycine binding			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	GACCAAGGACGTCACAACATC	0.617000														9			7		0	0	8.12818e-05	0	0
SCN11A	11280	broad.mit.edu	37	3	38888407	38888407	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:38888407C>T	uc021wvy.1	-	25	5353	c.5154G>A	c.(5152-5154)aaG>aaA	p.K1718K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1718					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1718N(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATACAACTTCTTGAGAGGAT	0.448000														79			7		0	0	0.000274275	0	0
NBEAL1	65065	broad.mit.edu	37	2	204078260	204078261	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:204078260_204078261CC>AA	uc002uzt.3	+	53	8200_8201	c.7867_7868CC>AA	c.(7867-7869)cca>AAa	p.P2623K	NBEAL1_uc021vvj.1_Missense_Mutation_p.P1257K|NBEAL1_uc002uzu.3_Missense_Mutation_p.P118K	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2623							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCATCAACCCATTAGCCATG	0.332000														518			11		0	0	6.4e-05	0	0
DACH1	1602	broad.mit.edu	37	13	72131253	72131253	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:72131253C>T	uc021rkj.1	-	5	1902	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	543					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATAAGCCCATCAGCATCTGGT	0.428000														25			7		0	0	0.000157383	0	0
RBM11	54033	broad.mit.edu	37	21	15599508	15599508	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:15599508G>A	uc002yjo.4	+	4	782	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	RBM11_uc002yjn.4_Missense_Mutation_p.R133Q|RBM11_uc002yjp.4_Missense_Mutation_p.R133Q	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	247							RNA binding|nucleotide binding	p.R247Q(2)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATGAATAAACGAAAGAGACAA	0.408000														97			52		0	0	0.000147903	0	0
NLRP5	126206	broad.mit.edu	37	19	56565166	56565166	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:56565166G>A	uc002qmj.3	+	12	3291	c.3291G>A	c.(3289-3291)gcG>gcA	p.A1097A	NLRP5_uc002qmi.3_Silent_p.A1078A	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1097			A -> T (in dbSNP:rs3103057).			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)		GTGTTCTGGCGAGACTCGGGT	0.607000														53			13		0	0	7.07596e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13864563	13864563	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:13864563G>A	uc003jfd.2	-	27	4581	c.4539C>T	c.(4537-4539)agC>agT	p.S1513S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1513	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)					TTAACTTAAAGCTTTCATTCC	0.468000									Kartagener syndrome					29			23		0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9068327	9068327	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:9068327G>A	uc002mkp.3	-	2	19323	c.19119C>T	c.(19117-19119)acC>acT	p.T6373T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6375	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						TTTTCTGGGAGGTGCTAGTCT	0.453000														25			9		0	0	3.86212e-05	0	0
ASTN2	23245	broad.mit.edu	37	9	119567924	119567924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:119567924G>A	uc004bjt.2	-	11	2331	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	ASTN2_uc022bml.1_Nonsense_Mutation_p.Q440*|ASTN2_uc022bmm.1_Nonsense_Mutation_p.Q444*	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	795	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAGGTCATCTGGAAGACTTGG	0.488000														53			17		0	0	9.7654e-05	0	0
DSP	1832	broad.mit.edu	37	6	7583465	7583465	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:7583465C>T	uc003mxp.1	+	23	6249	c.5970C>T	c.(5968-5970)acC>acT	p.T1990T	DSP_uc003mxq.1_Silent_p.T1391T|DSP_uc021yle.1_Silent_p.T1547T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1990	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAAAACAACCTTGGACAAAC	0.498000														51			12		0	0	0.00010058	0	0
USH2A	7399	broad.mit.edu	37	1	215853584	215853584	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:215853584A>C	uc001hku.1	-	61	12588	c.12201T>G	c.(12199-12201)agT>agG	p.S4067R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4067	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTCAGTCCACTTGGGGAAG	0.423000										HNSCC(13;0.011)				74			8		0	0	0.000274275	0	0
MKRN3	7681	broad.mit.edu	37	15	23811356	23811356	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:23811356C>T	uc001ywh.4	+	0	903	c.427C>T	c.(427-429)Cct>Tct	p.P143S	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P143S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	143						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGTGGAGGCCCTAGCACGGC	0.652000														29			12		0	0	0.000151284	0	0
PSMA5	5686	broad.mit.edu	37	1	109952579	109952580	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109952579_109952580CC>AA	uc001dxn.3	-	7	736_737	c.618_619GG>TT	c.(616-621)atggag>atTTag	p.206_207ME>I*	PSMA5_uc010ovj.2_Nonsense_Mutation_p.148_149ME>I*|PSMA5_uc021ord.1_Nonsense_Mutation_p.148_149ME>I*|PSMA5_uc021ore.1_Nonsense_Mutation_p.148_149ME>I*	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	206					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AGCTTCTCCTCCATTACTTGTT	0.351000														794			21		0	0	6.4e-05	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107233	120107233	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:120107233C>T	uc003icp.4	+	5	886	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	225							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTTTGTCAATCCCCTTTCTGG	0.383000														58			18		0	0	9.7654e-05	0	0
OR4K2	390431	broad.mit.edu	37	14	20344937	20344937	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:20344937C>T	uc001vwh.1	+	0	511	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCTGTGGTCCCTATGAGGT	0.478000														196			76		0	0	0.000147903	0	0
LIPH	200879	broad.mit.edu	37	3	185252782	185252783	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:185252782_185252783CC>AA	uc003fpm.3	-	1	297_298	c.187_188GG>TT	c.(187-189)ggg>TTg	p.G63L	LIPH_uc010hyh.3_Missense_Mutation_p.G63L	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	63					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATTCAAGTTCCCAAAAGCTGAG	0.480000														662			18		0	0	6.4e-05	0	0
HGSNAT	138050	broad.mit.edu	37	8	43037402	43037403	+	Splice_Site	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:43037402_43037403CG>AT	uc003xpx.4	+	11	1176	c.1128_splice	c.e11+1	p.S376_splice		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	404					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CATTGTGCCTCGGTGAGAAACC	0.426000														451			14		0	0	6.4e-05	0	0
APOL3	80833	broad.mit.edu	37	22	36537413	36537413	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:36537413G>A	uc003aot.3	-	2	1082	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	APOL3_uc003aoq.3_Silent_p.F277F|APOL3_uc003aor.3_Silent_p.F277F|APOL3_uc003aos.3_Silent_p.F277F|APOL3_uc003aou.3_Silent_p.F148F|APOL3_uc003aov.3_Silent_p.F148F|APOL3_uc021wol.1_Silent_p.F148F	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	348					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CCAGTGCAAGGAAGATGCCTG	0.582000														80			17		0	0	0.000132079	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128977597	128977597	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:128977597G>A	uc003kvb.1	+	10	1798	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	600	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGTGAGAAAGAATGCAGAAC	0.388000														38			9		0	0	3.86212e-05	0	0
SCN1A	6323	broad.mit.edu	37	2	166848514	166848514	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:166848514C>T	uc002udo.4	-	27	5498	c.5271G>A	c.(5269-5271)ggG>ggA	p.G1757G	SCN1A_uc010fpk.3_Silent_p.G1729G|SCN1A_uc021vsb.1_Silent_p.G1746G	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1757						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGATGGGTTCCCACAGTCTC	0.468000														16			22		0	0	0.00047179	0	0
TAGAP	117289	broad.mit.edu	37	6	159458043	159458044	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:159458043_159458044TG>CT	uc003qrz.3	-	9	1343_1344	c.1011_1012CA>AG	c.(1009-1014)gccaca>gcAGca	p.T338A	TAGAP_uc011eft.2_Missense_Mutation_p.T275A|TAGAP_uc003qsa.3_Missense_Mutation_p.T160A	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	338					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCAGCAGCTGTGGCCATGGGCA	0.624000														62			10		0	0	6.4e-05	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185936	127185936	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:127185936C>T	uc004eum.3	-	0	447	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	84						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TTCTCCATGTCATCCCATCCT	0.493000														23			33		0	0	0.000191422	0	0
GPSM2	29899	broad.mit.edu	37	1	109461324	109461326	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109461324_109461326GG>TT	uc010ovc.2	+	11	1849_1851	c.1353_1355GG>TT	c.(1351-1356)aagggg>aaTTg	p.451_452KG>N	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.451_452KG>N|GPSM2_uc010ove.1_Missense_Mutation_p.451_452KG>N	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	451					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ACAGACTGAAGGGGAAAAAATAC	0.374000														495			14		0	0	6.4e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82763754	82763754	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:82763754C>T	uc003uhx.2	-	2	3401	c.3112G>A	c.(3112-3114)Gct>Act	p.A1038T	PCLO_uc003uhv.2_Missense_Mutation_p.A1038T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	984					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAGGCTCAGCTGTTAAAGAT	0.413000														30			18		0	0	7.07596e-05	0	0
TPTE	7179	broad.mit.edu	37	21	10908889	10908889	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:10908889G>A	uc002yip.1	-	22	1824	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P468S|TPTE_uc002yir.1_Missense_Mutation_p.P448S|TPTE_uc010gkv.1_Missense_Mutation_p.P348S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	486	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGTATGTAGGAAGATTCTAA	0.264000														48			6		0	0	0.000274275	0	0
MPP3	4356	broad.mit.edu	37	17	41891659	41891659	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:41891659G>A	uc002ieh.3	-	12	1416	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	MPP3_uc002iei.4_Silent_p.S360S|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	360	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAGCTCCGGAGGACATCTTTC	0.637000														56			29		0	0	0.000339439	0	0
ASNS	440	broad.mit.edu	37	7	97487649	97487649	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:97487649G>A	uc003uot.4	-	6	1350	c.844C>T	c.(844-846)Cct>Tct	p.P282S	ASNS_uc011kin.2_Missense_Mutation_p.P199S|ASNS_uc011kio.2_Missense_Mutation_p.P261S|ASNS_uc003uou.4_Missense_Mutation_p.P282S|ASNS_uc003uov.4_Missense_Mutation_p.P282S|ASNS_uc003uox.4_Missense_Mutation_p.P199S	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	282	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTCTGGAGAGGATACTGTACT	0.493000														40			10		0	0	3.86212e-05	0	0
PRPF8	10594	broad.mit.edu	37	17	1579541	1579541	+	Silent	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:1579541A>G	uc002fte.3	-	16	2626	c.2512T>C	c.(2512-2514)Ttg>Ctg	p.L838L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	838						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AAGATGAGCAACTTGGTGTCA	0.522000														63			23		0	0	0.000375601	0	0
BPIFB6	128859	broad.mit.edu	37	20	31620830	31620830	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:31620830G>A	uc010zuc.2	+	1	138	c.138G>A	c.(136-138)aaG>aaA	p.K46K	BPIFB6_uc010zud.2_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	46						extracellular region	lipid binding										TCCTGGAGAAGATGGCAGCCG	0.557000														57			15		0	0	0.000422831	0	0
MYH2	4620	broad.mit.edu	37	17	10428104	10428104	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:10428104C>T	uc010coi.3	-	33	5069	c.4941G>A	c.(4939-4941)agG>agA	p.R1647R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1647R|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.	1647					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						TCCTGTAGTTCCTCAGGGCCT	0.502000														69			17		0	0	0.000132079	0	0
STC2	8614	broad.mit.edu	37	5	172752981	172752981	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:172752981C>T	uc003mco.1	-	1	1494	c.184G>A	c.(184-186)Gat>Aat	p.D62N	STC2_uc003mcn.1_5'UTR	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	62					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACCCCACATCGCCAGCGTTG	0.448000														151			69		0	0	0.000147903	0	0
BNC2	54796	broad.mit.edu	37	9	16419500	16419500	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:16419500G>A	uc003zml.3	-	6	2927	c.2787C>T	c.(2785-2787)ctC>ctT	p.L929L	BNC2_uc011lmw.2_Silent_p.L834L|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.L716L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	929					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCCTGACATCGAGCCCCATGG	0.577000														77			21		0	0	0.000229342	0	0
ABCA3	21	broad.mit.edu	37	16	2347406	2347406	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:2347406C>T	uc002cpy.1	-	16	2899	c.2187G>A	c.(2185-2187)ctG>ctA	p.L729L	ABCA3_uc010bsk.1_Silent_p.L671L|ABCA3_uc010bsl.1_Silent_p.L729L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	729	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGCGGTCTCCCAGCAGGTCAG	0.627000														25			32		0	0	0.00058488	0	0
IL7R	3575	broad.mit.edu	37	5	35875642	35875642	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:35875642C>T	uc003jjs.3	+	6	918	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	IL7R_uc011coo.2_Silent_p.S245S|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	277					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCCCAGTCTCCCCGATCATAA	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							22			25		0	0	0.000227799	0	0
CD1E	913	broad.mit.edu	37	1	158324454	158324454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:158324454C>T	uc001fse.3	+	1	639	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	CD1E_uc010pid.2_Nonsense_Mutation_p.Q114*|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Nonsense_Mutation_p.Q116*|CD1E_uc001fsf.3_Nonsense_Mutation_p.Q116*|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Nonsense_Mutation_p.Q116*|CD1E_uc001fsk.3_Nonsense_Mutation_p.Q116*|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Nonsense_Mutation_p.Q116*|CD1E_uc001frz.3_Nonsense_Mutation_p.Q116*|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	116					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGTCAATTTCAGCTTGAATG	0.388000														26			11		0	0	0.00010058	0	0
PROM1	8842	broad.mit.edu	37	4	16026888	16026889	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:16026888_16026889CG>AT	uc003goo.2	-	4	768_769	c.556_557CG>AT	c.(556-558)cgg>ATg	p.R186M	PROM1_uc003gor.2_Missense_Mutation_p.R186M|PROM1_uc003gos.2_Missense_Mutation_p.R177M|PROM1_uc003got.2_Missense_Mutation_p.R186M|PROM1_uc003gou.2_Missense_Mutation_p.R177M|PROM1_uc003gop.2_Missense_Mutation_p.R177M|PROM1_uc003goq.3_Missense_Mutation_p.R177M|PROM1_uc010iec.1_Missense_Mutation_p.R64M	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	186					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CCTTTTGATCCGGGTTCTTACC	0.446000														130			6		0	0	6.4e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	71025223	71025223	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:71025223C>T	uc002ezr.3	-	24	4013	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1288										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCGTACATCTGAGATCACA	0.473000														24			5		0	0	3.59834e-05	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	134828	134828	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrGL000209.1:134828G>A	uc002quo.2	+	2	152	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	KIR2DL2_uc021vdc.1_Missense_Mutation_p.V45I|KIR2DL2_uc021vdd.1_Missense_Mutation_p.V45I|KIR2DL2_uc010evk.1_Intron|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Missense_Mutation_p.V45I	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	45	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGAAGAGACAGTCATCCTGCA	0.498000														8			10		0	0	0.000422831	0	0
GRAMD3	65983	broad.mit.edu	37	5	125816369	125816369	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:125816369C>T	uc011cwt.2	+	7	986	c.750C>T	c.(748-750)ttC>ttT	p.F250F	GRAMD3_uc003ktu.3_Silent_p.F235F|GRAMD3_uc011cwv.2_Silent_p.F243F|GRAMD3_uc011cww.2_Silent_p.F131F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Silent_p.F126F|GRAMD3_uc011cwz.2_Silent_p.F219F|GRAMD3_uc011cwu.1_Silent_p.F219F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	235										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AAAACAGTTTCCGAGCAGACC	0.398000														69			11		0	0	0.000151284	0	0
RNF152	220441	broad.mit.edu	37	18	59483638	59483638	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:59483638C>T	uc002lih.1	-	1	471	c.59G>A	c.(58-60)aGc>aAc	p.S20N	RNF152_uc021ula.1_Missense_Mutation_p.S20N	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	20					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GCGCCGGGGGCTGTAGTAATT	0.597000														62			20		0	0	0.000229342	0	0
FOXI1	2299	broad.mit.edu	37	5	169535068	169535068	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:169535068G>A	uc003mai.4	+	1	635	c.590G>A	c.(589-591)tGg>tAg	p.W197*	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	197					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGAATTACTGGACCCTGGAC	0.438000									Pendred syndrome					35			30		0	0	0.000109025	0	0
MLLT4	4301	broad.mit.edu	37	6	168297634	168297634	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:168297634G>A	uc021zik.1	+	9	1495	c.1176G>A	c.(1174-1176)ttG>ttA	p.L392L	MLLT4_uc003qwb.1_Silent_p.L417L|MLLT4_uc003qwc.2_Silent_p.L433L|MLLT4_uc021zij.1_Silent_p.L417L|MLLT4_uc003qwf.3_Silent_p.L118L|MLLT4_uc021zim.1_5'UTR	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	433					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGAAAAGTTGGATGACAACT	0.458000			T	MLL	AL									39			5		0	0	0.000602214	0	0
BLM	641	broad.mit.edu	37	15	91304303	91304304	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:91304303_91304304GG>TT	uc002bpr.3	+	6	1797_1798	c.1700_1701GG>TT	c.(1699-1701)tgg>tTT	p.W567F	BLM_uc010uqh.2_Missense_Mutation_p.W567F|BLM_uc010uqi.2_Missense_Mutation_p.W192F|BLM_uc010bnx.3_Missense_Mutation_p.W567F	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	567					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATGATGACTGGGAAGACATAA	0.361000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					724			20		0	0	6.4e-05	0	0
FGA	2243	broad.mit.edu	37	4	155507765	155507765	+	Silent	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:155507765T>A	uc003iod.1	-	4	874	c.816A>T	c.(814-816)ggA>ggT	p.G272G	FGA_uc003ioe.1_Silent_p.G272G|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	272					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGGTGGAGCCTCCTCGAGTAA	0.542000														41			7		0	0	0.000157383	0	0
DLL1	28514	broad.mit.edu	37	6	170592513	170592513	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:170592513C>T	uc003qxm.3	-	8	2324	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	618					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGAAGTCCGCCTTCTTGTTGG	0.587000														74			22		0	0	0.00047179	0	0
EIF2B3	8891	broad.mit.edu	37	1	45446769	45446770	+	Missense_Mutation	DNP	GG	TT	TT	rs151320540		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:45446769_45446770GG>TT	uc001cmt.2	-	1	277_278	c.71_72CC>AA	c.(70-72)ccc>cAA	p.P24Q	EIF2B3_uc001cmu.2_Missense_Mutation_p.P24Q|EIF2B3_uc001cmw.3_Missense_Mutation_p.P24Q	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	24					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCAGAGGTTTGGGAATGCTGGA	0.431000														281			9		0	0	6.4e-05	0	0
TIPIN	54962	broad.mit.edu	37	15	66641719	66641719	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:66641719G>A	uc002apr.2	-	4	431	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TIPIN_uc010ujn.1_Silent_p.F14F|TIPIN_uc010ujo.1_Silent_p.F14F|SCARNA14_uc010bhp.1_5'Flank	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	Homo sapiens TIMELESS interacting protein (TIPIN), mRNA.	115	Interaction with TIMELESS.				DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						GCAGTTTAGGGAATAGCCTAT	0.378000														176			16		0	0	0.000308642	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350627	41350627	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:41350627G>T	uc002opl.4	-	7	1233	c.1212C>A	c.(1210-1212)ttC>ttA	p.F404L		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	404					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGTTGGAGAAGAAACTGGGGT	0.537000														35			19		7.21436e-19	1.24128e-17	0.000132079	1	0
UBE3C	9690	broad.mit.edu	37	7	156974866	156974866	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:156974866C>T	uc010lqs.3	+	7	1147	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	UBE3C_uc003wnf.2_Missense_Mutation_p.H236Y|UBE3C_uc003wng.2_Missense_Mutation_p.H279Y	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	279					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCAGATTTTTCATTTCATCAT	0.398000														109			39		0	0	0.000147903	0	0
GRB7	2886	broad.mit.edu	37	17	37899512	37899513	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:37899512_37899513CC>TT	uc002hsr.3	+	4	818_819	c.543_544CC>TT	c.(541-546)ttccgg>ttTTgg	p.R182W	GRB7_uc002hss.3_Missense_Mutation_p.R182W|GRB7_uc021twu.1_Missense_Mutation_p.R205W|GRB7_uc010cwc.3_Missense_Mutation_p.R182W|GRB7_uc002hst.3_Missense_Mutation_p.R182W	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	182	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTTCGTCTTCCGGAAAAACTT	0.609000														45			9		0	0	6.4e-05	0	0
RAB5B	5869	broad.mit.edu	37	12	56383810	56383810	+	Silent	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:56383810A>G	uc001siv.3	+	2	423	c.243A>G	c.(241-243)cgA>cgG	p.R81R	RAB5B_uc001siw.3_Silent_p.R81R|RAB5B_uc010spz.2_Silent_p.R81R|RAB5B_uc009zog.3_Intron	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	81					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GGCAGGAGCGATATCACAGCT	0.502000														38			27		0	0	0.000586117	0	0
ZBBX	79740	broad.mit.edu	37	3	167031813	167031813	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:167031813A>C	uc011bpc.2	-	15	1703	c.1366T>G	c.(1366-1368)Tta>Gta	p.L456V	ZBBX_uc003feq.3_Missense_Mutation_p.L427V|ZBBX_uc003fep.3_Missense_Mutation_p.L456V	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	456						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						CAAAGATTTAAGAAGTCTCTC	0.313000														61			28		0	0	0.000279167	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978270	69978270	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:69978270G>A	uc003heg.4	+	5	1452	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	469					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTGTCATGCGCCACAAAGGA	0.463000														63			19		0	0	9.7654e-05	0	0
MECOM	2122	broad.mit.edu	37	3	168807855	168807855	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:168807855C>T	uc011bpj.1	-	14	3737	c.3334G>A	c.(3334-3336)Gga>Aga	p.G1112R	MECOM_uc010hwk.1_Missense_Mutation_p.G938R|MECOM_uc003ffj.3_Missense_Mutation_p.G989R|MECOM_uc003ffi.3_Missense_Mutation_p.G924R|MECOM_uc011bpi.1_Missense_Mutation_p.G916R|MECOM_uc003ffn.3_Missense_Mutation_p.G924R|MECOM_uc003ffk.2_Missense_Mutation_p.G915R|MECOM_uc003ffl.2_Missense_Mutation_p.G1075R|MECOM_uc011bpk.1_Missense_Mutation_p.G924R	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCAGGGTTTCCTTCATGTAAA	0.423000														61			5		0	0	0.000602214	0	0
NOS1	4842	broad.mit.edu	37	12	117696212	117696212	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:117696212C>T	uc001twn.2	-	15	3232	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	NOS1_uc021ren.1_Missense_Mutation_p.E505K|NOS1_uc021reo.1_Missense_Mutation_p.E505K|NOS1_uc001twm.2_Missense_Mutation_p.E841K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	841	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCCTTTCTTCCTGCACAGAG	0.483000														29			20		0	0	0.000375601	0	0
SLC35B1	10237	broad.mit.edu	37	17	47781575	47781575	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:47781575G>A	uc002iph.1	-	5	629	c.542C>T	c.(541-543)aCc>aTc	p.T181I	SLC35B1_uc002ipj.1_Missense_Mutation_p.T57I|SLC35B1_uc010wly.1_Missense_Mutation_p.T181I	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	181						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						TCCATCCAGGGTCAGCGATAA	0.537000														48			11		0	0	0.00010058	0	0
ITPR1	3708	broad.mit.edu	37	3	4829669	4829669	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:4829669T>G	uc003bqc.3	+	50	6959	c.6609T>G	c.(6607-6609)ttT>ttG	p.F2203L	ITPR1_uc021wsi.1_Missense_Mutation_p.F2170L|ITPR1_uc021wsj.1_Missense_Mutation_p.F2155L|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2218					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATAGTCTTTCCCGTGCCCA	0.358000														39			6		0	0	0.000157383	0	0
AADACL3	126767	broad.mit.edu	37	1	12785497	12785497	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:12785497T>G	uc009vnn.1	+	3	820	c.587T>G	c.(586-588)tTt>tGt	p.F196C	AADACL3_uc001aug.1_Missense_Mutation_p.F126C	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	196							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTACTGTTTTTTTCAAAAC	0.468000														124			48		0	0	0.000147903	0	0
TSGA13	114960	broad.mit.edu	37	7	130356596	130356597	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:130356596_130356597CC>AA	uc003vqi.3	-	6	1019_1020	c.562_563GG>TT	c.(562-564)ggg>TTg	p.G188L	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.3_Missense_Mutation_p.G188L	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	188										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAATACTTCCCTTCGCTCTTG	0.406000														344			12		0	0	6.4e-05	0	0
MUC6	4588	broad.mit.edu	37	11	1017387	1017388	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:1017387_1017388CC>AA	uc001lsw.2	-	30	5464_5465	c.5413_5414GG>TT	c.(5413-5415)ggg>TTg	p.G1805L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1805	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGTGGTCCCTGTAGGTGGG	0.594000														426			15		0	0	6.4e-05	0	0
IQGAP2	10788	broad.mit.edu	37	5	75950773	75950773	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:75950773G>A	uc003kek.3	+	19	2487	c.2265G>A	c.(2263-2265)gtG>gtA	p.V755V	IQGAP2_uc010izv.2_Silent_p.V308V|IQGAP2_uc011csv.2_Silent_p.V251V|IQGAP2_uc003kel.3_Silent_p.V251V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	755	IQ 3.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATGAAATTGTGAAAATACAGT	0.353000														94			20		0	0	0.000586117	0	0
KIF11	3832	broad.mit.edu	37	10	94373217	94373218	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:94373217_94373218CC>AA	uc001kic.3	+	7	1181_1182	c.873_874CC>AA	c.(871-876)tccctg>tcAAtg	p.L292M		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	292	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAAATCAATCCCTGTTGACTTT	0.401000														446			14		0	0	6.4e-05	0	0
OR8U8	504189	broad.mit.edu	37	11	56143797	56143797	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:56143797G>A	uc001nit.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233V(1)									TCAGCTGAGGGAAGACAGAAG	0.463000														29			5		0	0	8.12818e-05	0	0
BAI2	576	broad.mit.edu	37	1	32205127	32205127	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:32205127G>A	uc001btn.3	-	14	2631	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Silent_p.L401L|BAI2_uc010ogp.2_Silent_p.L692L|BAI2_uc010ogq.2_Silent_p.L759L|BAI2_uc001bto.3_Silent_p.L759L|BAI2_uc001btp.1_5'Flank|BAI2_uc001btq.1_Silent_p.L692L|BAI2_uc010ogr.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	759					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGGCAGGAAGAGGCGGTCCT	0.682000														34			5		0	0	0.000602214	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434151	72434151	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:72434151C>T	uc004ebi.3	-	0	560	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	60					nucleosome assembly	chromatin assembly complex		p.G59V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCACCGTTTTCCCCTTCTTCC	0.582000														17			20		0	0	0.000175454	0	0
ODZ1	10178	broad.mit.edu	37	X	123775834	123775834	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:123775834G>A	uc010nqy.3	-	10	1948	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	ODZ1_uc011muj.2_Silent_p.C627C|ODZ1_uc004euj.3_Silent_p.C628C	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	628	EGF-like 4.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTGGGTCTAGGCAGTCCTCTG	0.453000														42			25		0	0	9.22233e-05	0	0
COL1A2	1278	broad.mit.edu	37	7	94038674	94038674	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:94038674C>T	uc003ung.1	+	16	1304	c.833C>T	c.(832-834)cCc>cTc	p.P278L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	278					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGCTGGTCCCGCCGGTCCC	0.468000										HNSCC(75;0.22)				66			69		0	0	0.000147903	0	0
TBC1D5	9779	broad.mit.edu	37	3	17349625	17349625	+	Splice_Site	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:17349625T>C	uc010hev.3	-	15	1260	c.996_splice	c.e15-1	p.L332_splice	TBC1D5_uc010heu.3_Splice_Site|TBC1D5_uc003cbf.3_Splice_Site_p.L332_splice|TBC1D5_uc003cbe.3_Splice_Site_p.L332_splice|TBC1D5_uc010hew.1_Splice_Site_p.L284_splice	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	332	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CGCACCCACCTTCTGGAAAGA	0.443000														9			9		0	0	3.86212e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100681346	100681346	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:100681346G>A	uc003uxp.1	+	2	6702	c.6649G>A	c.(6649-6651)Gaa>Aaa	p.E2217K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2217	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)					AACTCCTAGTGAAGGAAGCAC	0.507000														225			49		0	0	0.000147903	0	0
PTPRG	5793	broad.mit.edu	37	3	62180762	62180762	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:62180762C>T	uc003dlb.3	+	9	1964	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	PTPRG_uc003dlc.3_Silent_p.P415P	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	415	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGTCTCACCCGATAGCCTTT	0.502000														46			46		0	0	0.000147903	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349063	55349064	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:55349063_55349064CC>AA	uc002qhm.1	+	2	149_150	c.103_104CC>AA	c.(103-105)cca>AAa	p.P35K	KIR3DL2_uc010yfj.2_Missense_Mutation_p.P28K|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.P35K|KIR3DL2_uc002qhn.1_5'UTR	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	130					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCTGGCCCTCCCAGGTCACCTG	0.485000														328			10		0	0	6.4e-05	0	0
SARS	6301	broad.mit.edu	37	1	109772153	109772154	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109772153_109772154GG>TT	uc001dwu.2	+	3	506_507	c.406_407GG>TT	c.(406-408)ggg>TTg	p.G136L		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	136					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CCGAGAGATTGGGAACCTTCTG	0.550000														341			12		0	0	6.4e-05	0	0
S100Z	170591	broad.mit.edu	37	5	76173513	76173514	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:76173513_76173514CC>AA	uc003kep.1	+	3	486_487	c.156_157CC>AA	c.(154-159)acccag>acAAag	p.Q53K	S100Z_uc003keq.4_Missense_Mutation_p.Q53K	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	53	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AAAAGGAAACCCAGTTGGTTGA	0.396000														439			12		0	0	6.4e-05	0	0
CPN2	1370	broad.mit.edu	37	3	194061932	194061932	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:194061932G>A	uc003fts.3	-	1	1590	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	CPN2_uc021xix.1_Silent_p.R500R	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	500					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	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;4.65e-05)		CGTTCAGCCAGCGACACTGGG	0.652000														11			9		0	0	0.000274275	0	0
ANK2	287	broad.mit.edu	37	4	114288909	114288909	+	Silent	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:114288909C>G	uc003ibe.4	+	41	11320	c.11220C>G	c.(11218-11220)ctC>ctG	p.L3740L	ANK2_uc003ibd.4_Silent_p.L1646L|ANK2_uc003ibf.4_Silent_p.L1655L|ANK2_uc011cgc.2_Silent_p.L831L|ANK2_uc003ibg.4_Silent_p.L639L|ANK2_uc003ibh.4_Silent_p.L329L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3707					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAACAGCACTCTTTCCCCAAA	0.468000														33			20		0	0	0.000229342	0	0
CBX8	57332	broad.mit.edu	37	17	77769887	77769887	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:77769887C>T	uc002jxd.2	-	3	333	c.215G>A	c.(214-216)cGt>cAt	p.R72H		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	72					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTGGGTCCACGCTTTTTGGG	0.517000														191			41		0	0	0.000147903	0	0
PRR23C	389152	broad.mit.edu	37	3	138763116	138763116	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:138763116C>T	uc011bmt.1	-	0	619	c.347G>A	c.(346-348)gGc>gAc	p.G116D		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	116										breast(2)|lung(7)|skin(2)	11						AGACCAGTCGCCCTGCGCTCC	0.632000														4			4		0	0	3.59834e-05	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923759	43923760	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:43923759_43923760TG>AT	uc010wka.2	+	0	1504_1505	c.1487_1488TG>AT	c.(1486-1488)atg>aAT	p.M496N	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	496						integral to membrane	aspartic-type endopeptidase activity										CTCATGCAGATGGGCCAACCTG	0.614000														23			48		0	0	6.4e-05	0	0
TRIB1	10221	broad.mit.edu	37	8	126445652	126445653	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:126445652_126445653GG>TT	uc003yrx.3	+	1	1036_1037	c.454_455GG>TT	c.(454-456)ggg>TTg	p.G152L	TRIB1_uc011lis.2_5'UTR|TRIB1_uc010mdn.3_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	152	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGTGATCCTTGGGGAAACCAAG	0.525000														719			14		0	0	6.4e-05	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1811260	1811260	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:1811260C>T	uc010uvl.2	+	12	1613	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.P497L|MAPK8IP3_uc002cml.3_Missense_Mutation_p.P487L|MAPK8IP3_uc021tah.1_Missense_Mutation_p.P491L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	497					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGCCGTGAACCCAAAGAAGAG	0.582000														67			14		0	0	7.07596e-05	0	0
C7orf29	113763	broad.mit.edu	37	7	150027541	150027541	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:150027541G>A	uc003wgy.3	+	0	604	c.48G>A	c.(46-48)gtG>gtA	p.V16V	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	16										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGAGCCAGGTGCTGCCCCAGC	0.642000														83			8		0	0	3.86212e-05	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660858	100660858	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:100660858C>T	uc009ztv.1	-	1	1	c.-2_splice	c.e1-1		SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Splice_Site|DEPDC4_uc001thi.3_Splice_Site|DEPDC4_uc001thj.1_Splice_Site|DEPDC4_uc001thk.1_Splice_Site|DEPDC4_uc001thl.1_Splice_Site	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.						intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GCACCATAGCCCCGCCCCACC	0.642000														26			9		0	0	0.000442599	0	0
SYN2	6854	broad.mit.edu	37	3	12187282	12187283	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:12187282_12187283CC>AA	uc003bwm.3	+	6	783_784	c.619_620CC>AA	c.(619-621)ccc>AAc	p.P207N	SYN2_uc003bwl.1_Missense_Mutation_p.P207N	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	211					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCAGGCCTCCCCAGCATCAAC	0.550000														294			9		0	0	6.4e-05	0	0
LOC646214	646214	broad.mit.edu	37	15	21937189	21937189	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:21937189C>T	uc010tzj.1	-	0		c.3551G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AATTCATCTCCTACCAGGTAA	0.408000														126			17		0	0	0.000175454	0	0
TMEM89	440955	broad.mit.edu	37	3	48659036	48659036	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:48659036G>A	uc011bbo.2	-	0	154	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	52						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACAGCTCAGGCCACCCCTA	0.642000														23			9		0	0	0.000442599	0	0
PDE1B	5153	broad.mit.edu	37	12	54966423	54966424	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:54966423_54966424GG>TT	uc001sgd.2	+	6	1026_1027	c.633_634GG>TT	c.(631-636)ttggag>ttTTag	p.211_212LE>F*	PDE1B_uc010soz.2_Nonsense_Mutation_p.74_75LE>F*|PDE1B_uc010spa.1_Nonsense_Mutation_p.170_171LE>F*|PDE1B_uc001sge.3_Nonsense_Mutation_p.191_192LE>F*|PDE1B_uc001sgf.3_Nonsense_Mutation_p.74_75LE>F*|PDE1B_uc009znq.3_Nonsense_Mutation_p.7_8LE>F*	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	211	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGGATGCCTTGGAGACAGGCTA	0.500000														482			12		0	0	6.4e-05	0	0
CTNND2	1501	broad.mit.edu	37	5	11364983	11364983	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:11364983G>T	uc003jfa.1	-	7	1342	c.1197C>A	c.(1195-1197)taC>taA	p.Y399*	CTNND2_uc010itt.2_Nonsense_Mutation_p.Y308*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Y62*|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	399					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTGGCTGCTGTATGAGGCTC	0.507000														63			12		3.27435e-08	5.57494e-07	0.000219431	1	0
ITGA5	3678	broad.mit.edu	37	12	54798495	54798495	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:54798495C>T	uc001sga.3	-	12	1477	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	ITGA5_uc010sow.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	470					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ACCAGGATATCCATTGCCATC	0.562000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			37		0	0	0.000589545	0	0
SELE	6401	broad.mit.edu	37	1	169695945	169695945	+	Missense_Mutation	SNP	G	A	A	rs3917429	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:169695945G>A	uc001ggm.4	-	10	1805	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	550			P -> S (in dbSNP:rs3917429).		actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GACTCAGTGGGAGCTAAGGAA	0.463000														10			8		0	0	0.000274275	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015874	145015874	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:145015874G>A	uc001elx.4	-	2	597	c.214C>T	c.(214-216)Cga>Tga	p.R72*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Nonsense_Mutation_p.R72*|PDE4DIP_uc001elo.3_Nonsense_Mutation_p.R143*|PDE4DIP_uc001emh.3_Nonsense_Mutation_p.R143*|BX647792_uc001emj.3_Intron	NM_001198832	NP_001185761	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA.	6					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCAAAGTCTCGAAGAGCCTGG	0.438000			T	PDGFRB	MPD									653			91		0	0	0.000147903	0	0
FAM135B	51059	broad.mit.edu	37	8	139164878	139164878	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:139164878C>T	uc003yuy.3	-	12	2011	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	FAM135B_uc003yux.3_Missense_Mutation_p.E515K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E176K|FAM135B_uc003yvb.3_Missense_Mutation_p.E176K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	614										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTACTTAATTCATGGAGAGTT	0.453000										HNSCC(54;0.14)				136			18		0	0	0.000132079	0	0
TRPS1	7227	broad.mit.edu	37	8	116599467	116599467	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:116599467G>T	uc003yny.3	-	4	3039	c.2461C>A	c.(2461-2463)Caa>Aaa	p.Q821K	TRPS1_uc011lhy.2_Missense_Mutation_p.Q812K|TRPS1_uc003ynz.3_Missense_Mutation_p.Q808K|TRPS1_uc010mcy.3_Missense_Mutation_p.Q808K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	808					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCTTGCTTGGGTGTATGAC	0.587000									Langer-Giedion syndrome					177			8		0.000442599	0.00743233	0.000442599	1	0
SORT1	6272	broad.mit.edu	37	1	109883495	109883496	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109883495_109883496CC>AA	uc001dxm.2	-	9	1163_1164	c.1114_1115GG>TT	c.(1114-1116)ggg>TTg	p.G372L	SORT1_uc010ovi.2_Missense_Mutation_p.G235L	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	372					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGTGCCAAACCCAGTGTCTGAA	0.441000														283			9		0	0	6.4e-05	0	0
KCNB2	9312	broad.mit.edu	37	8	73848248	73848248	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:73848248G>A	uc003xzb.3	+	2	1246	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	220					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGCTGCAGGAAACGGACGA	0.473000														191			48		0	0	0.000125731	0	0
SFRP1	6422	broad.mit.edu	37	8	41166145	41166145	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:41166145G>A	uc003xnt.3	-	0	846	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	178					DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CTTGGGGCTTGGAGGCTTCGG	0.677000														4			6		0	0	0.000157383	0	0
DAB2	1601	broad.mit.edu	37	5	39381706	39381706	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:39381706C>T	uc003jlx.3	-	10	1885	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	DAB2_uc003jlw.3_Missense_Mutation_p.D431N	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	452					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCAAGCAAGTCATTGGCTGAA	0.527000														40			11		0	0	0.00010058	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869811	108869811	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:108869811C>T	uc010ywo.2	+	2	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	104						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTTGGAGTTCGTTCTTGAAA	0.358000														14			4		0	0	0.000602214	0	0
PSG7	5676	broad.mit.edu	37	19	43430822	43430822	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:43430822C>T	uc002ovl.4	-	4	855	c.753G>A	c.(751-753)agG>agA	p.R251R	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.R130R	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	252	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				CCTTATTCTCCCTGGGGTTTA	0.493000														124			40		0	0	0.000125731	0	0
HMGCR	3156	broad.mit.edu	37	5	74645947	74645948	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:74645947_74645948CC>AA	uc011cst.2	+	6	949_950	c.697_698CC>AA	c.(697-699)cca>AAa	p.P233K	HMGCR_uc003kdp.3_Missense_Mutation_p.P213K|HMGCR_uc003kdq.3_Missense_Mutation_p.P213K|HMGCR_uc010izn.1_Missense_Mutation_p.P53K	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	213					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GACTTTCTTCCCAGCTTGTGTG	0.396000														616			14		0	0	6.4e-05	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161680	57161680	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:57161680C>T	uc001cyk.4	+	5	707	c.636C>T	c.(634-636)ctC>ctT	p.L212L		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	212	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTGGCACCCTCCCATTTGATG	0.423000														270			38		0	0	0.000132358	0	0
RYR2	6262	broad.mit.edu	37	1	237778068	237778068	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:237778068G>A	uc001hyl.1	+	36	5760	c.5640G>A	c.(5638-5640)gaG>gaA	p.E1880E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1880	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGCTGGTGAGGAAGAAGCCA	0.537000														39			6		0	0	0.000157383	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256433	69256433	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:69256433G>A	uc021rve.1	-	2	1135	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	ZFP36L1_uc001xki.2_Silent_p.L278L|ZFP36L1_uc001xkh.2_Silent_p.L278L	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	278					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGCCGGAAGAGGAAGGTGG	0.627000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			13		0	0	0.00010058	0	0
TRPC7	57113	broad.mit.edu	37	5	135692426	135692426	+	Missense_Mutation	SNP	G	A	A	rs138178870	by1000genomes	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:135692426G>A	uc003lbn.2	-	1	872	c.650C>T	c.(649-651)tCg>tTg	p.S217L	TRPC7_uc010jef.2_Missense_Mutation_p.S208L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.S217L|TRPC7_uc010jei.2_Missense_Mutation_p.S217L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	217					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R216L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTCATGCGCGAGCGCGAGTG	0.612000														32			9		0	0	0.000274275	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650952	94650952	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:94650952C>T	uc001dqj.4	-	16	2235	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.T188T	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	622					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.T622T(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCCTACATTTCGTGGGGGATC	0.398000														85			7		0	0	0.000157383	0	0
TLR6	10333	broad.mit.edu	37	4	38830970	38830970	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:38830970C>T	uc010ifg.2	-	1	246	c.125G>A	c.(124-126)gGt>gAt	p.G42D	TLR6_uc003gtm.3_Missense_Mutation_p.G42D	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	42					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.R41T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGAATAAGACCTCTTTTTGA	0.393000														141			33		0	0	0.000339439	0	0
CBLN3	643866	broad.mit.edu	37	14	24898030	24898030	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:24898030G>A	uc001wpg.4	-	0	702	c.231C>T	c.(229-231)gtC>gtT	p.V77V	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	77	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GGTGGCTTCGGACCGCAGCAA	0.677000														15			4		0	0	0.00024832	0	0
C8orf37	157657	broad.mit.edu	37	8	96272124	96272125	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:96272124_96272125CG>AT	uc003yho.2	-	3	362_363	c.317_318CG>AT	c.(316-318)ccg>cAT	p.P106H		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	Homo sapiens chromosome 8 open reading frame 37 (C8orf37), mRNA.	106										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CAAGGTACACCGGACTGCAACT	0.327000														692			10		0	0	6.4e-05	0	0
SYCP2L	221711	broad.mit.edu	37	6	10912947	10912947	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:10912947C>T	uc003mzo.3	+	12	1256	c.960C>T	c.(958-960)atC>atT	p.I320I	SYCP2L_uc011din.1_Silent_p.I161I|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	320						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATTTTGGATCGACTTCAACC	0.348000														89			16		0	0	9.7654e-05	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54677707	54677708	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:54677707_54677708CC>AA	uc001sfl.3	+	8	1123_1124	c.1019_1020CC>AA	c.(1018-1020)ccc>cAA	p.P340Q	HNRNPA1_uc001sfm.3_Missense_Mutation_p.P288Q|HNRNPA1_uc001sfn.3_Missense_Mutation_p.P235Q|HNRNPA1_uc001sfo.3_Non-coding_Transcript|HNRNPA1_uc009znj.1_Missense_Mutation_p.P243Q	NM_031157	NP_112420	P09651	ROA1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), transcript variant 2, mRNA.	340	Gly-rich.|Nuclear targeting sequence (M9).				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGCTCTGGCCCCTATGGCGGTG	0.441000														180			10		0	0	6.4e-05	0	0
POLQ	10721	broad.mit.edu	37	3	121208690	121208690	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:121208690A>T	uc003eee.4	-	15	3217	c.3088T>A	c.(3088-3090)Ttc>Atc	p.F1030I	POLQ_uc003eed.3_Missense_Mutation_p.F202I	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1030					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTGAATTGAAATTCAAAGGT	0.413000								DNA polymerases (catalytic subunits)						93			33		0	0	0.000409698	0	0
ATMIN	23300	broad.mit.edu	37	16	81077589	81077589	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:81077589A>T	uc002ffz.1	+	3	1504	c.1486A>T	c.(1486-1488)Agt>Tgt	p.S496C	ATMIN_uc002fga.2_Missense_Mutation_p.S338C|ATMIN_uc010vnn.1_Missense_Mutation_p.S267C|ATMIN_uc002fgb.1_Missense_Mutation_p.S338C	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	496					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AACTCAAACCAGTGGGATAGA	0.448000														36			17		0	0	0.000566183	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:53770583C>T	uc010ydu.2	-	0	336	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)				27			4		0	0	3.59834e-05	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821469	12821469	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:12821469G>A	uc003zkw.3	+	1	1100	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	136																	GTGGATGATCGAAGAAAAAGC	0.517000														42			39		0	0	0.000191422	0	0
NUP210	23225	broad.mit.edu	37	3	13368735	13368735	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:13368735C>T	uc003bxv.1	-	31	4572	c.4489G>A	c.(4489-4491)Gtt>Att	p.V1497I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1497					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)					CTGGTCAGAACAGTGGCCAGA	0.637000														10			5		0	0	3.59834e-05	0	0
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:123742403G>A	uc004bkv.3	-	27	3646	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1206					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408000														74			16		0	0	0.000229342	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1344506	1344506	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:1344506A>C	uc003jch.3	-	1	269	c.223T>G	c.(223-225)Ttg>Gtg	p.L75V	CLPTM1L_uc003jcg.3_5'Flank|DQ598099_uc021xwf.1_5'Flank	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	75					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCCACATTCAAGACCAGGTCG	0.512000														30			17		0	0	0.000175454	0	0
COL6A6	131873	broad.mit.edu	37	3	130284128	130284128	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:130284128G>A	uc010htl.3	+	2	983	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	318	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTCAGGAAGGAAGTTTTTAG	0.507000														69			12		0	0	6.40141e-05	0	0
LRPPRC	10128	broad.mit.edu	37	2	44204320	44204321	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:44204320_44204321CC>AA	uc002rtr.2	-	3	622_623	c.564_565GG>TT	c.(562-567)atggag>atTTag	p.188_189ME>I*	LRPPRC_uc010yob.1_Nonsense_Mutation_p.88_89ME>I*|LRPPRC_uc010faw.1_Nonsense_Mutation_p.162_163ME>I*	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	188					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTGCTTCCTCCATTTTTGCCA	0.307000														542			14		0	0	6.4e-05	0	0
ESCO1	114799	broad.mit.edu	37	18	19153975	19153976	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:19153975_19153976GG>TT	uc002kth.1	-	3	1763_1764	c.829_830CC>AA	c.(829-831)cca>AAa	p.P277K	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	277					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.P277Q(2)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGGACTTTTTGGGAGTGTTGTG	0.421000														154			9		0	0	6.4e-05	0	0
OR8B4	283162	broad.mit.edu	37	11	124294453	124294453	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:124294453G>A	uc010sak.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATTGACAAAGAAACAGAAGA	0.433000														26			10		0	0	3.86212e-05	0	0
KLHDC5	57542	broad.mit.edu	37	12	27950650	27950651	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:27950650_27950651CG>AT	uc001rij.3	+	2	1146_1147	c.1069_1070CG>AT	c.(1069-1071)cgg>ATg	p.R357M		NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	Homo sapiens kelch domain containing 5 (KLHDC5), mRNA.	357										breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|urinary_tract(1)	23	Lung SC(9;0.0873)					TCTTTCAGACCGGAACATGAAC	0.470000														345			11		0	0	6.4e-05	0	0
SSX3	10214	broad.mit.edu	37	X	48213512	48213512	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:48213512G>A	uc004djd.1	-	3	296	c.202C>T	c.(202-204)Cca>Tca	p.P68S	SSX3_uc004dje.3_Missense_Mutation_p.P68S|SSX3_uc010nic.3_Missense_Mutation_p.P68S	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	68	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						ATGAAAGATGGGAGGATGGCC	0.468000														29			17		0	0	9.7654e-05	0	0
TRHR	7201	broad.mit.edu	37	8	110100443	110100443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:110100443G>A	uc003ymz.4	+	0	791	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	234						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTAAGACATGGAAAAATGATT	0.378000														29			18		0	0	7.07596e-05	0	0
SGK223	157285	broad.mit.edu	37	8	8185578	8185578	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:8185578C>T	uc003wsh.4	-	3	2714	c.2714G>A	c.(2713-2715)aGc>aAc	p.S905N		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	905							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGCCAGGGCTCCCGCAGCC	0.657000														50			13		0	0	0.00010058	0	0
STAU1	6780	broad.mit.edu	37	20	47734876	47734876	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:47734876C>T	uc002xud.3	-	9	1594	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	STAU1_uc002xua.3_Missense_Mutation_p.G314R|STAU1_uc002xub.3_Missense_Mutation_p.G320R|STAU1_uc002xuc.3_Missense_Mutation_p.G314R|STAU1_uc002xue.3_Missense_Mutation_p.G314R|STAU1_uc002xuf.3_Missense_Mutation_p.G320R|STAU1_uc002xug.3_Missense_Mutation_p.G395R	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	395						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTACTAGTCCCATTTTCATCC	0.438000														40			24		0	0	0.000117367	0	0
NBPF7	343505	broad.mit.edu	37	1	120382883	120382884	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:120382883_120382884GG>TT	uc010oxk.2	-	3	1243_1244	c.622_623CC>AA	c.(622-624)ccc>AAc	p.P208N		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	208	NBPF 1.					cytoplasm		p.P208P(1)		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)		GTCTTACCTGGGAGCAGGTGAT	0.401000														414			18		0	0	6.4e-05	0	0
GCFC1	94104	broad.mit.edu	37	21	34133374	34133375	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:34133374_34133375GG>TT	uc002yqn.3	-	4	1160_1161	c.970_971CC>AA	c.(970-972)cct>AAt	p.P324N	GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Missense_Mutation_p.P324N|GCFC1_uc002yqr.2_Missense_Mutation_p.P324N	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	324						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TCGTACCTGAGGGATATTAATT	0.342000														291			19		0	0	6.4e-05	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270426	1270426	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:1270426C>G	uc002cks.3	+	34	6742	c.6494C>G	c.(6493-6495)cCt>cGt	p.P2165R	CACNA1H_uc002ckt.3_Missense_Mutation_p.P2159R|CACNA1H_uc002cku.3_Missense_Mutation_p.P860R|CACNA1H_uc010brj.3_Missense_Mutation_p.P876R|CACNA1H_uc002ckv.3_Missense_Mutation_p.P854R	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2165					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)	AGCGGGGAGCCTGGGGAGGCG	0.716000														23			4		0	0	0.000602214	0	0
WDR35	57539	broad.mit.edu	37	2	20173356	20173356	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:20173356T>C	uc002rdi.3	-	7	958	c.850A>G	c.(850-852)Aac>Gac	p.N284D	WDR35_uc002rdj.3_Missense_Mutation_p.N284D|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	284										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCACAATGTTCACATCTTTG	0.443000														28			41		0	0	0.000589545	0	0
OR10H4	126541	broad.mit.edu	37	19	16060767	16060767	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:16060767G>A	uc010xov.2	+	1	951	c.951_splice	c.e1+1	p.*317_splice		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCAAGTTCCTGAGCGCCAGTT	0.388000														24			17		0	0	0.000566183	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126022	8126023	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:8126022_8126023CG>AT	uc003srk.3	+	7	2057_2058	c.1498_1499CG>AT	c.(1498-1500)cgg>ATg	p.R500M		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	500										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCTCTCATCCCGGGTTTCCTTT	0.574000														193			7		0	0	6.4e-05	0	0
SMARCC1	6599	broad.mit.edu	37	3	47762209	47762210	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:47762209_47762210CG>AT	uc003crq.2	-	6	780_781	c.662_663CG>AT	c.(661-663)ccg>cAT	p.P221H	SMARCC1_uc011bbd.1_Missense_Mutation_p.P112H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	221					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCTCATCACCGGTCTCAACCA	0.351000														225			7		0	0	6.4e-05	0	0
NUP160	23279	broad.mit.edu	37	11	47825067	47825067	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:47825067G>A	uc001ngm.3	-	21	2783	c.2698C>T	c.(2698-2700)Ccc>Tcc	p.P900S	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.P900S	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	900					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGACACCAGGGATGTAGCAGT	0.378000														48			43		0	0	0.000147903	0	0
APOB	338	broad.mit.edu	37	2	21235361	21235361	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:21235361G>A	uc002red.3	-	25	4507	c.4379C>T	c.(4378-4380)tCc>tTc	p.S1460F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1460					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGTCCCCAGGAACTAGATGC	0.388000														231			100		0	0	0.000147903	0	0
TTN	7273	broad.mit.edu	37	2	179596099	179596099	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:179596099C>T	uc021vsy.1	-	55	13887	c.13662G>A	c.(13660-13662)ggG>ggA	p.G4554G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G1215G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5481	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACATATTTCCCATCATGCT	0.408000														63			28		0	0	0.000184323	0	0
MED7	9443	broad.mit.edu	37	5	156566141	156566142	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:156566141_156566142CC>AA	uc010jik.3	-	1	693_694	c.301_302GG>TT	c.(301-303)ggg>TTg	p.G101L	MED7_uc003lwm.4_Missense_Mutation_p.G101L|MED7_uc021ygl.1_Missense_Mutation_p.G101L	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	101					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTATACTCCCAGGGCTCCTT	0.361000														749			13		0	0	6.4e-05	0	0
CPXM2	119587	broad.mit.edu	37	10	125521563	125521563	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:125521563C>T	uc001lhk.1	-	10	1927	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	534					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTGCGTCTTCCAGGGGGACC	0.642000														34			15		0	0	0.000308642	0	0
STK11	6794	broad.mit.edu	37	19	1218458	1218458	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:1218458C>T	uc002lrl.1	+	1	1448	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	111	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.E98_G155del(3)|p.?(3)|p.G52_P179del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAATGTCATCCAGCTGGTGG	0.557000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				116			53		0	0	0.000147903	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140264055	140264055	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:140264055G>A	uc003lif.2	+	0	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	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_uc003lie.1_Silent_p.P734P|PCDHAC2_uc003lid.3_Silent_p.P734P	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	743					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)			CGTGCGCGCCGGGCAAGCCCA	0.682000														65			27		0	0	0.000191422	0	0
CREB5	9586	broad.mit.edu	37	7	28534569	28534569	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:28534569G>A	uc003szq.3	+	2	511	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	CREB5_uc003szo.3_Missense_Mutation_p.E8K|CREB5_uc003szr.3_Missense_Mutation_p.E34K	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	41					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GCACAAACATGAAATGACTTT	0.413000														277			153		0	0	0.000147903	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93157888	93157889	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:93157888_93157889GG>TT	uc001tcj.2	+	9	1082_1083	c.852_853GG>TT	c.(850-855)gagggt>gaTTgt	p.284_285EG>DC		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	284	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TAATAAAAGAGGGTGGTTCGTG	0.386000														120			9		0	0	6.4e-05	0	0
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:73849053C>T	uc003xzb.3	+	2	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	488					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATCACCTGTCGCCAAGCCGG	0.527000														163			25		0	0	0.00047179	0	0
CINP	51550	broad.mit.edu	37	14	102825821	102825822	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:102825821_102825822CC>AA	uc021sea.1	-	1	244_245	c.155_156GG>TT	c.(154-156)tgg>tTT	p.W52F	CINP_uc001ylu.1_Non-coding_Transcript|CINP_uc001ylv.1_Missense_Mutation_p.W37F|CINP_uc021seb.1_Missense_Mutation_p.W37F	NM_001177611	NP_001171082	Q9BW66	CINP_HUMAN	Homo sapiens cyclin-dependent kinase 2 interacting protein (CINP), transcript variant 1, mRNA.	37					DNA repair|DNA replication|cell cycle|cell division	nucleus	protein binding	p.A52V(1)		large_intestine(2)|lung(2)	4						TGAGGGTTTCCCACTTCAGGAT	0.371000														56			6		0	0	6.4e-05	0	0
MEF2C	4208	broad.mit.edu	37	5	88027647	88027647	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:88027647G>A	uc003kjl.3	-	8	1192	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	MEF2C_uc021ybg.1_Nonsense_Mutation_p.Q189*|MEF2C_uc021ybh.1_Nonsense_Mutation_p.Q189*|MEF2C_uc003kji.2_Nonsense_Mutation_p.Q237*|MEF2C_uc003kjj.3_Nonsense_Mutation_p.Q237*|MEF2C_uc003kjk.3_Nonsense_Mutation_p.Q237*|MEF2C_uc003kjm.3_Nonsense_Mutation_p.Q235*	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	237					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GATTTTGCTTGCATATTCTTG	0.433000										HNSCC(66;0.2)				23			5		0	0	0.000602214	0	0
LY6G6C	80740	broad.mit.edu	37	6	31687001	31687002	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31687001_31687002CC>AA	uc003nwh.3	-	2	304_305	c.249_250GG>TT	c.(247-252)ctgggt>ctTTgt	p.G84C	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	84	UPAR/Ly6.					anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TATGTCAGACCCAGCTTGCGGT	0.574000														460			14		0	0	6.4e-05	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858016	9858016	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:9858016G>A	uc010uym.2	-	13	3695	c.3385C>T	c.(3385-3387)Cac>Tac	p.H1129Y	GRIN2A_uc002czo.4_Missense_Mutation_p.H1129Y|GRIN2A_uc010uyn.2_Missense_Mutation_p.H972Y|GRIN2A_uc002czr.4_Missense_Mutation_p.H1129Y	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1129					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			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)	GGATCTAAGTGGAAACCAGGC	0.522000														83			14		0	0	0.000219431	0	0
MAEL	84944	broad.mit.edu	37	1	166959028	166959028	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:166959028G>A	uc001gdy.1	+	1	258	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	MAEL_uc021peh.1_Missense_Mutation_p.A7T|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	63					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AGAATGGAGGGCCGCTCAGGG	0.517000														26			10		0	0	0.00010058	0	0
LRP1	4035	broad.mit.edu	37	12	57588878	57588878	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:57588878C>T	uc001snd.3	+	50	8768	c.8302C>T	c.(8302-8304)Cac>Tac	p.H2768Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2768	LDL-receptor class A 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGGCTGCTCACTGTGGTAA	0.632000														38			38		0	0	0.000589545	0	0
abParts	0	broad.mit.edu	37	14	106452801	106452801	+	RNA	SNP	C	T	T	rs11553007		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:106452801C>T	uc021ser.1	-	2607		c.45159G>A								Parts of antibodies, mostly variable regions.																		TGTGCCACCACTGTTAGGGTT	0.552000														59			9		0	0	3.86212e-05	0	0
CXorf23	256643	broad.mit.edu	37	X	19948046	19948046	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:19948046C>T	uc004czp.3	-	9	1876	c.1876G>A	c.(1876-1878)Ggt>Agt	p.G626S	CXorf23_uc011mjg.2_Intron|CXorf23_uc004czo.3_Missense_Mutation_p.G605S	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	655						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CATCTGCCACCTCTAAAGTTG	0.433000														59			43		0	0	0.000147903	0	0
FREM1	158326	broad.mit.edu	37	9	14863874	14863874	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:14863874C>T	uc003zlm.3	-	3	1078	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	88					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.E88K(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACTTGACTTCGTTGGGAAGG	0.413000														46			7		0	0	3.86212e-05	0	0
SOGA3	387104	broad.mit.edu	37	6	127796649	127796649	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:127796649G>A	uc003qbd.3	-	5	3387	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	841						integral to membrane											GCGCGCCTCGGTGATGATGGT	0.652000														44			51		0	0	0.000147903	0	0
PCSK1	5122	broad.mit.edu	37	5	95757642	95757642	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:95757642C>T	uc003kls.2	-	4	801	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PCSK1_uc021ybq.1_Missense_Mutation_p.D141N	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	188	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATTAAAATCATAGCTAGCC	0.328000														165			42		0	0	0.000125731	0	0
LILRB2	10288	broad.mit.edu	37	19	54783826	54783826	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:54783826G>A	uc002qfb.3	-	3	441	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R59C|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R59C|LILRB2_uc010yet.2_Intron|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	59	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTATATAGACGGTACTCCTGG	0.547000														129			28		0	0	9.22233e-05	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108095	95108095	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:95108095G>A	uc001ydt.3	+	1	700	c.612G>A	c.(610-612)gcG>gcA	p.A204A						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						GCCTGGGCGCGAGGGCCAACC	0.632000														46			11		0	0	0.00010058	0	0
VCAN	1462	broad.mit.edu	37	5	82835754	82835754	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:82835754T>G	uc003kii.3	+	7	7288	c.6932T>G	c.(6931-6933)gTt>gGt	p.V2311G	VCAN_uc003kij.3_Missense_Mutation_p.V1324G|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.V975G	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2311	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCAAAAGAAGTTGGACCACTC	0.388000														45			7		0	0	0.000274275	0	0
NPY2R	4887	broad.mit.edu	37	4	156135711	156135711	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:156135711G>A	uc003ioq.3	+	1	1109	c.620G>A	c.(619-621)tGg>tAg	p.W207*	NPY2R_uc003ior.3_Nonsense_Mutation_p.W207*|NPY2R_uc021xtm.1_Nonsense_Mutation_p.W207*	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	207					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACTGAAAAGTGGCCTGGCGAG	0.488000														65			34		0	0	0.000125731	0	0
FCHSD2	9873	broad.mit.edu	37	11	72560919	72560920	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:72560919_72560920CG>AT	uc009ytl.3	-	13	1544_1545	c.1323_1324CG>AT	c.(1321-1326)accgaa>acATaa	p.E442*	FCHSD2_uc010rrg.2_Nonsense_Mutation_p.E306*|FCHSD2_uc001oth.4_Nonsense_Mutation_p.E386*|FCHSD2_uc001oti.2_Nonsense_Mutation_p.E401*	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	442							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTTCTCTTTCGGTATCTGCAT	0.386000														507			9		0	0	6.4e-05	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442540	37442541	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:37442540_37442541CC>AA	uc021ppc.1	+	12	1679_1680	c.1580_1581CC>AA	c.(1579-1581)ccc>cAA	p.P527Q	ANKRD30A_uc001iza.1_Missense_Mutation_p.P527Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	583						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						GTGTGTTTACCCAAGGCTACAC	0.297000														491			12		0	0	6.4e-05	0	0
MED12L	116931	broad.mit.edu	37	3	150845620	150845620	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:150845620C>T	uc003eyp.3	+	3	534	c.405C>T	c.(403-405)atC>atT	p.I135I	MED12L_uc011bnz.2_Silent_p.I135I|MED12L_uc003eym.1_Silent_p.I135I|MED12L_uc003eyn.3_Silent_p.I135I|MED12L_uc003eyo.3_Silent_p.I135I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	135					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTTCCTATCCTTAGTAAAA	0.338000														34			18		0	0	9.7654e-05	0	0
MASP1	5648	broad.mit.edu	37	3	186980348	186980348	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:186980348G>A	uc003frh.2	-	2	788	c.398C>T	c.(397-399)gCc>gTc	p.A133V	MASP1_uc003fri.3_Missense_Mutation_p.A133V|MASP1_uc003frj.3_Missense_Mutation_p.A102V|MASP1_uc003frk.2_Missense_Mutation_p.A133V|MASP1_uc011bse.2_Missense_Mutation_p.A107V	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	133	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATGTAGTGGGCATCAAAGCC	0.527000														18			13		0	0	0.000151284	0	0
UPF2	26019	broad.mit.edu	37	10	12046597	12046598	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:12046597_12046598GG>TT	uc001ila.3	-	3	1909_1910	c.1435_1436CC>AA	c.(1435-1437)cca>AAa	p.P479K	UPF2_uc001ilb.3_Missense_Mutation_p.P479K|UPF2_uc001ilc.3_Missense_Mutation_p.P479K|UPF2_uc009xiz.2_Missense_Mutation_p.P479K	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	479					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAAGATGGCTGGGACAAAAGCC	0.347000														459			13		0	0	6.4e-05	0	0
SPTA1	6708	broad.mit.edu	37	1	158646001	158646001	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:158646001G>A	uc001fst.1	-	7	1241	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	348					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGAGACCAGATCTTCTTTC	0.478000														27			7		0	0	0.000157383	0	0
GDF2	2658	broad.mit.edu	37	10	48414365	48414365	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:48414365C>T	uc001jfa.1	-	1	663	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	168					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GACCACGCTTCCTTTCAGGTC	0.507000														24			17		0	0	0.000132079	0	0
SCN10A	6336	broad.mit.edu	37	3	38793780	38793780	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:38793780G>A	uc003ciq.3	-	10	1685	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	562					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)	TCCATGCCTGGAGTCAGGGTT	0.607000														62			10		0	0	3.86212e-05	0	0
PSD4	23550	broad.mit.edu	37	2	113942615	113942615	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:113942615G>A	uc002tjc.3	+	2	1321	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.D379N|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	380					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						tgtcggatctgatcttggccc	0.537000														55			25		0	0	0.00047179	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876361	120876361	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:120876361C>T	uc003eec.4	+	8	904	c.764C>T	c.(763-765)tCa>tTa	p.S255L	STXBP5L_uc011bji.2_Missense_Mutation_p.S255L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	255					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCTATTCATTCAATTGATTGG	0.358000														40			6		0	0	8.12818e-05	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389917	77389917	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:77389917G>A	uc002ffc.4	-	8	1799	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	ADAMTS18_uc010chc.1_Silent_p.I48I|ADAMTS18_uc002ffe.1_Silent_p.I156I|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	460	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGAGACATGATATTGCCTT	0.448000														37			11		0	0	0.000219431	0	0
DOCK10	55619	broad.mit.edu	37	2	225666651	225666651	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:225666651A>C	uc010fwz.1	-	39	4614	c.4375T>G	c.(4375-4377)Tta>Gta	p.L1459V	DOCK10_uc002vob.2_Missense_Mutation_p.L1453V|DOCK10_uc002voa.2_Missense_Mutation_p.L115V|DOCK10_uc002voc.2_Missense_Mutation_p.L313V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1459							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTATTGTCTAACATCTGTAAG	0.383000														33			25		0	0	0.000117367	0	0
AVPR2	554	broad.mit.edu	37	X	153171107	153171107	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:153171107G>A	uc004fjh.4	+	1	319	c.147G>A	c.(145-147)gtG>gtA	p.V49V	AVPR2_uc004fjg.4_Intron|AVPR2_uc004fji.3_Silent_p.V49V	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	49					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TAGTCTTTGTGGCTGTGGCCC	0.692000														10			5		0	0	3.59834e-05	0	0
PTPRR	5801	broad.mit.edu	37	12	71094942	71094942	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:71094942G>A	uc001swi.2	-	6	1583	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L	PTPRR_uc001swh.2_Missense_Mutation_p.S145L|PTPRR_uc009zrs.3_Missense_Mutation_p.S184L|PTPRR_uc010stq.2_Missense_Mutation_p.S278L|PTPRR_uc010str.1_Missense_Mutation_p.S239L	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	390					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S389N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAGTAAATGTGAACTTGCCAC	0.458000														17			9		0	0	0.000151284	0	0
ERCC4	2072	broad.mit.edu	37	16	14041989	14041989	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:14041989C>T	uc002dce.2	+	10	2545	c.2536C>T	c.(2536-2538)Cct>Tct	p.P846S	ERCC4_uc010uyz.1_Missense_Mutation_p.P396S	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	846	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GAAGTATAATCCTGGTCCCCA	0.498000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					39			6		0	0	3.59834e-05	0	0
ATF6B	1388	broad.mit.edu	37	6	32083517	32083517	+	Nonstop_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:32083517C>A	uc003nzn.3	-	17	2144	c.2111G>T	c.(2110-2112)tGa>tTa	p.*704L	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Nonstop_Mutation_p.*701L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	0					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGCAGAGGTCAGGGATGATT	0.617000														224			46		9.82405e-12	1.6829e-10	0.000147903	1	0
RNFT2	84900	broad.mit.edu	37	12	117271725	117271725	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:117271725C>T	uc009zwn.3	+	7	1244	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	RNFT2_uc001twb.4_Silent_p.I337I|RNFT2_uc001twa.4_Silent_p.I247I|RNFT2_uc001twc.4_Silent_p.I85I	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	337						integral to membrane	zinc ion binding	p.I337I(2)|p.I247I(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGGTCCTGATCGTTCTCTACA	0.607000														11			8		0	0	0.000274275	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077497	19077497	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:19077497G>A	uc001mph.3	-	1	541	c.453C>T	c.(451-453)gtC>gtT	p.V151V	MRGPRX2_uc021qer.1_Silent_p.V151V	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	151					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCCAGAGCAGGACACACACGA	0.582000														39			18		0	0	7.07596e-05	0	0
ATP2C1	27032	broad.mit.edu	37	3	130715608	130715608	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:130715608C>T	uc011bli.2	+	22	2609	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	ATP2C1_uc011blg.2_Silent_p.I771I|ATP2C1_uc011blh.2_Silent_p.I732I|ATP2C1_uc003enk.3_Silent_p.I721I|ATP2C1_uc003enl.3_Silent_p.I737I|ATP2C1_uc003enm.3_Silent_p.I737I|ATP2C1_uc003enn.3_Silent_p.I721I|ATP2C1_uc003eno.3_Silent_p.I737I|ATP2C1_uc003enp.3_Silent_p.I737I|ATP2C1_uc003ent.3_Silent_p.I737I|ATP2C1_uc003ens.3_Silent_p.I737I|ATP2C1_uc003enu.3_Silent_p.I415I	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	737					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTTTGTGGATCAATATTATTA	0.368000									Hailey-Hailey disease					98			17		0	0	0.000422831	0	0
KIAA1324	57535	broad.mit.edu	37	1	109714493	109714493	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109714493A>G	uc021orb.1	+	3	694	c.473A>G	c.(472-474)aAg>aGg	p.K158R	KIAA1324_uc009wex.2_Missense_Mutation_p.K158R|KIAA1324_uc010ovg.2_Missense_Mutation_p.K56R|KIAA1324_uc009wey.3_Missense_Mutation_p.K158R	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	158					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CACAGGTCCAAGTGGGTTCCC	0.567000														216			20		0	0	0.000175454	0	0
ITPR1	3708	broad.mit.edu	37	3	4716865	4716865	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:4716865C>G	uc003bqc.3	+	21	3017	c.2667C>G	c.(2665-2667)atC>atG	p.I889M	ITPR1_uc021wsi.1_Missense_Mutation_p.I904M|ITPR1_uc021wsj.1_Missense_Mutation_p.I889M|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	904					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGACAACAATCTTCCCCATTA	0.418000														101			11		0	0	0.00010058	0	0
PRR5L	79899	broad.mit.edu	37	11	36453412	36453412	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:36453412C>T	uc001mwo.4	+	4	693	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	PRR5L_uc001mwp.3_Missense_Mutation_p.L102F|PRR5L_uc009ykk.3_Missense_Mutation_p.L21F|PRR5L_uc010rfc.2_Missense_Mutation_p.L102F	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	102										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAACCAGCTTCTTGCAAAAGG	0.483000														74			8		0	0	3.86212e-05	0	0
ZNF681	148213	broad.mit.edu	37	19	23927533	23927533	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:23927533T>C	uc002nrk.4	-	3	961	c.819A>G	c.(817-819)acA>acG	p.T273T	ZNF681_uc002nrl.4_Silent_p.T204T|ZNF681_uc002nrj.4_Silent_p.T204T	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGAATTATTGTATGTGTTG	0.353000														102			21		0	0	0.000375601	0	0
INSR	3643	broad.mit.edu	37	19	7170654	7170655	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:7170654_7170655GG>TT	uc002mgd.1	-	5	1485_1486	c.1376_1377CC>AA	c.(1375-1377)ccc>cAA	p.P459Q	INSR_uc002mge.1_Missense_Mutation_p.P459Q|INSR_uc002mgf.3_Missense_Mutation_p.P459Q	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	459					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCAGAGTTTGGGGTTATAGTG	0.510000														483			10		0	0	6.4e-05	0	0
PDE1A	5136	broad.mit.edu	37	2	183104841	183104841	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:183104841C>T	uc002uos.3	-	3	478	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PDE1A_uc010zfp.1_Missense_Mutation_p.E28K|PDE1A_uc002uoq.1_Missense_Mutation_p.E132K|PDE1A_uc010zfq.1_Missense_Mutation_p.E132K|PDE1A_uc002uor.3_Missense_Mutation_p.E116K|PDE1A_uc002uou.3_Missense_Mutation_p.E98K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	132					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTTACCTTTCCACAAAAATT	0.363000														80			33		0	0	0.000159656	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213673	1213673	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:1213673C>T	uc003jbw.4	+	4	815	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	253					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.F253L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCATCGTCTTCCTCTTCACGC	0.652000														24			7		0	0	0.000442599	0	0
MAP2	4133	broad.mit.edu	37	2	210518038	210518038	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:210518038C>T	uc002vde.1	+	3	392	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MAP2_uc002vdc.1_Silent_p.F48F|MAP2_uc002vdd.1_Silent_p.F48F|MAP2_uc002vdf.1_Silent_p.F48F|MAP2_uc002vdg.1_Silent_p.F48F|MAP2_uc002vdh.1_Silent_p.F48F|MAP2_uc002vdi.1_Silent_p.F48F	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	48					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCAATGGATTCCCATACAGGG	0.537000														11			8		0	0	0.000442599	0	0
JHDM1D	80853	broad.mit.edu	37	7	139838936	139838937	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:139838936_139838937GG>TT	uc003vvm.3	-	1	252_253	c.248_249CC>AA	c.(247-249)ccc>cAA	p.P83Q		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	83					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)					CTGCACAGTTGGGACAGTGATA	0.351000														255			9		0	0	6.4e-05	0	0
TRA2B	6434	broad.mit.edu	37	3	185641735	185641736	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:185641735_185641736CC>AA	uc003fpv.3	-	3	646_647	c.370_371GG>TT	c.(370-372)ggg>TTg	p.G124L	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Missense_Mutation_p.G24L	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	124	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CAAGCTCAGCCCAAATACTCCA	0.371000														486			15		0	0	6.4e-05	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907069	101907069	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:101907069G>A	uc004azc.3	+	5	1105	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K	TGFBR1_uc004azd.3_Silent_p.K266K|TGFBR1_uc004aze.3_Silent_p.K347K|TGFBR1_uc011lvc.2_Silent_p.K274K	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	343	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGGTAAAGAAGAATGGAACTT	0.368000														41			20		0	0	0.000132079	0	0
OR4A16	81327	broad.mit.edu	37	11	55111010	55111010	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:55111010C>T	uc010rie.2	+	0	334	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGAGGTCTTCCTTTTGGTGGT	0.443000														62			11		0	0	6.40141e-05	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019118	161019118	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:161019118C>A	uc001fxl.3	-	11	2039	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	ARHGAP30_uc001fxk.3_Nonsense_Mutation_p.E565*|ARHGAP30_uc001fxm.3_Nonsense_Mutation_p.E411*|ARHGAP30_uc009wtx.3_Nonsense_Mutation_p.E238*|ARHGAP30_uc001fxn.1_Nonsense_Mutation_p.E411*	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	565					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACAGAGAACTCCTCCACCTGT	0.622000														30			7		0.000274275	0.00461763	0.000274275	1	0
RBM47	54502	broad.mit.edu	37	4	40438601	40438601	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:40438601G>A	uc003gvc.2	-	4	1897	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.S358F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	396						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCGAGGTAGGAACCCCTAGG	0.502000														108			40		0	0	0.000147903	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27805505	27805506	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:27805505_27805506CC>AA	uc003szl.3	+	3	500_501	c.318_319CC>AA	c.(316-321)acccat>acAAat	p.H107N	TAX1BP1_uc011jzo.2_Missense_Mutation_p.H107N|TAX1BP1_uc003szk.3_Missense_Mutation_p.H107N|TAX1BP1_uc011jzp.2_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	107					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTTACGTTACCCATAAGGGTGA	0.351000														763			22		0	0	6.4e-05	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099170	92099170	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:92099170G>T	uc022ahe.1	-	0	526	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	176					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gagacctcatggagcccagtg	0.483000														35			14		2.32078e-09	3.96172e-08	0.000308642	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49963009	49963009	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:49963009C>T	uc002pnt.3	+	3	519	c.403C>T	c.(403-405)Cga>Tga	p.R135*	ALDH16A1_uc010yar.2_Nonsense_Mutation_p.R135*|ALDH16A1_uc010yas.2_5'UTR|ALDH16A1_uc010yat.2_Intron	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	135							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCGAGAGGTTCGAGACGGGGA	0.642000														29			11		0	0	3.86212e-05	0	0
TEX264	51368	broad.mit.edu	37	3	51737762	51737762	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:51737762G>A	uc021wyu.1	+	4	764	c.672G>A	c.(670-672)acG>acA	p.T224T	TEX264_uc021wyt.1_Silent_p.T150T|TEX264_uc010hls.3_Silent_p.T224T|TEX264_uc003dbk.4_Silent_p.T224T|TEX264_uc010hlt.3_Silent_p.T44T|TEX264_uc003dbm.4_Silent_p.T224T	NM_001243726	NP_001230655	Q9Y6I9	TX264_HUMAN	Homo sapiens testis expressed 264 (TEX264), transcript variant 4, mRNA.	224						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGAGTGACACGAGTTCTGTAA	0.607000														78			98		0	0	0.000147903	0	0
INSR	3643	broad.mit.edu	37	19	7267733	7267734	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:7267733_7267734CG>AT	uc002mgd.1	-	1	383_384	c.274_275CG>AT	c.(274-276)cgg>ATg	p.R92M	INSR_uc002mge.1_Missense_Mutation_p.R92M|INSR_uc002mgf.3_Missense_Mutation_p.R92M	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	92					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCATAGACCCGGAAGAGCAGC	0.510000														374			12		0	0	6.4e-05	0	0
PLOD3	8985	broad.mit.edu	37	7	100855624	100855624	+	Missense_Mutation	SNP	G	A	A	rs150001477	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:100855624G>A	uc003uyd.3	-	9	1493	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	346					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTGCGGCCAGGAGTCAGCGAT	0.662000														67			13		0	0	0.000219431	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556055	95556056	+	Splice_Site	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95556055_95556056CC>AA	uc003ygo.2	-	2	250	c.179_splice	c.e2+1	p.G60_splice	KIAA1429_uc003ygp.3_Splice_Site_p.G60_splice	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	60					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTGACTTACCCATATGCTCTA	0.351000														454			11		0	0	6.4e-05	0	0
CD1E	913	broad.mit.edu	37	1	158325625	158325625	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:158325625G>A	uc001fse.3	+	3	927	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CD1E_uc010pid.2_Missense_Mutation_p.E210K|CD1E_uc010pie.2_Missense_Mutation_p.E113K|CD1E_uc001fsh.3_Missense_Mutation_p.E23K|CD1E_uc001fry.3_Missense_Mutation_p.E212K|CD1E_uc001fsf.3_Missense_Mutation_p.E212K|CD1E_uc001fsg.3_Missense_Mutation_p.E23K|CD1E_uc009wsv.3_Missense_Mutation_p.E113K|CD1E_uc001fsj.3_Missense_Mutation_p.E122K|CD1E_uc001fsk.3_Missense_Mutation_p.E122K|CD1E_uc001fsa.3_Missense_Mutation_p.E23K|CD1E_uc001fsd.3_Missense_Mutation_p.E212K|CD1E_uc001frz.3_Missense_Mutation_p.E122K|CD1E_uc010pig.2_Missense_Mutation_p.E23K|CD1E_uc001fsc.3_Missense_Mutation_p.E23K|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_5'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	212	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGTGAAGCCAGAGGCCTGGCT	0.522000														10			7		0	0	0.000274275	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670672	94670672	+	Silent	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:94670672A>C	uc001dqj.4	-	6	1011	c.642T>G	c.(640-642)acT>acG	p.T214T	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.T214T	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	214					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTTGACCAAGTTTTAGCAT	0.328000														88			13		0	0	0.000219431	0	0
FAM151B	167555	broad.mit.edu	37	5	79817891	79817891	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:79817891C>T	uc003kgv.2	+	4	748	c.605C>T	c.(604-606)cCt>cTt	p.P202L	FAM151B_uc010jal.2_Non-coding_Transcript	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA.	202										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		GTAACGTTCCCTGTCAGAGCA	0.343000														72			34		0	0	0.000132358	0	0
ABCA6	23460	broad.mit.edu	37	17	67080433	67080433	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:67080433C>T	uc002jhw.1	-	33	4499	c.4324G>A	c.(4324-4326)Ggc>Agc	p.G1442S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1442	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGGTCTATGCCCGTAGATGGT	0.493000														34			17		0	0	0.000422831	0	0
TEX12	56158	broad.mit.edu	37	11	112042594	112042594	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:112042594C>T	uc001pnc.3	+	4	459	c.327C>T	c.(325-327)ttC>ttT	p.F109F	TEX12_uc001pnd.3_Silent_p.F109F	NM_031275	NP_112565	Q9BXU0	TEX12_HUMAN	Homo sapiens testis expressed 12 (TEX12), mRNA.	109										endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AAAGAGAGTTCCTGCGACAGA	0.323000														82			87		0	0	0.000147903	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413999	22413999	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:22413999G>A	uc001yuf.3	+	0	538	c.298G>A	c.(298-300)Gat>Aat	p.D100N	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CTTCTTCTGTGATGTCCGACA	0.522000														68			6		0	0	3.59834e-05	0	0
SCN1A	6323	broad.mit.edu	37	2	166848898	166848898	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:166848898G>A	uc002udo.4	-	27	5114	c.4887C>T	c.(4885-4887)ttC>ttT	p.F1629F	SCN1A_uc010fpk.3_Silent_p.F1601F|SCN1A_uc021vsb.1_Silent_p.F1618F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1629						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1618F(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAGGGGACACGAAATACTTTT	0.433000														15			21		0	0	0.000586117	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684344	75684344	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:75684344G>A	uc010oqz.1	-	15	1543	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	SLC44A5_uc001dgt.2_Missense_Mutation_p.P454S|SLC44A5_uc001dgs.2_Missense_Mutation_p.P412S|SLC44A5_uc001dgr.2_Missense_Mutation_p.P412S|SLC44A5_uc001dgu.3_Missense_Mutation_p.P454S|SLC44A5_uc010ora.2_Missense_Mutation_p.P448S|SLC44A5_uc010orb.2_Missense_Mutation_p.P324S	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	454						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGAAGGTAGGGATGTACTGA	0.413000														42			6		0	0	3.59834e-05	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136709	40136709	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:40136709G>A	uc021qgf.1	-	0	1134	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	LRRC4C_uc001mxc.1_Silent_p.S374S|LRRC4C_uc001mxd.1_Silent_p.S374S|LRRC4C_uc001mxa.1_Silent_p.S378S|LRRC4C_uc001mxb.1_Silent_p.S374S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	378	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAGGGATGTGGAGGCCCGAC	0.502000														63			15		0	0	0.000308642	0	0
SSFA2	6744	broad.mit.edu	37	2	182780931	182780931	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:182780931A>G	uc002uoi.3	+	10	2886	c.2564A>G	c.(2563-2565)gAa>gGa	p.E855G	SSFA2_uc002uoh.3_Missense_Mutation_p.E855G|SSFA2_uc002uoj.3_Missense_Mutation_p.E855G|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.E702G|SSFA2_uc002uol.3_Missense_Mutation_p.E702G|SSFA2_uc002uom.3_Missense_Mutation_p.E323G	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	855						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GAGTGGCAAGAAAGGCCCCTG	0.527000														35			14		0	0	0.000422831	0	0
MOGAT2	80168	broad.mit.edu	37	11	75431212	75431212	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:75431212C>T	uc010rru.2	+	1	267	c.267C>T	c.(265-267)atC>atT	p.I89I	MOGAT2_uc001oww.1_Silent_p.I89I|MOGAT2_uc010rrv.2_Silent_p.I7I	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	89					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.P88P(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					ATTTCCCCATCTCGGTGAGTA	0.592000														79			30		0	0	0.000279167	0	0
FAM83F	113828	broad.mit.edu	37	22	40425519	40425519	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:40425519G>A	uc003ayk.1	+	5	1548	c.1454_splice	c.e5-1	p.G485_splice	LOC100130899_uc021wqa.1_5'Flank	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	485										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGCCTCTGCAGGTAAAACAAG	0.567000														18			5		0	0	8.12818e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92258116	92258116	+	Splice_Site	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:92258116T>A	uc001pdj.4	+	2	3624	c.3607_splice	c.e2+2	p.G1203_splice		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1203	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAAAACAGGTAAGGGAATGC	0.348000										TCGA Ovarian(4;0.039)				110			23		0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9085397	9085397	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:9085397T>A	uc002mkp.3	-	0	6622	c.6418A>T	c.(6418-6420)Atc>Ttc	p.I2140F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2140	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						TCAGAGCTGATACTTGCCCCC	0.502000														50			5		0	0	0.000602214	0	0
ARSJ	79642	broad.mit.edu	37	4	114823585	114823585	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:114823585C>T	uc003ibq.1	-	1	2533	c.1645G>A	c.(1645-1647)Ggg>Agg	p.G549R	ARSJ_uc010imu.1_Missense_Mutation_p.G549R|ARSJ_uc010imv.1_Missense_Mutation_p.G377R	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	549						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCCCAGACCCCTCCATTGAGC	0.463000														22			5		0	0	3.59834e-05	0	0
SULF2	55959	broad.mit.edu	37	20	46307506	46307506	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:46307506G>A	uc002xto.3	-	7	1437	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	SULF2_uc002xtr.3_Silent_p.I369I|SULF2_uc002xtq.3_Silent_p.I369I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	369					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAATGTCCAGGATGGTGGGGG	0.617000														86			43		0	0	0.000147903	0	0
ISM2	145501	broad.mit.edu	37	14	77948741	77948741	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:77948741G>A	uc001xtz.3	-	3	971	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Silent_p.F211F	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	299						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TAGTTCCATTGAACCAGAGCG	0.557000														19			18		0	0	0.000229342	0	0
AIM1	202	broad.mit.edu	37	6	106969113	106969113	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:106969113G>A	uc003prh.3	+	1	3718	c.2806G>A	c.(2806-2808)Gat>Aat	p.D936N		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	936							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGATCTGGATTCACGAAG	0.363000														41			16		0	0	0.000308642	0	0
C12orf35	55196	broad.mit.edu	37	12	32135922	32135922	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:32135922C>T	uc001rks.3	+	3	2447	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	678										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ACCTGTCTTTCCCTGTGGAAA	0.423000														25			23		0	0	0.000375601	0	0
HYDIN	54768	broad.mit.edu	37	16	71212863	71212863	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:71212863C>T	uc002ezr.3	-	3	500	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E117K|HYDIN_uc010vmc.2_Missense_Mutation_p.E134K|HYDIN_uc010vmd.2_Missense_Mutation_p.E144K|HYDIN_uc002ezw.4_Missense_Mutation_p.E134K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	117										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGGAACTTCATAGACTTCA	0.393000														41			12		0	0	6.40141e-05	0	0
ZXDC	79364	broad.mit.edu	37	3	126180628	126180628	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:126180628G>A	uc003eiv.3	-	5	1931	c.1877C>T	c.(1876-1878)gCt>gTt	p.A626V	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.A626V	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	626	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGAGGTCAAAGCCAGTGGGTC	0.552000														83			10		0	0	0.00010058	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84700118	84700118	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:84700118G>A	uc002bjz.4	+	27	4912	c.4688G>A	c.(4687-4689)aGg>aAg	p.R1563K		NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1563						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CGTGCTGTGAGGATGCAGCAG	0.522000														214			29		0	0	0.000109025	0	0
VCAN	1462	broad.mit.edu	37	5	82815664	82815664	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:82815664C>T	uc003kii.3	+	6	1895	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.F513F|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	513	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCAAGGAATTCCCTGTAACTG	0.378000														65			20		0	0	0.000375601	0	0
BSND	7809	broad.mit.edu	37	1	55473941	55473941	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:55473941G>A	uc001cye.3	+	3	846	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	201						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AAGATGACCTGGACATGGACT	0.607000														37			4		0	0	3.59834e-05	0	0
PRB1	5542	broad.mit.edu	37	12	11506753	11506753	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:11506753C>T	uc001qzw.1	-	2	321	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PRB1_uc001qzu.1_Missense_Mutation_p.G95E|PRB1_uc001qzv.1_Missense_Mutation_p.G95E	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	95	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGTTTTCCTGGAGGAGA	0.607000														181			83		0	0	0.000147903	0	0
PIK3CB	5291	broad.mit.edu	37	3	138409866	138409867	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:138409866_138409867CC>AA	uc011bmq.2	-	12	2011_2012	c.2011_2012GG>TT	c.(2011-2013)ggg>TTg	p.G671L	PIK3CB_uc011bmn.2_Missense_Mutation_p.G183L|PIK3CB_uc011bmo.2_Missense_Mutation_p.G117L|PIK3CB_uc011bmp.2_Missense_Mutation_p.G258L	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	671	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGAAACTGCCCTATCCTCCGA	0.342000														428			11		0	0	6.4e-05	0	0
FAM91A1	157769	broad.mit.edu	37	8	124787428	124787428	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:124787428C>T	uc003yqv.3	+	2	260	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	FAM91A1_uc011lik.1_Silent_p.L67L|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	67										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)			CTATGAGGAACTGCTAAAGTA	0.363000														68			8		0	0	0.000157383	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374352	138374353	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:138374352_138374353CC>AA	uc011bmq.2	-	21	3091_3092	c.3091_3092GG>TT	c.(3091-3093)ggg>TTg	p.G1031L	PIK3CB_uc011bmn.2_Missense_Mutation_p.G543L|PIK3CB_uc011bmo.2_Missense_Mutation_p.G482L|PIK3CB_uc011bmp.2_Missense_Mutation_p.G618L|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1031	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTCACTCTTCCCTAATGCAAGA	0.406000														403			12		0	0	6.4e-05	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768485	127768485	+	Missense_Mutation	SNP	C	T	T	rs142527882		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:127768485C>T	uc011ebs.2	-	4	1315	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	KIAA0408_uc003qbc.3_Missense_Mutation_p.E327K|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.E210K	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	327							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GTTTTCCCTTCATTTGGATAC	0.418000														17			12		0	0	0.00010058	0	0
ARAP3	64411	broad.mit.edu	37	5	141044616	141044616	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:141044616G>A	uc003llm.3	-	18	2751	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Silent_p.F553F|ARAP3_uc003lln.3_Silent_p.F793F	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	891					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCCATGCCGTGAAGTCCAGCC	0.652000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			5		0	0	0.000602214	0	0
HEMGN	55363	broad.mit.edu	37	9	100693459	100693459	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:100693459C>T	uc004axy.3	-	2	326	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	HEMGN_uc004axz.3_Missense_Mutation_p.R73Q	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	73	Necessary for nuclear localization.				cell differentiation|multicellular organismal development			p.R73Q(2)|p.R73*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTGCCTCTTCGATTTCCTTT	0.413000														65			54		0	0	0.000147903	0	0
ZEB1	6935	broad.mit.edu	37	10	31803585	31803585	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:31803585A>T	uc001ivs.4	+	5	802	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	ZEB1_uc001ivr.4_Nonsense_Mutation_p.K29*|ZEB1_uc010qef.2_Nonsense_Mutation_p.K29*|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Nonsense_Mutation_p.K173*|ZEB1_uc010qeg.1_Nonsense_Mutation_p.K106*|ZEB1_uc009xlk.1_Nonsense_Mutation_p.K29*|ZEB1_uc001ivu.4_Nonsense_Mutation_p.K248*|ZEB1_uc010qeh.2_Nonsense_Mutation_p.K180*|ZEB1_uc001ivv.4_Nonsense_Mutation_p.K227*|ZEB1_uc001ivt.4_Nonsense_Mutation_p.K29*|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Nonsense_Mutation_p.K230*|ZEB1_uc009xlp.3_Nonsense_Mutation_p.K231*	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	247					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAGTGTGGAAAAGCTTTCAA	0.328000														51			15		0	0	9.7654e-05	0	0
MYO15A	51168	broad.mit.edu	37	17	18051478	18051478	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:18051478G>A	uc021trm.1	+	29	6864	c.6645G>A	c.(6643-6645)gcG>gcA	p.A2215A	MYO15A_uc021trl.1_Silent_p.A2213A	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2215	MyTH4 1.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGTGGACAGCGACCTATGAGA	0.667000														13			14		0	0	0.000308642	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873285	173873285	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:173873285C>T	uc003isv.3	+	9	1983	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	416						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGGGACATCTCTGCCCAGAAG	0.567000														31			5		0	0	3.59834e-05	0	0
ALB	213	broad.mit.edu	37	4	74277830	74277830	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:74277830T>G	uc003hgs.4	+	6	904	c.831T>G	c.(829-831)tgT>tgG	p.C277W	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.C85W|ALB_uc011cbf.2_Missense_Mutation_p.C167W	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	277	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGCTTGAATGTGCTGATGACA	0.453000														85			16		0	0	0.000566183	0	0
NR2F1	7025	broad.mit.edu	37	5	92924011	92924011	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:92924011C>T	uc003kkj.3	+	1	2539	c.852C>T	c.(850-852)gcC>gcT	p.A284A	NR2F1_uc021ybj.1_Silent_p.A233A|NR2F1_uc021ybk.1_Silent_p.A259A	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	284					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCCTGCATGCCTCGCCCATGT	0.667000														38			9		0	0	0.00010058	0	0
HTR2C	3358	broad.mit.edu	37	X	114141205	114141205	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:114141205G>A	uc004epu.1	+	5	1332	c.604G>A	c.(604-606)Gtg>Atg	p.V202M	HTR2C_uc010nqc.1_Missense_Mutation_p.V202M|HTR2C_uc004epv.1_Missense_Mutation_p.R170H	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	202					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAAGGTGTTCGTGAACAACAC	0.448000														31			18		0	0	0.000132079	0	0
OLFM3	118427	broad.mit.edu	37	1	102312496	102312496	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:102312496G>A	uc001duf.2	-	0	105	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	12						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ATGGTACTAAGCACAGCGCCA	0.532000														61			14		0	0	7.07596e-05	0	0
PLCB4	5332	broad.mit.edu	37	20	9424845	9424845	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:9424845G>A	uc021wam.1	+	27	2814	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K	PLCB4_uc010gbw.1_Silent_p.K933K|PLCB4_uc010gbx.3_Silent_p.K945K|PLCB4_uc021wal.1_Silent_p.K933K|PLCB4_uc002wnh.3_Silent_p.K780K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	933					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.K933N(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCATTTAAAGAAACAGCAGA	0.318000														74			7		0	0	0.000274275	0	0
ADRB2	154	broad.mit.edu	37	5	148206853	148206853	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:148206853C>T	uc003lpr.2	+	0	698	c.459C>T	c.(457-459)atC>atT	p.I153I	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	153					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CCCGGGTGATCATTCTGATGG	0.532000														70			55		0	0	0.000147903	0	0
LRIG1	26018	broad.mit.edu	37	3	66431917	66431917	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:66431917C>T	uc003dmx.3	-	16	2770	c.2756G>A	c.(2755-2757)gGg>gAg	p.G919E	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.G539E|LRIG1_uc003dmw.3_Missense_Mutation_p.G585E|LRIG1_uc010hnz.3_Missense_Mutation_p.G635E|LRIG1_uc010hoa.3_Missense_Mutation_p.G896E	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	919						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTATGTGGCCCAGGTGTCCC	0.507000														61			11		0	0	0.000151284	0	0
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:105463544C>T	uc003yly.4	-	1	482	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522000														39			17		0	0	0.000132079	0	0
C2orf65	130951	broad.mit.edu	37	2	74834339	74834339	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:74834339C>T	uc002smy.3	-	3	555	c.438G>A	c.(436-438)ctG>ctA	p.L146L	C2orf65_uc010ysa.2_Silent_p.L146L|C2orf65_uc002smz.2_Silent_p.L146L	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	146					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						GCTGAGAAGTCAGAATAGTAA	0.433000														54			23		0	0	0.000117367	0	0
AKAP13	11214	broad.mit.edu	37	15	86124251	86124251	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:86124251G>A	uc002blv.1	+	6	3122	c.2952G>A	c.(2950-2952)ccG>ccA	p.P984P	AKAP13_uc002blt.1_Silent_p.P984P|AKAP13_uc002blu.1_Silent_p.P984P|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	984					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTAATTCACCGGGTGCATCCT	0.488000														115			11		0	0	6.40141e-05	0	0
SPDEF	25803	broad.mit.edu	37	6	34512073	34512073	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:34512073C>T	uc003ojq.2	-	1	594	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	SPDEF_uc011dsq.2_Missense_Mutation_p.G54S	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	54					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q53H(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GCGGACAGGCCCTGCTCGGGC	0.682000														50			6		0	0	0.000442599	0	0
BAG6	7917	broad.mit.edu	37	6	31617355	31617356	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31617355_31617356GG>TT	uc003nvg.4	-	2	471_472	c.157_158CC>AA	c.(157-159)cca>AAa	p.P53K	BAG6_uc003nvf.4_Missense_Mutation_p.P53K|BAG6_uc003nvi.4_Missense_Mutation_p.P53K|BAG6_uc003nvh.4_Missense_Mutation_p.P53K|BAG6_uc011dnw.2_Missense_Mutation_p.P53K|BAG6_uc011dnx.2_Missense_Mutation_p.P53K|APOM_uc003nvk.3_5'Flank	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	53	Ubiquitin-like.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTTTTCAGATGGGATGCTGACA	0.460000														707			15		0	0	6.4e-05	0	0
KLHL1	57626	broad.mit.edu	37	13	70314608	70314608	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:70314608C>T	uc001vip.3	-	7	2514	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	KLHL1_uc010thm.2_Missense_Mutation_p.D513N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	574					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTGTGGATCCCACCTTTCC	0.413000														27			6		0	0	3.59834e-05	0	0
BCL9	607	broad.mit.edu	37	1	147091993	147091993	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:147091993C>T	uc001epq.3	+	7	2772	c.2032C>T	c.(2032-2034)Cct>Tct	p.P678S	BCL9_uc010ozr.1_Missense_Mutation_p.P604S	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	678	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCATTTTCCCTCGAATACC	0.562000			T	"""IGH@, IGL@"""	B-ALL									25			8		0	0	0.000442599	0	0
FRMD7	90167	broad.mit.edu	37	X	131228143	131228143	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:131228143C>T	uc004ewn.3	-	4	487	c.309G>A	c.(307-309)aaG>aaA	p.K103K	FRMD7_uc022cdy.1_5'UTR|FRMD7_uc011muy.2_Silent_p.K88K	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	103	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCAAATCCTTCTTTATTTGAA	0.388000														49			16		0	0	7.07596e-05	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203831820	203831821	+	Splice_Site	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:203831820_203831821CG>AT	uc002uzo.2	+	9	1233	c.953_splice	c.e9+1	p.R318_splice	ALS2CR8_uc010zhy.1_Splice_Site|ALS2CR8_uc010zhz.1_Splice_Site|ALS2CR8_uc010ftu.1_Splice_Site|ALS2CR8_uc010zia.1_Splice_Site_p.R242_splice|ALS2CR8_uc010zib.1_Splice_Site_p.R242_splice|ALS2CR8_uc010zic.1_Splice_Site_p.R230_splice|ALS2CR8_uc002uzp.2_Splice_Site_p.R318_splice	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	318										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						TTGTCCAGCTCGGTAAGCTTTA	0.342000														269			8		0	0	6.4e-05	0	0
MAPK10	5602	broad.mit.edu	37	4	87115540	87115540	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:87115540G>A	uc003hps.3	-	2	701	c.15C>T	c.(13-15)ttC>ttT	p.F5F	MAPK10_uc010ikg.3_5'UTR|MAPK10_uc003hpr.3_5'UTR|MAPK10_uc003hpt.3_Silent_p.F5F|MAPK10_uc003hpu.3_Silent_p.F5F|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|BC038746_uc003hpw.3_Intron	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	5					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGTAGTATAAGAAATGGAGGC	0.318000														154			48		0	0	0.000147903	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285833	248285833	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:248285833C>T	uc001idy.1	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		AGGTTATTTTCATTTGCTCTA	0.423000														53			7		0	0	8.12818e-05	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441591	1441591	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:1441591G>A	uc003jck.3	-	2	427	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	101					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCAGGTAGGGGACCAGGAAG	0.597000														37			6		0	0	0.000274275	0	0
HOXB1	3211	broad.mit.edu	37	17	46607066	46607066	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:46607066C>T	uc002ink.1	-	1	755	c.749G>A	c.(748-750)tGg>tAg	p.W250*	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	250						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCTGGAACCAAATCTTGAC	0.592000														58			92		0	0	0.000147903	0	0
CNTN5	53942	broad.mit.edu	37	11	100169974	100169974	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:100169974G>A	uc001pga.3	+	19	2970	c.2466G>A	c.(2464-2466)aaG>aaA	p.K822K	CNTN5_uc001pfz.3_Silent_p.K822K|CNTN5_uc021qpb.1_Silent_p.K822K|CNTN5_uc021qpc.1_Silent_p.K748K|CNTN5_uc010ruk.2_Silent_p.K93K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	822	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTGGCTGGAAGGAAAAAATGG	0.408000														6			4		0	0	0.00024832	0	0
NOTCH2	4853	broad.mit.edu	37	1	120459289	120459290	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:120459289_120459290CG>AT	uc001eik.3	-	33	6352_6353	c.6055_6056CG>AT	c.(6055-6057)cgg>ATg	p.R2019M		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2019					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCCCCTCCCGGGCAGCAAGA	0.465000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					258			8		0	0	6.4e-05	0	0
ERO1L	30001	broad.mit.edu	37	14	53112975	53112975	+	Silent	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:53112975A>G	uc001wzv.3	-	14	1463	c.1243T>C	c.(1243-1245)Tta>Cta	p.L415L		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	415					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TCAGAAAATAAGATCTTCAGA	0.328000														131			5		0	0	0.000602214	0	0
PTCH2	8643	broad.mit.edu	37	1	45292598	45292598	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:45292598C>T	uc010olf.2	-	16	2683	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N	PTCH2_uc021omv.1_Missense_Mutation_p.D891N|PTCH2_uc010olg.2_Missense_Mutation_p.D589N	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	891					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCGTGGTGTCGTATTTGTCG	0.642000									Basal Cell Nevus syndrome					116			40		0	0	0.000147903	0	0
PCIF1	63935	broad.mit.edu	37	20	44567907	44567907	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:44567907C>T	uc002xqs.3	+	3	492	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	60	WW.					nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGAGAATCGTCCCTACTACTT	0.627000														29			25		0	0	0.000147802	0	0
ATP2B1	490	broad.mit.edu	37	12	90024357	90024357	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:90024357C>G	uc001tbh.3	-	4	1034	c.853G>C	c.(853-855)Gga>Cga	p.G285R	ATP2B1_uc001tbg.3_Missense_Mutation_p.G285R	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	285					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAGATAATTCCAGTTTGAGAA	0.323000														59			10		0	0	6.40141e-05	0	0
FCRL1	115350	broad.mit.edu	37	1	157773804	157773804	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:157773804G>A	uc001frg.3	-	2	263	c.150C>T	c.(148-150)ttC>ttT	p.F50F	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.F50F|FCRL1_uc001fri.3_Silent_p.F50F|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	50	Ig-like C2-type 1.					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)			AGCAGAACTGGAACTGGGCAT	0.567000														31			13		0	0	0.00010058	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74541683	74541683	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:74541683G>A	uc001xpo.3	-	1	185	c.86C>T	c.(85-87)tCa>tTa	p.S29L	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.S29L|ALDH6A1_uc010asa.3_5'UTR	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	29						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGAAGATGCTGAATACCAGGT	0.368000														53			8		0	0	0.00010058	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27788289	27788290	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:27788289_27788290GG>TT	uc003szl.3	+	1	328_329	c.146_147GG>TT	c.(145-147)tgg>tTT	p.W49F	TAX1BP1_uc011jzo.2_Missense_Mutation_p.W49F|TAX1BP1_uc003szk.3_Missense_Mutation_p.W49F|TAX1BP1_uc011jzp.2_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	49					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CCAAAAGATTGGGTTGGTATAT	0.342000														498			12		0	0	6.4e-05	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529836	5529836	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:5529836C>T	uc021qcw.1	-	0	953	c.953G>A	c.(952-954)gGa>gAa	p.G318E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.G318E	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	318										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTGCCTTCCTTGCCTGCT	0.502000														33			9		0	0	3.86212e-05	0	0
C11orf85	283129	broad.mit.edu	37	11	64726865	64726865	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:64726865G>A	uc001ocb.1	-	1	77	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Missense_Mutation_p.P5S	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	5										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TAGGTAAAGGGTTTTAAACTC	0.373000														72			25		0	0	0.000184323	0	0
GPR149	344758	broad.mit.edu	37	3	154055716	154055716	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:154055716C>T	uc003faa.3	-	3	2068	c.1968G>A	c.(1966-1968)agG>agA	p.R656R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	656						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGTTTTCTTTCCTGGAGTAAC	0.418000														74			24		0	0	0.000295444	0	0
TONSL	4796	broad.mit.edu	37	8	145659433	145659433	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:145659433G>A	uc011llg.2	-	20	3330	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L	AK298596_uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	1105					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GATTGGAGGAGAGGTCAAGGA	0.677000														28			15		0	0	0.000566183	0	0
ADAM21	8747	broad.mit.edu	37	14	70924317	70924317	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:70924317C>T	uc021rvq.1	+	0	101	c.101C>T	c.(100-102)tCc>tTc	p.S34F	ADAM21_uc001xmd.3_Missense_Mutation_p.S34F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	34					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTGGGCCCTCCCAGCATTTC	0.547000														27			22		0	0	0.000295444	0	0
POTEE	445582	broad.mit.edu	37	2	132021015	132021015	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:132021015G>A	uc002tsn.2	+	14	2039	c.1987G>A	c.(1987-1989)Gac>Aac	p.D663N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.D263N|POTEE_uc002tsl.2_Missense_Mutation_p.D245N|POTEE_uc010fmy.1_Missense_Mutation_p.D127N	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	663							ATP binding										ACTGGAGCTAGACACAATGAA	0.338000														26			8		0	0	0.000219431	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418687	19418687	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:19418687A>G	uc001reb.3	+	7	722	c.614A>G	c.(613-615)gAg>gGg	p.E205G	PLEKHA5_uc010sie.2_Missense_Mutation_p.E205G|PLEKHA5_uc001rea.3_Missense_Mutation_p.E205G|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Missense_Mutation_p.E97G|PLEKHA5_uc010sih.1_Missense_Mutation_p.E97G|PLEKHA5_uc021qvy.1_Missense_Mutation_p.E97G	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	205	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTCTTAGATGAGAAAGAAGAG	0.318000														56			56		0	0	0.000147903	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692855	23692855	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:23692855C>T	uc003zpu.3	-	6	1055	c.780G>A	c.(778-780)atG>atA	p.M260I	ELAVL2_uc003zps.3_Missense_Mutation_p.M247I|ELAVL2_uc003zpt.3_Missense_Mutation_p.M247I|ELAVL2_uc003zpv.3_Missense_Mutation_p.M260I|ELAVL2_uc003zpw.3_Missense_Mutation_p.M247I	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	260					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G259*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCAAACTGGTCATTCCGTCAA	0.433000														28			9		0	0	0.000442599	0	0
TBX18	9096	broad.mit.edu	37	6	85446592	85446592	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:85446592C>T	uc003pkl.1	-	7	1635	c.1635G>A	c.(1633-1635)gaG>gaA	p.E545E	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	545					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AAACAATTTTCTCAGGACTGG	0.498000														48			17		0	0	0.000229342	0	0
SCN11A	11280	broad.mit.edu	37	3	38988284	38988284	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:38988284G>A	uc021wvy.1	-	1	581	c.382C>T	c.(382-384)Cat>Tat	p.H128Y		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	128					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.H128N(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGATATGAATGGACTGAGACT	0.408000														134			25		0	0	0.000147802	0	0
DPY19L4	286148	broad.mit.edu	37	8	95768311	95768312	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95768311_95768312GG>TT	uc003ygx.2	+	6	783_784	c.659_660GG>TT	c.(658-660)tgg>tTT	p.W220F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	220						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AGAGAAAACTGGGCACTACCAT	0.317000														821			21		0	0	6.4e-05	0	0
CHAD	1101	broad.mit.edu	37	17	48545637	48545637	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:48545637C>T	uc010dbr.3	-	0	591	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Missense_Mutation_p.E180K|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	180					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AACGCGTTTTCCGACAGGTAG	0.617000														48			47		0	0	0.000147903	0	0
CSMD2	114784	broad.mit.edu	37	1	34164364	34164364	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:34164364G>A	uc001bxm.1	-	23	4091	c.3914C>T	c.(3913-3915)cCc>cTc	p.P1305L	CSMD2_uc001bxn.1_Missense_Mutation_p.P1265L|CSMD2_uc001bxo.1_Missense_Mutation_p.P178L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1265	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACACAGGTGGGCAGAGGCCG	0.602000														68			7		0	0	0.000274275	0	0
NLRC4	58484	broad.mit.edu	37	2	32476336	32476336	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:32476336G>A	uc002roi.3	-	3	858	c.597C>T	c.(595-597)ttC>ttT	p.F199F	NLRC4_uc021vfq.1_Silent_p.F199F|NLRC4_uc002roj.2_Silent_p.F199F|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	199	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGAAGAAGACGAATTTGAACT	0.517000														36			16		0	0	0.000422831	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74537937	74537937	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:74537937G>A	uc001xpo.3	-	5	790	c.691C>T	c.(691-693)Cct>Tct	p.P231S	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.P218S|ALDH6A1_uc010asa.3_Missense_Mutation_p.P76S	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	231						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	p.P231T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTCCATCAGGGGCACCAGAA	0.458000														96			11		0	0	6.40141e-05	0	0
KLHL17	339451	broad.mit.edu	37	1	898107	898107	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:898107C>T	uc001aca.2	+	5	959	c.852C>T	c.(850-852)ccC>ccT	p.P284P	KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_Silent_p.P7P	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	284	BACK.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCGGCTGCCCTTGCTGAGCC	0.657000														21			5		0	0	0.000602214	0	0
ISG20L2	81875	broad.mit.edu	37	1	156693162	156693162	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:156693162G>A	uc001fps.1	-	2	1302	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	ISG20L2_uc001fpt.1_Silent_p.A347A	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	347	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGATTCCGGGCTAGGTGCT	0.567000														59			21		0	0	0.000229342	0	0
MYH15	22989	broad.mit.edu	37	3	108183613	108183613	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:108183613C>T	uc003dxa.1	-	15	1720	c.1663G>A	c.(1663-1665)Gct>Act	p.A555T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	555	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTCTGTAGCCTTAGGAAAC	0.423000														48			5		0	0	3.59834e-05	0	0
ODZ1	10178	broad.mit.edu	37	X	123525962	123525962	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:123525962C>T	uc010nqy.3	-	27	5692	c.5628G>A	c.(5626-5628)ggG>ggA	p.G1876G	ODZ1_uc011muj.2_Silent_p.G1875G|ODZ1_uc004euj.3_Silent_p.G1869G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1869					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AAATAATTTTCCCACTCTGGT	0.363000														35			6		0	0	8.12818e-05	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616627	77616627	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:77616627A>C	uc003yau.2	+	1	691	c.304A>C	c.(304-306)Aat>Cat	p.N102H	ZFHX4_uc003yat.1_Missense_Mutation_p.N102H|ZFHX4_uc003yaw.1_Missense_Mutation_p.N102H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	102						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACTGCCCTAATGCCCGCCT	0.507000										HNSCC(33;0.089)				212			19		0	0	0.000375601	0	0
PRC1	9055	broad.mit.edu	37	15	91525163	91525164	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:91525163_91525164GG>TT	uc002bqm.3	-	3	472_473	c.315_316CC>AA	c.(313-318)acccaa>acAAaa	p.Q106K	PRC1_uc002bqn.3_Missense_Mutation_p.Q106K|PRC1_uc002bqo.3_Missense_Mutation_p.Q106K|PRC1_uc010uqs.2_Missense_Mutation_p.Q65K|PRC1_uc010uqt.1_Missense_Mutation_p.Q54K	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	106	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AATTCCACTTGGGTGCGCAAAT	0.411000														777			14		0	0	6.4e-05	0	0
STRC	161497	broad.mit.edu	37	15	43893105	43893105	+	Silent	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:43893105T>G	uc001zsf.3	-	24	4887	c.4809A>C	c.(4807-4809)ccA>ccC	p.P1603P	STRC_uc010bdl.3_Silent_p.P830P|STRC_uc001zse.3_Silent_p.P121P	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1603					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGAGCTCCTCTGGCCGCAGTC	0.557000														20			29		0	0	0.000191422	0	0
LYVE1	10894	broad.mit.edu	37	11	10585914	10585914	+	Silent	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:10585914G>T	uc001miv.2	-	1	379	c.93C>A	c.(91-93)tcC>tcA	p.S31S	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	31					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACACCTGGATGGAAAGCTCTG	0.507000														33			5		2.7689e-08	4.71845e-07	8.12818e-05	1	0
RREB1	6239	broad.mit.edu	37	6	7231105	7231105	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:7231105C>T	uc003mxb.3	+	9	3265	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	RREB1_uc021yky.1_Silent_p.L925L|RREB1_uc003mxc.3_Silent_p.L925L|RREB1_uc010jnx.3_Silent_p.L925L|RREB1_uc021ykz.1_Silent_p.L925L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	925					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTTCTTCCCTGGTCCCCTA	0.562000														19			7		0	0	0.000157383	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTTTCTTCGTTTTCACCT	0.398000														71			26		0	0	0.000339439	0	0
DPY19L4	286148	broad.mit.edu	37	8	95778849	95778850	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95778849_95778850CC>AA	uc003ygx.2	+	10	1235_1236	c.1111_1112CC>AA	c.(1111-1113)cca>AAa	p.P371K		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	371						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GATGTTTGTCCCACACAAAGAA	0.322000														687			15		0	0	6.4e-05	0	0
WFS1	7466	broad.mit.edu	37	4	6303097	6303098	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:6303097_6303098GG>TT	uc003giy.3	+	7	1741_1742	c.1575_1576GG>TT	c.(1573-1578)aagggc>aaTTgc	p.525_526KG>NC	WFS1_uc003gix.3_Missense_Mutation_p.525_526KG>NC|WFS1_uc003giz.3_Missense_Mutation_p.343_344KG>NC	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	525					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding	p.G526F(2)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGAATTTCAAGGGCACCTACTG	0.604000														602			14		0	0	6.4e-05	0	0
KCNT2	343450	broad.mit.edu	37	1	196295984	196295984	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:196295984G>A	uc001gtd.1	-	18	2199	c.2139C>T	c.(2137-2139)gcC>gcT	p.A713A	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Silent_p.A663A|KCNT2_uc001gtf.1_Silent_p.A713A|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.A713A|KCNT2_uc001gth.1_Silent_p.A234A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	713						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGAATCCATAGGCTTTTGCAT	0.318000														50			9		0	0	3.86212e-05	0	0
ANKLE2	23141	broad.mit.edu	37	12	133324813	133324813	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:133324813C>T	uc001ukx.2	-	3	1019	c.952G>A	c.(952-954)Gag>Aag	p.E318K	ANKLE2_uc001uky.3_Missense_Mutation_p.E256K	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	318						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTCCCTTCTCCACAGCTTTC	0.532000														14			24		0	0	0.00047179	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691116	18691116	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:18691116C>T	uc001rdt.3	+	23	3343	c.3227C>T	c.(3226-3228)tCa>tTa	p.S1076L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S1117L|PIK3C2G_uc010sic.2_Missense_Mutation_p.S895L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1076	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTTTACTTCAGAGATGGAA	0.378000														8			6		0	0	3.59834e-05	0	0
TFAP4	7023	broad.mit.edu	37	16	4311931	4311932	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:4311931_4311932GG>AA	uc010uxg.2	-	3	627_628	c.373_374CC>TT	c.(373-375)ccc>TTc	p.P125F		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	125					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCGTCGCTTGGGGGACGAGCCG	0.653000											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			5		0	0	6.4e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10401063	10401064	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:10401063_10401064CC>TT	uc002gmo.3	-	30	4446_4447	c.4352_4353GG>AA	c.(4351-4353)agg>aAA	p.R1451K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1451				R -> T (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TATCAAAGTTCCTTTGCTTTTT	0.446000														53			22		0	0	6.4e-05	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62864647	62864648	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:62864647_62864648CC>AA	uc002jey.2	-	8	3601_3602	c.2985_2986GG>TT	c.(2983-2988)atggga>atTTga	p.995_996MG>I*	LRRC37A3_uc010wqg.1_Nonsense_Mutation_p.113_114MG>I*|LRRC37A3_uc010wqf.1_Nonsense_Mutation_p.33_34MG>I*|LRRC37A3_uc010dek.1_Nonsense_Mutation_p.1_2MG>I*	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	995						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGCGTTGTTCCCATGTCTCTGA	0.347000														175			9		0	0	6.4e-05	0	0
SCAF1	58506	broad.mit.edu	37	19	50150056	50150056	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:50150056C>T	uc002poq.3	+	5	571	c.447C>T	c.(445-447)ccC>ccT	p.P149P		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	149					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCTGCTGCCCCGTCTCAGGG	0.642000														12			6		0	0	0.000157383	0	0
PHF8	23133	broad.mit.edu	37	X	54011586	54011586	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:54011586G>A	uc004dsu.3	-	17	2558	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	PHF8_uc004dsv.3_Missense_Mutation_p.S601L|PHF8_uc004dst.3_Missense_Mutation_p.S735L|PHF8_uc004dsw.3_Missense_Mutation_p.S634L|PHF8_uc004dsx.3_Missense_Mutation_p.S499L|PHF8_uc004dsy.3_Missense_Mutation_p.S718L	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	771	Ser-rich.				G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|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			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CGGTGAGGACGATGAGGACTG	0.612000														2			4		0	0	0.000602214	0	0
ZFAT	57623	broad.mit.edu	37	8	135614365	135614365	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:135614365C>T	uc003yup.3	-	5	1783	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	ZFAT_uc003yun.3_Missense_Mutation_p.E521K|ZFAT_uc003yuo.3_Missense_Mutation_p.E521K|ZFAT_uc010meh.3_Missense_Mutation_p.E521K|ZFAT_uc010mej.3_Missense_Mutation_p.E471K|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.E521K|ZFAT_uc003yur.3_Missense_Mutation_p.E521K	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CAGGCCTCTTCCTTGAGTGCA	0.652000														10			5		0	0	3.59834e-05	0	0
RP1L1	94137	broad.mit.edu	37	8	10470537	10470537	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:10470537G>A	uc003wtc.3	-	3	1300	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	357					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCCAGAACGGGGTCTTCCC	0.677000														41			16		0	0	0.000422831	0	0
DENND2C	163259	broad.mit.edu	37	1	115168587	115168587	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:115168587G>A	uc001efd.1	-	3	721	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R7C	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	7										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		ACAGTAGTACGAGAAAAACCA	0.358000														56			15		0	0	7.07596e-05	0	0
TULP3	7289	broad.mit.edu	37	12	3030044	3030044	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:3030044C>T	uc001qlj.2	+	2	290	c.209C>T	c.(208-210)cCc>cTc	p.P70L	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_Intron|TULP3_uc010seh.1_Missense_Mutation_p.P70L|TULP3_uc010sei.1_Intron	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	70					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAGCAGACTCCCTTGGTGAAC	0.493000														23			39		0	0	0.000437636	0	0
DOCK8	81704	broad.mit.edu	37	9	382626	382626	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:382626G>A	uc003zgf.2	+	21	2831	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	DOCK8_uc022bcu.1_Missense_Mutation_p.D839N|DOCK8_uc010mgv.3_Missense_Mutation_p.D839N|DOCK8_uc010mgu.3_Missense_Mutation_p.D209N|DOCK8_uc010mgw.2_Missense_Mutation_p.D209N|DOCK8_uc003zgk.2_Missense_Mutation_p.D365N	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	907					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGTAACCCAGACCTCGCGGG	0.562000														29			9		0	0	0.000442599	0	0
SPN	6693	broad.mit.edu	37	16	29675698	29675698	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:29675698G>A	uc021tgd.1	+	0	649	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.G217R|SPN_uc002dtn.3_Missense_Mutation_p.G217R	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	217					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GCCCTCCAGCGGGGCCAGTGG	0.577000														45			33		0	0	0.000109025	0	0
ANK2	287	broad.mit.edu	37	4	114279405	114279405	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:114279405G>A	uc003ibe.4	+	37	9731	c.9631G>A	c.(9631-9633)Gaa>Aaa	p.E3211K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E3226K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3178					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3210A(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCCTCCACTGAAACACCTAC	0.488000														18			6		0	0	8.12818e-05	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	G	G	rs58074988		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:12887606C>G	uc001auk.2	-	2	447	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	84								p.C84S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000														341			8		0	0	3.86212e-05	0	0
LAMP1	3916	broad.mit.edu	37	13	113960916	113960916	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:113960916C>T	uc001vtm.1	+	1	459	c.178C>T	c.(178-180)Cct>Tct	p.P60S	LAMP1_uc010tka.1_Missense_Mutation_p.P60S	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	60	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAAGAGTGGCCCTAAGGTAGG	0.468000														31			6		0	0	8.12818e-05	0	0
E2F1	1869	broad.mit.edu	37	20	32268156	32268156	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:32268156C>T	uc002wzu.4	-	1	468	c.328G>A	c.(328-330)Ggc>Agc	p.G110S		NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	110				KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150).	G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CGGCCTCTGCCCCGAGCTGGC	0.602000														29			11		0	0	0.00010058	0	0
CHEK2	11200	broad.mit.edu	37	22	29130443	29130443	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:29130443G>A	uc003adu.1	-	1	339	c.267C>T	c.(265-267)acC>acT	p.T89T	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.T89T|CHEK2_uc010gvi.1_Silent_p.T89T|CHEK2_uc003adt.1_Silent_p.T89T|CHEK2_uc003adv.1_Silent_p.T89T|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	89					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGGGGGCAGGGGTAGGCTCCT	0.493000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						25			16		0	0	0.000308642	0	0
LOC729862	729862	broad.mit.edu	37	5	28927046	28927046	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:28927046C>T	uc003jgz.1	+	0		c.70C>T								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		AGCCAAGACTCTGTCCTGCAA	0.577000														14			4		0	0	0.00024832	0	0
SYCP2	10388	broad.mit.edu	37	20	58441356	58441356	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:58441356C>A	uc002yaz.3	-	39	4451	c.4312G>T	c.(4312-4314)Gaa>Taa	p.E1438*		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1438					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACCACAAATTCCTTTTCCAAA	0.264000														38			21		5.35356e-11	9.16282e-10	0.000375601	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43931179	43931180	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:43931179_43931180GG>TT	uc010yny.2	+	8	1793_1794	c.1710_1711GG>TT	c.(1708-1713)atggag>atTTag	p.570_571ME>I*	PLEKHH2_uc002rte.3_Nonsense_Mutation_p.570_571ME>I*|PLEKHH2_uc002rtf.3_Nonsense_Mutation_p.569_570ME>I*	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	570						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTTCAATATGGAGAGTGTTAA	0.386000														503			14		0	0	6.4e-05	0	0
FADS2	9415	broad.mit.edu	37	11	61615704	61615704	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:61615704C>T	uc001nsl.1	+	4	842	c.692C>T	c.(691-693)cCc>cTc	p.P231L	FADS2_uc001nsj.2_Missense_Mutation_p.P209L|FADS2_uc010rlo.1_Missense_Mutation_p.P200L|FADS2_uc001nsk.3_Missense_Mutation_p.P231L	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	231					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACAAGGATCCCGATGTGAAC	0.567000														86			19		0	0	0.000175454	0	0
TRIM22	10346	broad.mit.edu	37	11	5730807	5730807	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:5730807C>T	uc001mbr.3	+	7	1805	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Nonsense_Mutation_p.R304*|TRIM22_uc009yes.3_Nonsense_Mutation_p.R472*|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	476	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCGCTTTTCTCGACCTGCTTA	0.473000														140			16		0	0	9.7654e-05	0	0
OR10A4	283297	broad.mit.edu	37	11	6898300	6898300	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:6898300C>T	uc010rat.2	+	0	445	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I140K(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCACATATCCTGTGCCCAG	0.562000														16			8		0	0	0.000442599	0	0
DISP1	84976	broad.mit.edu	37	1	223176194	223176195	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:223176194_223176195CG>AT	uc001hnu.2	+	9	1781_1782	c.1455_1456CG>AT	c.(1453-1458)accggg>acATgg	p.G486W		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	486	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTACCATCACCGGGATTGAGTT	0.426000														505			11		0	0	6.4e-05	0	0
WDR93	56964	broad.mit.edu	37	15	90276391	90276391	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:90276391C>T	uc002boj.3	+	12	1586	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	WDR93_uc010bnr.3_Silent_p.S467S|WDR93_uc010upz.2_Silent_p.S212S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	495					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGACGCCTCCCTCCATCTGG	0.502000														57			19		0	0	9.7654e-05	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387625	50387625	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:50387625C>T	uc002pqo.3	+	11	1542	c.1243_splice	c.e11+1	p.G415_splice	TBC1D17_uc010ybg.2_Splice_Site_p.G382_splice|TBC1D17_uc002pqp.3_Splice_Site_p.G66_splice|TBC1D17_uc002pqr.3_Splice_Site_p.G66_splice	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	415	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTTCGACCTCGGTGGGTGCC	0.662000														153			34		0	0	0.000147903	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066874	18066874	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:18066874C>G	uc003stz.3	-	0	613	c.532G>C	c.(532-534)Gtg>Ctg	p.V178L		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	178					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATGGAGGTCACTCTTTTAGCT	0.463000														57			39		0	0	0.000228196	0	0
ADAM30	11085	broad.mit.edu	37	1	120437199	120437200	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:120437199_120437200CC>AA	uc001eij.3	-	0	1948_1949	c.1760_1761GG>TT	c.(1759-1761)tgg>tTT	p.W587F		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	587	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGCCTGTGCCCCAGCACATGAG	0.436000														673			23		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21231052	21231053	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:21231052_21231053GG>TT	uc002red.3	-	25	8815_8816	c.8687_8688CC>AA	c.(8686-8688)ccc>cAA	p.P2896Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2896					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTCCAGTTTGGGGATGTTCAA	0.431000														338			9		0	0	6.4e-05	0	0
RORB	6096	broad.mit.edu	37	9	77280476	77280476	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:77280476G>A	uc004aji.3	+	6	1047	c.998G>A	c.(997-999)gGa>gAa	p.G333E	RORB_uc004ajh.3_Missense_Mutation_p.G322E	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	333	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGTTTGAAGGAAAATATGGA	0.353000														90			20		0	0	0.000375601	0	0
TMEM59	9528	broad.mit.edu	37	1	54506432	54506432	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:54506432G>A	uc001cwq.3	-	5	957	c.707C>T	c.(706-708)tCt>tTt	p.S236F	TMEM59_uc001cwn.3_Missense_Mutation_p.S99F|TMEM59_uc001cwo.3_Missense_Mutation_p.S98F|TMEM59_uc001cwp.3_Missense_Mutation_p.S235F	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	Homo sapiens transmembrane protein 59 (TMEM59), mRNA.	235						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TACATACAGAGAGAGGCATCT	0.318000														221			34		0	0	0.000159656	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874691	144874691	+	Silent	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:144874691G>T	uc021ouh.1	-	29	5219	c.4917C>A	c.(4915-4917)ccC>ccA	p.P1639P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.P1639P|PDE4DIP_uc001elx.4_Silent_p.P1595P|PDE4DIP_uc001elv.4_Silent_p.P646P	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1639	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.P1639P(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGAGTGACTGGGAGAAGCTT	0.502000			T	PDGFRB	MPD									277			13		1.15088e-07	1.95609e-06	0.000422831	1	0
DDX60L	91351	broad.mit.edu	37	4	169327209	169327209	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:169327209G>A	uc021xuh.1	-	22	3215	c.3105C>T	c.(3103-3105)ttC>ttT	p.F1035F	DDX60L_uc003irq.4_Silent_p.F1035F|DDX60L_uc003irr.1_Silent_p.F1035F|DDX60L_uc003irs.1_Silent_p.F730F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1035							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAAAAAGAATGAATTCCTCTG	0.294000														27			6		0	0	0.000157383	0	0
SV2B	9899	broad.mit.edu	37	15	91835678	91835679	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:91835678_91835679GG>TT	uc002bqv.3	+	13	2839_2840	c.1948_1949GG>TT	c.(1948-1950)ggg>TTg	p.G650L	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G499L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	650					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCTTTTGTTGGGATAACCAAA	0.500000														538			18		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9046965	9046965	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:9046965C>T	uc002mkp.3	-	4	34870	c.34666G>A	c.(34666-34668)Gac>Aac	p.D11556N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11558	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						GTACTGGTGTCTGTCCCAGAA	0.517000														18			5		0	0	3.59834e-05	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593187	136593187	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:136593187C>T	uc003qgx.1	-	7	2242	c.1989G>A	c.(1987-1989)agG>agA	p.R663R	BCLAF1_uc003qgy.1_Silent_p.R661R|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.R661R|BCLAF1_uc003qgw.1_Silent_p.R490R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	663					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGGTATGCTTCCTCAGGGTAC	0.303000														38			5		0	0	3.59834e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13901548	13901548	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:13901548G>A	uc003jfd.2	-	13	1907	c.1865C>T	c.(1864-1866)cCc>cTc	p.P622L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	622	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)					TCCAGCGATGGGAGGCTGGTT	0.493000									Kartagener syndrome					29			9		0	0	3.86212e-05	0	0
DHRS2	10202	broad.mit.edu	37	14	24114495	24114495	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:24114495C>T	uc001wkt.4	+	8	1334	c.887C>T	c.(886-888)cCa>cTa	p.P296L	DHRS2_uc001wku.4_3'UTR|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCTGTGGTCCCAGGCCCAGGA	0.597000														46			31		0	0	0.000491102	0	0
SOX6	55553	broad.mit.edu	37	11	15994523	15994523	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:15994523G>A	uc001mme.3	-	15	2391	c.2358C>T	c.(2356-2358)ctC>ctT	p.L786L	SOX6_uc001mmd.3_Silent_p.L749L|SOX6_uc001mmf.3_Silent_p.L746L|SOX6_uc001mmg.3_Silent_p.L753L	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	773					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGATGACCGGGAGGCTGGGCT	0.507000														26			20		0	0	0.00047179	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069397	57069397	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:57069397G>A	uc001njr.3	-	7	5167	c.4855C>T	c.(4855-4857)Cca>Tca	p.P1619S	TNKS1BP1_uc001njq.3_Missense_Mutation_p.P192S|TNKS1BP1_uc001njs.3_Missense_Mutation_p.P1619S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1619	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTGAAGATGGCACCCGAGAT	0.597000														24			9		0	0	0.000274275	0	0
BFAR	51283	broad.mit.edu	37	16	14738351	14738352	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:14738351_14738352GG>TT	uc002dco.3	+	1	429_430	c.148_149GG>TT	c.(148-150)ggg>TTg	p.G50L	BFAR_uc010uzh.2_5'UTR	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	50					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTTGAACTGTGGGCACAGCTTC	0.480000														112			9		0	0	6.4e-05	0	0
LRIT3	345193	broad.mit.edu	37	4	110791224	110791224	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:110791224G>A	uc003hzx.4	+	2	1377	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	LRIT3_uc003hzw.4_Missense_Mutation_p.R257Q	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	395						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCCAACAAGCGATCATTCCAG	0.468000														61			13		0	0	0.00010058	0	0
ERC2	26059	broad.mit.edu	37	3	56330239	56330239	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:56330239C>T	uc021wzo.1	-	1	1022	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ERC2_uc003dhr.1_Silent_p.Q294Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	294						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGGTTTGTTTCTGCGTTTCAA	0.458000														314			75		0	0	0.000147903	0	0
SGSM1	129049	broad.mit.edu	37	22	25255730	25255730	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:25255730G>A	uc003abg.2	+	8	1006	c.849G>A	c.(847-849)acG>acA	p.T283T	SGSM1_uc010guu.1_Silent_p.T283T|SGSM1_uc003abh.2_Silent_p.T283T|SGSM1_uc003abj.2_Silent_p.T283T|SGSM1_uc003abi.1_Silent_p.T258T|SGSM1_uc003abf.2_Silent_p.T283T	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	283						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGCACCAGACGGCTGACGTCA	0.592000														69			11		0	0	3.86212e-05	0	0
FAM91A1	157769	broad.mit.edu	37	8	124818335	124818335	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:124818335A>T	uc003yqv.3	+	19	1959	c.1898A>T	c.(1897-1899)aAt>aTt	p.N633I	FAM91A1_uc011lik.1_Missense_Mutation_p.N633I|FAM91A1_uc011lil.2_Missense_Mutation_p.N391I	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	633										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)			ACTCGTGTCAATATGGGTGTT	0.388000														82			12		0	0	0.000151284	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816050	23816050	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:23816050G>A	uc003gqs.3	-	7	1176	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	352					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CATACAACTCGGATTGCTCCG	0.537000														85			11		0	0	6.40141e-05	0	0
RCN3	57333	broad.mit.edu	37	19	50040354	50040354	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:50040354G>A	uc002poj.3	+	3	957	c.510G>A	c.(508-510)cgG>cgA	p.R170R	TRNA_Lys_uc021uxn.1_5'Flank	NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	170	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GGGACGAGCGGCGTTTCCGGG	0.582000														157			23		0	0	9.22233e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168099458	168099458	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:168099458G>A	uc002udx.3	+	8	1645	c.1556G>A	c.(1555-1557)aGt>aAt	p.S519N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S344N|XIRP2_uc010fpq.3_Missense_Mutation_p.S297N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	344					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						GATTATATCAGTGAAGTTTCT	0.328000														18			4		0	0	0.000602214	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673336	25673336	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:25673336C>T	uc003grr.3	+	8	1122	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	SLC34A2_uc003grs.3_Silent_p.I346I|SLC34A2_uc010iev.3_Silent_p.I346I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	347					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGGAGAACATCGCCAAATGTG	0.507000			T	ROS1	NSCLC									99			61		0	0	0.000147903	0	0
XIST	7503	broad.mit.edu	37	X	73063860	73063860	+	RNA	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:73063860G>A	uc004ebm.1	-	0		c.8729C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GAAGTGATAGGGTTGTGGACA	0.418000														15			6		0	0	3.59834e-05	0	0
RNGTT	8732	broad.mit.edu	37	6	89479524	89479524	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:89479524G>A	uc003pmr.2	-	12	1628	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	RNGTT_uc003pms.2_Missense_Mutation_p.R447C|RNGTT_uc011dzu.1_Missense_Mutation_p.R387C|RNGTT_uc003pmt.2_Missense_Mutation_p.R470C	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	470	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATTTTTAGACGAAAATCCACA	0.358000														19			9		0	0	0.000442599	0	0
CHD9	80205	broad.mit.edu	37	16	53337980	53337980	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:53337980T>C	uc002ehb.3	+	29	6226	c.6062T>C	c.(6061-6063)gTa>gCa	p.V2021A	CHD9_uc002egy.3_Missense_Mutation_p.V2021A|CHD9_uc002ehc.3_Missense_Mutation_p.V2021A|CHD9_uc002ehf.3_Missense_Mutation_p.V1135A|CHD9_uc002ehg.2_Missense_Mutation_p.V1135A|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2021					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAATATCAAGTAGCACTTTCT	0.413000														44			18		0	0	9.7654e-05	0	0
CLGN	1047	broad.mit.edu	37	4	141334224	141334224	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:141334224G>A	uc011chi.2	-	2	227	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CLGN_uc003iii.3_Silent_p.F3F	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	3					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.F3F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAAAGGCTTGGAAATGCATAT	0.284000														95			15		0	0	9.7654e-05	0	0
OR2W3	343171	broad.mit.edu	37	1	248059688	248059688	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:248059688C>T	uc010pzb.2	+	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F	OR2W3_uc001idp.1_Missense_Mutation_p.S267F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCAGTTCTTCCCAGGACCAG	0.537000														39			31		0	0	0.00058488	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870456	51870456	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:51870456G>A	uc002xwo.3	+	1	1346	c.459G>A	c.(457-459)agG>agA	p.R153R	TSHZ2_uc021wex.1_Silent_p.R150R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	153					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTGAGAGGAGGAACTGTGACA	0.522000														98			20		0	0	9.22233e-05	0	0
SVEP1	79987	broad.mit.edu	37	9	113205880	113205880	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:113205880G>A	uc010mtz.3	-	26	4921	c.4584C>T	c.(4582-4584)atC>atT	p.I1528I	SVEP1_uc010mua.1_Silent_p.I1528I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1528	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTTCCCATCGATATAGACTT	0.438000														21			13		0	0	0.000219431	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930890	54930890	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:54930890C>T	uc003dhf.3	+	25	2409	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	CACNA2D3_uc003dhg.1_Silent_p.F693F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	787						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CGATCCCATTCAGCACTGGTG	0.567000														68			7		0	0	0.000157383	0	0
OR10A6	390093	broad.mit.edu	37	11	7950061	7950061	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:7950061G>A	uc010rbh.2	-	0	149	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGTCTAGGGAGACGATGAC	0.463000														34			9		0	0	3.86212e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40730799	40730799	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:40730799C>T	uc002xkg.3	-	25	3863	c.3679G>A	c.(3679-3681)Gaa>Aaa	p.E1227K	PTPRT_uc010ggj.3_Missense_Mutation_p.E1246K|PTPRT_uc010ggi.3_Missense_Mutation_p.E430K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1227	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E1249*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGCTGGATTCTCCGTCCACT	0.547000														63			7		0	0	0.000442599	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854208	12854208	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:12854208C>G	uc001auj.2	+	2	535	c.432C>G	c.(430-432)caC>caG	p.H144Q		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	144										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGAGAGCACCAGCCCTTAA	0.537000														186			23		0	0	0.000227799	0	0
ARMC8	25852	broad.mit.edu	37	3	137960791	137960792	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:137960791_137960792CC>AA	uc003esa.1	+	11	1329_1330	c.962_963CC>AA	c.(961-963)ccc>cAA	p.P321Q	ARMC8_uc003erw.3_Missense_Mutation_p.P321Q|ARMC8_uc003erx.3_Missense_Mutation_p.P321Q|ARMC8_uc003ery.3_Missense_Mutation_p.P293Q|ARMC8_uc011bmf.1_Missense_Mutation_p.P304Q|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Missense_Mutation_p.P262Q|ARMC8_uc003esb.1_Missense_Mutation_p.P293Q|ARMC8_uc003esc.1_Missense_Mutation_p.P93Q	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	335							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTCAAGTATCCCAGCTCAGTGA	0.391000														483			12		0	0	6.4e-05	0	0
SGSM1	129049	broad.mit.edu	37	22	25264821	25264821	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:25264821C>T	uc003abg.2	+	12	1448	c.1291_splice	c.e12+1	p.V431_splice	SGSM1_uc010guu.1_Splice_Site_p.V431_splice|SGSM1_uc003abh.2_Splice_Site_p.V431_splice|SGSM1_uc003abj.2_Splice_Site_p.V431_splice|SGSM1_uc003abi.1_Splice_Site_p.V406_splice	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	431						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGTCGGAATTCGGTGAGCTGC	0.532000														65			25		0	0	0.000184323	0	0
CCNE2	9134	broad.mit.edu	37	8	95906297	95906298	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95906297_95906298GG>TT	uc003yhc.3	-	2	168_169	c.64_65CC>AA	c.(64-66)ccc>AAc	p.P22N	CCNE2_uc003yhd.2_Missense_Mutation_p.P22N	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	22					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGCTTCTTGGGGGGATTCCGTC	0.450000														770			15		0	0	6.4e-05	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43933532	43933533	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:43933532_43933533CC>AA	uc010yny.2	+	9	1881_1882	c.1798_1799CC>AA	c.(1798-1800)cca>AAa	p.P600K	PLEKHH2_uc002rte.3_Missense_Mutation_p.P600K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P599K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	600						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CATGACCACCCCAGTGTATACA	0.361000														442			11		0	0	6.4e-05	0	0
BROX	148362	broad.mit.edu	37	1	222903487	222903488	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:222903487_222903488CC>AA	uc001hnq.1	+	10	1352_1353	c.957_958CC>AA	c.(955-960)acccta>acAAta	p.L320I	BROX_uc010put.1_Missense_Mutation_p.L288I|BROX_uc010puu.1_Missense_Mutation_p.L320I|BROX_uc010puv.1_Missense_Mutation_p.L288I|AK094916_uc001hnr.1_Splice_Site|AK025140_uc001hns.1_5'Flank	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	320	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TGAAGAACACCCTAGAAAAATG	0.307000														186			8		0	0	6.4e-05	0	0
MAGI2	9863	broad.mit.edu	37	7	77807405	77807405	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:77807405C>T	uc003ugx.3	-	13	2580	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	MAGI2_uc003ugy.3_Missense_Mutation_p.E762K|MAGI2_uc010ldx.1_Missense_Mutation_p.E369K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	776						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACATCCAATTCCTTATAATCT	0.438000														36			72		0	0	0.000147903	0	0
PRSS1	5644	broad.mit.edu	37	7	142458473	142458473	+	Silent	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:142458473C>A	uc003wak.2	+	1	125	c.108C>A	c.(106-108)ccC>ccA	p.P36P	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	36	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATTCTGTCCCCTACCAGGTGT	0.532000														120			8		0.000157383	0.00265423	0.000157383	1	0
PHLDB3	653583	broad.mit.edu	37	19	43998878	43998878	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:43998878G>A	uc002own.4	-	8	1384	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	PHLDB3_uc010eit.3_Silent_p.L79L	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	375										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGACAGAAAAGAGGCAGGAAG	0.597000														22			7		0	0	0.000274275	0	0
RGS7	6000	broad.mit.edu	37	1	240978044	240978044	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:240978044G>A	uc001hyt.2	-	4	367	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	RGS7_uc010pyh.2_Missense_Mutation_p.R247W|RGS7_uc010pyj.1_Missense_Mutation_p.R189W|RGS7_uc001hyu.2_Missense_Mutation_p.R273W|RGS7_uc009xgn.1_Missense_Mutation_p.R220W|RGS7_uc001hyv.2_Missense_Mutation_p.R273W|RGS7_uc001hyw.2_Missense_Mutation_p.R273W	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	273	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R273W(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATTTTTAACCGATGTCTATCT	0.289000														95			17		0	0	0.000229342	0	0
AHNAK	79026	broad.mit.edu	37	11	62292054	62292054	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:62292054G>A	uc001ntl.3	-	4	10135	c.9835C>T	c.(9835-9837)Cca>Tca	p.P3279S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3279					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAGTTTTGGACCTTTTAAT	0.413000														120			49		0	0	0.000147903	0	0
HCN1	348980	broad.mit.edu	37	5	45267329	45267329	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:45267329G>A	uc003jok.3	-	6	1670	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	549						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R548H(1)		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						CTGGCAGTACGACGTCCTTTG	0.408000														86			18		0	0	0.000132079	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:30795310C>T	uc003tbs.1	+	2	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000														25			24		0	0	0.000295444	0	0
NEIL2	252969	broad.mit.edu	37	8	11643471	11643472	+	Splice_Site	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:11643471_11643472GG>TT	uc003wug.2	+	5	1364	c.689_splice	c.e5-1	p.G230_splice	NEIL2_uc003wue.2_Splice_Site_p.G230_splice|NEIL2_uc003wuf.2_Splice_Site_p.G169_splice|NEIL2_uc011kxd.1_Splice_Site_p.G114_splice	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	230					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTTTATTTCAGGGAACATCATT	0.505000								Base excision repair (BER), DNA glycosylases						305			11		0	0	6.4e-05	0	0
TKTL1	8277	broad.mit.edu	37	X	153555954	153555954	+	Silent	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:153555954C>A	uc004fkg.3	+	10	1605	c.1419C>A	c.(1417-1419)gtC>gtA	p.V473V	TKTL1_uc011mzl.2_Silent_p.V467V|TKTL1_uc011mzm.2_Silent_p.V269V|TKTL1_uc004fkh.3_Silent_p.V417V	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	473					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					GCCACTGTGTCAGTGACAAGG	0.483000														63			18		6.94344e-10	1.18736e-08	7.07596e-05	1	0
CRHR2	1395	broad.mit.edu	37	7	30695256	30695256	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:30695256C>T	uc003tbn.3	-	9	1238	c.993G>A	c.(991-993)ggG>ggA	p.G331G	CRHR2_uc010kvw.2_Silent_p.G331G|CRHR2_uc010kvx.2_Silent_p.G330G|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Silent_p.G167G|CRHR2_uc003tbo.3_Silent_p.G317G|CRHR2_uc003tbp.3_Silent_p.G358G	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	331					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.G331W(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTCGTCCTCCCCGGGATTGA	0.592000														122			17		0	0	7.07596e-05	0	0
SLC16A2	6567	broad.mit.edu	37	X	73749050	73749050	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:73749050C>T	uc004ebt.2	+	4	1561	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	SLC16A2_uc010nlr.1_Intron	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	391						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TTCTCCAGGTCCTTTCCTTCC	0.527000														5			5		0	0	0.000602214	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670466	131670467	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:131670466_131670467GG>TT	uc003kwq.3	+	6	1267_1268	c.1102_1103GG>TT	c.(1102-1104)gga>TTa	p.G368L	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	368					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TAATTTACATGGAGATGCCTAC	0.455000														378			9		0	0	6.4e-05	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341862	46341862	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:46341862G>A	uc021qil.1	+	10	1741	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CREB3L1_uc021qik.1_Missense_Mutation_p.E436K|CREB3L1_uc001ncg.3_Missense_Mutation_p.E70K	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	436					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGCTTATGGGAAGATGGCCG	0.647000			T	FUS	myxofibrosarcoma									8			6		0	0	0.000274275	0	0
LUZP2	338645	broad.mit.edu	37	11	24750756	24750756	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:24750756T>A	uc001mqs.3	+	1	378	c.104T>A	c.(103-105)tTt>tAt	p.F35Y	LUZP2_uc009yif.3_5'UTR|LUZP2_uc009yig.3_Missense_Mutation_p.F35Y	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	35						extracellular region		p.V34V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAAGAAGTCTTTAAGGAGCGA	0.433000														40			6		0	0	0.000157383	0	0
C1orf55	163859	broad.mit.edu	37	1	226178949	226178949	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:226178949G>A	uc001hpu.4	-	4	689	c.636C>T	c.(634-636)tgC>tgT	p.C212C		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	212								p.A211A(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					CTTACCAGAAGCATCTCCTCT	0.438000														52			14		0	0	0.000566183	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605974	1605974	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:1605974G>A	uc001ltu.1	-	0	540	c.506C>T	c.(505-507)tCt>tTt	p.S169F	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	169	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCACAAGAACCACAGGC	0.662000														28			17		0	0	0.000566183	0	0
FNDC1	84624	broad.mit.edu	37	6	159654273	159654273	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:159654273G>A	uc010kjv.3	+	10	2929	c.2729G>A	c.(2728-2730)aGg>aAg	p.R910K	FNDC1_uc010kjw.1_Missense_Mutation_p.R795K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	910						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAGGACTTAAGGAGAAGCCCG	0.612000														10			5		0	0	0.000602214	0	0
HDAC9	9734	broad.mit.edu	37	7	18801862	18801862	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:18801862C>T	uc003sui.3	+	13	2167	c.2126C>T	c.(2125-2127)cCc>cTc	p.P709L	HDAC9_uc003sue.3_Missense_Mutation_p.P706L|HDAC9_uc011jyd.2_Missense_Mutation_p.P706L|HDAC9_uc003suh.3_Missense_Mutation_p.P706L|HDAC9_uc003suj.3_Missense_Mutation_p.P665L|HDAC9_uc003sua.1_Missense_Mutation_p.P684L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	706	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCACCAACCCCCTGGACGGA	0.502000														5			5		0	0	0.000602214	0	0
ZNF235	9310	broad.mit.edu	37	19	44791848	44791848	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:44791848G>A	uc002oza.4	-	4	1843	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.F576F	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGCCTGACTGAAACCCTTAC	0.483000														22			16		0	0	0.000422831	0	0
PLXNA4	91584	broad.mit.edu	37	7	131895824	131895824	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:131895824T>A	uc003vra.4	-	9	2405	c.2176A>T	c.(2176-2178)Aac>Tac	p.N726Y		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	726						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGGGGAGGTTCTTGGCCTTC	0.637000														6			9		0	0	0.000274275	0	0
BLM	641	broad.mit.edu	37	15	91304164	91304165	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:91304164_91304165CC>AA	uc002bpr.3	+	6	1658_1659	c.1561_1562CC>AA	c.(1561-1563)cca>AAa	p.P521K	BLM_uc010uqh.2_Missense_Mutation_p.P521K|BLM_uc010uqi.2_Missense_Mutation_p.P146K|BLM_uc010bnx.3_Missense_Mutation_p.P521K	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	521					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTCTTATTTCCCAGGAAATGTT	0.361000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					596			14		0	0	6.4e-05	0	0
C15orf2	23742	broad.mit.edu	37	15	24924379	24924379	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:24924379G>C	uc001ywo.3	+	0	3839	c.3365G>C	c.(3364-3366)tGc>tCc	p.C1122S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1122					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)		TTTCAACAGTGCATCCTGCAG	0.473000														81			23		0	0	0.00047179	0	0
CCDC93	54520	broad.mit.edu	37	2	118732778	118732778	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:118732778G>A	uc002tlj.3	-	8	904	c.736C>T	c.(736-738)Cga>Tga	p.R246*	CCDC93_uc010fld.2_Nonsense_Mutation_p.R302*	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	246										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCAGCTGCTCGAAGCTCATCT	0.502000														117			39		0	0	0.000147903	0	0
NRP1	8829	broad.mit.edu	37	10	33510678	33510678	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:33510678C>T	uc001iwx.4	-	7	1774	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	NRP1_uc001iwv.4_Missense_Mutation_p.M417I|NRP1_uc001iwy.4_Missense_Mutation_p.M417I|NRP1_uc009xlz.3_Missense_Mutation_p.M417I|NRP1_uc001iww.4_Missense_Mutation_p.M236I|NRP1_uc001iwz.2_Missense_Mutation_p.M417I|NRP1_uc001ixa.2_Missense_Mutation_p.M417I|NRP1_uc001ixb.2_Missense_Mutation_p.M417I|NRP1_uc001ixc.1_Missense_Mutation_p.M417I	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	417	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTCAAATCTCATAGATATGC	0.418000														73			35		0	0	0.000191422	0	0
SCN11A	11280	broad.mit.edu	37	3	38889195	38889195	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:38889195G>A	uc021wvy.1	-	25	4565	c.4366C>T	c.(4366-4368)Cct>Tct	p.P1456S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1456					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAGGGAAAGGAATGTGCTCC	0.502000														10			10		0	0	3.86212e-05	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717102	142717102	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:142717102C>T	uc022cfm.1	-	0	1823	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SLITRK4_uc022cfl.1_Missense_Mutation_p.R608Q|SLITRK4_uc004fbx.3_Missense_Mutation_p.R608Q|SLITRK4_uc004fby.3_Missense_Mutation_p.R608Q	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	608						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGACTTCGAATGGGACC	0.418000														22			16		0	0	0.000308642	0	0
MIA3	375056	broad.mit.edu	37	1	222801519	222801520	+	Nonsense_Mutation	DNP	GG	TT	TT	rs147177797	by1000genomes	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:222801519_222801520GG>TT	uc001hnl.3	+	3	966_967	c.957_958GG>TT	c.(955-960)gaggag>gaTTag	p.319_320EE>D*	MIA3_uc009xea.1_Nonsense_Mutation_p.155_156EE>D*	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	319					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGGAAGATGAGGAGAACCAAGA	0.386000														536			12		0	0	6.4e-05	0	0
SOS1	6654	broad.mit.edu	37	2	39294888	39294889	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:39294888_39294889CC>AA	uc002rrk.4	-	1	134_135	c.93_94GG>TT	c.(91-96)cagggg>caTTgg	p.31_32QG>HW	SOS1_uc010ynr.1_Non-coding_Transcript	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	31					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGAACTTGCCCCTGGACCTATA	0.366000									Noonan syndrome					185			9		0	0	6.4e-05	0	0
TRIM33	51592	broad.mit.edu	37	1	114948113	114948114	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:114948113_114948114CC>AA	uc001eew.3	-	14	2770_2771	c.2686_2687GG>TT	c.(2686-2688)gga>TTa	p.G896L	TRIM33_uc010owr.2_Missense_Mutation_p.G510L|TRIM33_uc010ows.2_Missense_Mutation_p.G528L|TRIM33_uc001eex.3_Missense_Mutation_p.G896L|TRIM33_uc001eey.1_Missense_Mutation_p.G91L	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	896					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding	p.G896R(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		GAGATCTCCTCCGTTTTGGCAG	0.446000			T	RET	papillary thyroid									287			10		0	0	6.4e-05	0	0
FAT4	79633	broad.mit.edu	37	4	126402830	126402830	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:126402830G>A	uc003ifj.4	+	14	12753	c.12753G>A	c.(12751-12753)agG>agA	p.R4251R	FAT4_uc011cgp.2_Silent_p.R2492R|FAT4_uc003ifi.1_Silent_p.R1729R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4251	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						TAAAATTTAGGACCAGAAGCG	0.403000														40			13		0	0	0.000151284	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282839	140282839	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:140282839C>T	uc003etn.3	+	15	2709	c.2519C>T	c.(2518-2520)tCc>tTc	p.S840F		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	840					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ATCATCATCTCCGTGTGCATG	0.537000										HNSCC(16;0.037)				159			23		0	0	0.000375601	0	0
LILRA1	11024	broad.mit.edu	37	19	55086778	55086779	+	Missense_Mutation	DNP	GG	AA	AA	rs139468214		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:55086778_55086779GG>AA	uc010ern.3	+	5	1180_1181	c.711_712GG>AA	c.(709-714)ggggag>ggAAag	p.E238K	LILRA1_uc002qgg.4_Missense_Mutation_p.E238K|LILRA1_uc002qgf.3_Missense_Mutation_p.E238K|LILRA1_uc010yfe.1_Missense_Mutation_p.E238K|LILRA1_uc010yff.1_Missense_Mutation_p.E226K|LILRA1_uc010ero.3_Missense_Mutation_p.E226K|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	240	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGCCCCCGGGGAGAGCCTGAC	0.569000														70			14		0	0	6.4e-05	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692907	187692907	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:187692907C>T	uc002upu.1	-	8	1746	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	569					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAAAGTTGATCTCTTGTTGTC	0.368000														9			5		0	0	0.000602214	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:30705003C>T	uc003xil.3	-	0	1531	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000														138			18		0	0	7.07596e-05	0	0
abParts	0	broad.mit.edu	37	14	107178854	107178854	+	RNA	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:107178854G>A	uc021ser.1	-	37		c.2484C>T								Parts of antibodies, mostly variable regions.																		TGTGTCCACAGGGTCCATGTT	0.507000														76			9		0	0	3.86212e-05	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922166	78922166	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:78922166G>A	uc002bed.1	-	4	593	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	161					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TGGTCGAAGGGAAAGTACTTC	0.562000														32			17		0	0	0.000566183	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916572	144916572	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:144916572C>T	uc021ouh.1	-	12	2085	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E595K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E661K|PDE4DIP_uc001emd.2_Missense_Mutation_p.E595K|PDE4DIP_uc001emc.2_Missense_Mutation_p.E595K|PDE4DIP_uc001emb.1_Missense_Mutation_p.E758K|PDE4DIP_uc001eme.1_Missense_Mutation_p.E124K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	595					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTCTTGCCTCCACTTCTTTG	0.423000			T	PDGFRB	MPD									681			147		0	0	0.000147903	0	0
ZNF546	339327	broad.mit.edu	37	19	40521320	40521320	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:40521320C>T	uc002oms.2	+	6	2399	c.2143C>T	c.(2143-2145)Cac>Tac	p.H715Y	ZNF546_uc002omt.2_Missense_Mutation_p.H689Y	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCAAAGAATTCACACTGGTGA	0.388000														38			26		0	0	0.000147802	0	0
SYT7	9066	broad.mit.edu	37	11	61300491	61300491	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:61300491G>A	uc001nrv.3	-	3	373	c.321C>T	c.(319-321)ctC>ctT	p.L107L	SYT7_uc009ynr.3_Silent_p.L182L	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	107						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGAGTTGACGAGGTCTGAGA	0.647000														63			12		0	0	0.000219431	0	0
SPTA1	6708	broad.mit.edu	37	1	158590199	158590199	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:158590199C>T	uc001fst.1	-	43	6377	c.6178G>A	c.(6178-6180)Gaa>Aaa	p.E2060K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2060					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCATCTTTTCACACCAGTTG	0.468000														26			7		0	0	0.000274275	0	0
ESRP1	54845	broad.mit.edu	37	8	95709088	95709089	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95709088_95709089CG>AT	uc003ygq.4	+	14	2163_2164	c.1980_1981CG>AT	c.(1978-1983)accgag>acATag	p.E661*	ESRP1_uc003ygr.4_Nonsense_Mutation_p.E657*|ESRP1_uc003ygs.4_Intron|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Intron|ESRP1_uc003ygw.3_Missense_Mutation_p.P450H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	661					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGTATGCAACCGAGGATGGACT	0.386000														399			13		0	0	6.4e-05	0	0
C20orf26	26074	broad.mit.edu	37	20	20208996	20208996	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:20208996C>T	uc002wru.3	+	17	2150	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	C20orf26_uc010zse.2_Missense_Mutation_p.S659F|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Missense_Mutation_p.S35F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	679										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTTGGAATTTCCTTCCTAGAG	0.333000														172			44		0	0	0.000147903	0	0
TM6SF1	53346	broad.mit.edu	37	15	83781551	83781551	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:83781551C>T	uc002bjp.3	+	1	204	c.95C>T	c.(94-96)tCc>tTc	p.S32F	TM6SF1_uc010bmq.3_Missense_Mutation_p.S32F|TM6SF1_uc002bjq.3_Missense_Mutation_p.S32F|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	32						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGTTGCAGTTCCTGGACTATT	0.502000														67			21		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179552913	179552913	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:179552913C>T	uc021vsy.1	-	123	28729	c.28504G>A	c.(28504-28506)Gaa>Aaa	p.E9502K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6163K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10429	Poly-Glu.						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)			GACACACCTTCCTCCTCTTCT	0.383000														78			29		0	0	0.000339439	0	0
GRIK1	2897	broad.mit.edu	37	21	31023548	31023548	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:31023548G>A	uc002yno.1	-	5	1308	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	GRIK1_uc002ynn.3_Silent_p.L282L|GRIK1_uc011acs.2_Silent_p.L282L|GRIK1_uc011act.2_Silent_p.L226L|GRIK1_uc010glq.1_Silent_p.L140L|GRIK1_uc002ynr.3_Silent_p.L282L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	282					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.R281Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATGTTAAGCAGCCGAAACCCG	0.478000														26			17		0	0	0.000422831	0	0
MYH2	4620	broad.mit.edu	37	17	10438462	10438462	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:10438462C>T	uc010coi.3	-	18	2236	c.2108G>A	c.(2107-2109)gGt>gAt	p.G703D	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G703D|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.	703	Myosin head-like.				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						TTCCAGCACACCGTTACACCT	0.463000														25			18		0	0	0.000566183	0	0
RGL4	266747	broad.mit.edu	37	22	24034999	24034999	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:24034999G>A	uc002zxo.3	+	2	1774	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Missense_Mutation_p.G173R|RGL4_uc002zxp.1_Missense_Mutation_p.G37R|RGL4_uc002zxq.3_Missense_Mutation_p.G37R			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	173	Pro-rich.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TTCAGCACCAGGGCCAGCACC	0.647000											OREG0007113	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=Rgr|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		32			38		0	0	0.000509022	0	0
TRIB1	10221	broad.mit.edu	37	8	126448703	126448703	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:126448703T>C	uc003yrx.3	+	2	1691	c.1109T>C	c.(1108-1110)tTc>tCc	p.F370S	TRIB1_uc011lis.2_Missense_Mutation_p.F204S|TRIB1_uc010mdn.3_Missense_Mutation_p.F139S|TRIB1_uc022bay.1_Non-coding_Transcript	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	370					JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ATTAGTTCCTTCTTCTGCTAA	0.463000														157			94		0	0	0.000147903	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916680	144916681	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:144916680_144916681GG>TT	uc021ouh.1	-	12	1976_1977	c.1674_1675CC>AA	c.(1672-1677)ctccag>ctAAag	p.Q559K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q559K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q625K|PDE4DIP_uc001emd.2_Missense_Mutation_p.Q559K|PDE4DIP_uc001emc.2_Missense_Mutation_p.Q559K|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q722K|PDE4DIP_uc001eme.1_Missense_Mutation_p.Q88K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	559					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCAGCCACTGGAGGTTTTGAC	0.436000			T	PDGFRB	MPD									663			17		0	0	6.4e-05	0	0
FAM47C	442444	broad.mit.edu	37	X	37027219	37027219	+	Missense_Mutation	SNP	C	T	T	rs148119466	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:37027219C>T	uc004ddl.2	+	0	788	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	246										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCATCTCCGCCCAGA	0.627000														5			18		0	0	0.000132079	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651525	1651525	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:1651525A>G	uc001lty.3	+	0	493	c.455A>G	c.(454-456)tAt>tGt	p.Y152C	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	152	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTGGTTCTTATGGCTGCTCC	0.662000														34			4		0	0	0.000602214	0	0
CLCA1	1179	broad.mit.edu	37	1	86961274	86961274	+	Missense_Mutation	SNP	G	A	A	rs148962584	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:86961274G>A	uc001dlt.3	+	11	2289	c.2029G>A	c.(2029-2031)Gct>Act	p.A677T		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	677					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AAAAGTGCGGGCTCTGGGAGG	0.453000														36			10		0	0	3.86212e-05	0	0
CR1	1378	broad.mit.edu	37	1	207812749	207812750	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:207812749_207812750CC>TT	uc001hfy.3	+	38	6255_6256	c.6115_6116CC>TT	c.(6115-6117)cct>TTt	p.P2039F	CR1_uc001hfx.3_Missense_Mutation_p.P2489F|CR1_uc021pij.1_Missense_Mutation_p.P2039F	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	2039					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGGTCCTTCCTTGACAAAGT	0.366000														9			7		0	0	6.4e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	2944738	2944738	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:2944738C>T	uc022aqr.1	-	48	7745	c.7355G>A	c.(7354-7356)gGa>gAa	p.G2452E	CSMD1_uc011kwj.2_Missense_Mutation_p.G1782E|CSMD1_uc010lrg.3_Missense_Mutation_p.G521E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2453	Sushi 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACTTTGCTTCCAACCGCTCC	0.512000														74			8		0	0	0.000157383	0	0
ZMYND15	84225	broad.mit.edu	37	17	4647960	4647960	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:4647960C>T	uc002fyu.2	+	9	1754	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	ZMYND15_uc002fyv.2_Missense_Mutation_p.S575L|ZMYND15_uc002fyt.2_Missense_Mutation_p.S536L	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	536							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCCGGCATATCAGCACGGCCC	0.632000														29			18		0	0	7.07596e-05	0	0
PCSK5	5125	broad.mit.edu	37	9	78784688	78784688	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:78784688G>A	uc004akc.2	+	12	2226	c.1688G>A	c.(1687-1689)aGa>aAa	p.R563K	PCSK5_uc004ajy.2_Missense_Mutation_p.R563K|PCSK5_uc004ajz.3_Missense_Mutation_p.R563K|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	563	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.E562Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGGGAGAAAGAGCTGCTGGT	0.423000														49			39		0	0	0.000437636	0	0
FABP5	2171	broad.mit.edu	37	8	82196159	82196159	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:82196159G>A	uc003yca.2	+	2	417	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_001444	NP_001435	Q01469	FABP5_HUMAN	Homo sapiens fatty acid binding protein 5 (psoriasis-associated) (FABP5), mRNA.	102					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GGAGTGGGATGGGAAGGAAAG	0.398000														19			4		0	0	0.000602214	0	0
MTMR7	9108	broad.mit.edu	37	8	17157596	17157596	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:17157596C>T	uc003wxm.3	-	13	1997	c.1758G>A	c.(1756-1758)atG>atA	p.M586I	MTMR7_uc011kya.2_Missense_Mutation_p.M220I|MTMR7_uc011kyb.2_Missense_Mutation_p.M177I	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	586							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAAATGATTTCATATTCCCAC	0.468000														69			43		0	0	0.000147903	0	0
FKBPL	63943	broad.mit.edu	37	6	32096607	32096608	+	Missense_Mutation	DNP	GG	TT	TT	rs146973385		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:32096607_32096608GG>TT	uc003nzr.3	-	1	1220_1221	c.950_951CC>AA	c.(949-951)ccc>cAA	p.P317Q	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.P317Q	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	317					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.P317P(1)									CCCGGTTTTTGGGATCTATCGC	0.569000														445			15		0	0	6.4e-05	0	0
ANK3	288	broad.mit.edu	37	10	61833835	61833835	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:61833835T>C	uc001jky.3	-	36	7142	c.6804A>G	c.(6802-6804)gaA>gaG	p.E2268E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2268					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACATGGTTTCTTCAATTCTTT	0.478000														53			15		0	0	7.07596e-05	0	0
RAD21	5885	broad.mit.edu	37	8	117862909	117862909	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:117862909G>T	uc003yod.3	-	11	1856	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	523					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ctctttttcTGGCAGAAGTTC	0.398000														68			6		3.59834e-05	0.000608949	3.59834e-05	1	0
SP140L	93349	broad.mit.edu	37	2	231236359	231236359	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:231236359G>A	uc010fxm.1	+	6	721	c.630G>A	c.(628-630)agG>agA	p.R210R	SP140L_uc010fxn.2_Silent_p.R123R|SP140L_uc010fxo.1_Silent_p.R17R	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	210						nucleus	DNA binding|metal ion binding	p.K209E(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AACCCAAGAGGAAAAGAAGTA	0.279000														39			13		0	0	0.000219431	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374068	113374068	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:113374068G>A	uc003eam.3	-	6	6872	c.6461C>T	c.(6460-6462)tCa>tTa	p.S2154L	KIAA2018_uc003eal.3_Missense_Mutation_p.S2098L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	2154					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGATAAAATTGATCCAAATCG	0.403000														36			9		0	0	0.000442599	0	0
ZYX	7791	broad.mit.edu	37	7	143080209	143080209	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:143080209T>G	uc003wcx.3	+	4	975	c.817T>G	c.(817-819)Ttt>Gtt	p.F273V	ZYX_uc011ktd.2_Missense_Mutation_p.F116V|ZYX_uc003wcw.3_Missense_Mutation_p.F273V|ZYX_uc011kte.2_Missense_Mutation_p.F242V|ZYX_uc011ktf.2_Missense_Mutation_p.F116V	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	273					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GACTCCTAAGTTTACTCCTGT	0.577000														202			12		0	0	6.40141e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438406	120438407	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:120438406_120438407GG>TT	uc001eij.3	-	0	741_742	c.553_554CC>AA	c.(553-555)cct>AAt	p.P185N		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	185					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTCTCATAAGGGGCCATCTGC	0.421000														668			18		0	0	6.4e-05	0	0
RNF214	257160	broad.mit.edu	37	11	117150966	117150966	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:117150966C>T	uc001pqt.3	+	7	1181	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I	RNF214_uc001pqu.3_Missense_Mutation_p.T379I|RNF214_uc010rxf.2_Missense_Mutation_p.T224I	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	379							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TTGCACCTTACTTACCTCAAG	0.393000														90			19		0	0	0.000175454	0	0
TKTL1	8277	broad.mit.edu	37	X	153555960	153555960	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:153555960C>G	uc004fkg.3	+	10	1611	c.1425C>G	c.(1423-1425)gaC>gaG	p.D475E	TKTL1_uc011mzl.2_Missense_Mutation_p.D469E|TKTL1_uc011mzm.2_Missense_Mutation_p.D271E|TKTL1_uc004fkh.3_Missense_Mutation_p.D419E	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	475					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					GTGTCAGTGACAAGGTCACAG	0.463000														60			21		0	0	0.000295444	0	0
SOS2	6655	broad.mit.edu	37	14	50649239	50649239	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:50649239A>C	uc001wxs.4	-	5	898	c.800T>G	c.(799-801)aTg>aGg	p.M267R	SOS2_uc010tql.2_Missense_Mutation_p.M267R|SOS2_uc001wxt.2_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	267	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCATCAGTCATTTCAACTGT	0.333000														53			28		0	0	0.000491102	0	0
OR11H4	390442	broad.mit.edu	37	14	20711839	20711839	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:20711839C>T	uc010tld.2	+	0	889	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P297A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCTTTTTAATCCTCTGATCTA	0.398000														72			19		0	0	0.000132079	0	0
NLRP8	126205	broad.mit.edu	37	19	56459380	56459380	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:56459380G>A	uc002qmh.3	+	0	183	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NLRP8_uc010etg.3_Missense_Mutation_p.E38K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	38	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCCCCATGTGAAAATGGGGT	0.527000														38			23		0	0	0.000229342	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004616	52004616	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:52004616C>T	uc002pwx.1	-	0	428	c.372G>A	c.(370-372)gaG>gaA	p.E124E	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	124	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TATTTCCTCTCTCTACACAAA	0.478000														67			34		0	0	0.000491102	0	0
RPL26L1	51121	broad.mit.edu	37	5	172386879	172386879	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:172386879G>A	uc003mcc.3	+	1	45	c.3G>A	c.(1-3)atG>atA	p.M1I	LOC100268168_uc011dfb.2_5'Flank|LOC100268168_uc011dfc.2_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Homo sapiens ribosomal protein L26-like 1 (RPL26L1), mRNA.	1					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTCACCATGAAGTTCAATC	0.562000											OREG0017052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			46		0	0	0.000147903	0	0
NR1D2	9975	broad.mit.edu	37	3	24003915	24003915	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:24003915T>C	uc003ccs.2	+	4	1284	c.965T>C	c.(964-966)tTc>tCc	p.F322S	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.F247S	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	322					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AATGGACAGTTCAAAGGGAGG	0.393000														32			12		0	0	0.000308642	0	0
BZRAP1	9256	broad.mit.edu	37	17	56400098	56400098	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:56400098C>T	uc002ivx.4	-	8	2105	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	BZRAP1_uc010dcs.3_Missense_Mutation_p.G352R|BZRAP1_uc010wnt.2_Missense_Mutation_p.G412R|LOC100506779_uc021uan.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	412						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGTCACCCCCAGGAGCTGG	0.647000														19			21		0	0	0.000375601	0	0
SYDE2	84144	broad.mit.edu	37	1	85656400	85656401	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:85656400_85656401CC>AA	uc009wcm.3	-	1	829_830	c.780_781GG>TT	c.(778-783)aaggga>aaTTga	p.260_261KG>N*	SYDE2_uc001dku.4_Nonsense_Mutation_p.260_261KG>N*	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	260					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGTTCTCTTCCCTTCATTGAAG	0.361000														351			12		0	0	6.4e-05	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415269	210415269	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:210415269C>T	uc001hhy.3	+	3	837	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	SERTAD4_uc009xcw.3_Missense_Mutation_p.P220S	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	220	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGcctcctctccctccgcctc	0.502000														47			14		0	0	0.000151284	0	0
C1orf9	51430	broad.mit.edu	37	1	172538211	172538211	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:172538211C>T	uc001giq.4	+	6	1101	c.785C>T	c.(784-786)cCc>cTc	p.P262L	C1orf9_uc010pmm.1_Missense_Mutation_p.P262L|C1orf9_uc009wwd.3_Missense_Mutation_p.P225L|C1orf9_uc010pmn.2_Missense_Mutation_p.P225L|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.	262					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		p.P262P(1)		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)		GTAGCAAGTCCCAAAGATCCA	0.323000														80			31		0	0	0.000409698	0	0
TRPC7	57113	broad.mit.edu	37	5	135587547	135587547	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:135587547C>T	uc003lbn.2	-	5	1591	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	TRPC7_uc010jef.2_Missense_Mutation_p.E393K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.E8K|TRPC7_uc010jeh.2_Missense_Mutation_p.E396K|TRPC7_uc010jei.2_Missense_Mutation_p.E341K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	457					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCAGATTTCCTTGCATTCG	0.542000														33			8		0	0	0.000274275	0	0
NLRP10	338322	broad.mit.edu	37	11	7982175	7982175	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:7982175G>A	uc001mfv.1	-	1	1001	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	328	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCATCCGTGAAATAGGAGC	0.502000														75			13		0	0	0.00010058	0	0
CDH17	1015	broad.mit.edu	37	8	95201472	95201472	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95201472C>T	uc003ygh.2	-	2	218	c.93G>A	c.(91-93)ctG>ctA	p.L31L	CDH17_uc011lgo.1_Silent_p.L31L|CDH17_uc011lgp.1_Silent_p.L31L	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	31	Cadherin 1.					integral to membrane	calcium ion binding	p.L31Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCATGGGTTTCAGGGGTCCAC	0.393000														102			26		0	0	0.00058488	0	0
OR52I1	390037	broad.mit.edu	37	11	4616195	4616195	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:4616195G>A	uc010qyi.2	+	0	927	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGAATATGGAGTTATCTGA	0.463000														48			13		0	0	0.00010058	0	0
OR2G3	81469	broad.mit.edu	37	1	247769589	247769589	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:247769589G>A	uc010pyz.2	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGAGGCAAGGCACAAAGCCT	0.468000														26			6		0	0	3.59834e-05	0	0
ROS1	6098	broad.mit.edu	37	6	117686903	117686903	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:117686903C>T	uc003pxp.1	-	19	3012	c.2813_splice	c.e19-1	p.G938_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	938					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGAAAAGTTCCCTACAGGAT	0.318000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									7			6		0	0	3.59834e-05	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455280	4455280	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:4455280G>A	uc002fxz.4	-	7	980	c.918C>T	c.(916-918)ttC>ttT	p.F306F	MYBBP1A_uc002fyb.4_Silent_p.F306F	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	306	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CCAGCAGGCGGAAACACAGGT	0.642000														53			19		0	0	0.000295444	0	0
ODZ2	57451	broad.mit.edu	37	5	167631593	167631593	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:167631593C>T	uc010jjd.3	+	18	3764	c.3764C>T	c.(3763-3765)cCc>cTc	p.P1255L	ODZ2_uc003lzr.4_Missense_Mutation_p.P1032L|ODZ2_uc003lzt.4_Missense_Mutation_p.P628L|ODZ2_uc010jje.3_Missense_Mutation_p.P526L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CGCATCTTTCCCTCTCGAAAT	0.522000														47			13		0	0	0.000219431	0	0
HIBADH	11112	broad.mit.edu	37	7	27689129	27689130	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:27689129_27689130GG>TT	uc003szf.3	-	1	427_428	c.214_215CC>AA	c.(214-216)cct>AAt	p.P72N	HIBADH_uc003szg.3_Missense_Mutation_p.P23N|HIBADH_uc003szi.3_Missense_Mutation_p.P23N	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	72					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GCAGGCATCAGGGAACACATCA	0.356000														614			13		0	0	6.4e-05	0	0
CC2D2A	57545	broad.mit.edu	37	4	15512933	15512933	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:15512933G>A	uc010idv.2	+	8	849	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	CC2D2A_uc003gnx.3_Missense_Mutation_p.E153K|CC2D2A_uc003gnv.2_Missense_Mutation_p.E202K	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	202					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTTTGATCCCGAACCAGAAGG	0.463000														10			8		0	0	0.000157383	0	0
KANK4	163782	broad.mit.edu	37	1	62739653	62739653	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:62739653C>T	uc001dah.4	-	2	1500	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	375										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTGATTTCCTCTTCCTGCTGC	0.537000														80			20		0	0	0.000175454	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48807936	48807936	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:48807936C>T	uc002rwp.2	+	1	278	c.164C>T	c.(163-165)tCc>tTc	p.S55F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.S55F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.S55F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.S55F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.S55F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	55					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGGATCTTCCTCCACCAGC	0.468000														37			16		0	0	0.000566183	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145872	170145872	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:170145872C>T	uc003mas.3	+	2	734	c.205C>T	c.(205-207)Cga>Tga	p.R69*	KCNIP1_uc003map.3_Nonsense_Mutation_p.R67*|KCNIP1_uc003mat.3_Nonsense_Mutation_p.R58*|KCNIP1_uc010jjp.3_Nonsense_Mutation_p.R30*|KCNIP1_uc010jjq.3_Nonsense_Mutation_p.R58*	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	69	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.R69*(2)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCTTTATCGAGGCTTCAA	0.587000														37			15		0	0	0.000422831	0	0
BLM	641	broad.mit.edu	37	15	91292959	91292960	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:91292959_91292960GG>TT	uc002bpr.3	+	2	558_559	c.461_462GG>TT	c.(460-462)tgg>tTT	p.W154F	BLM_uc010uqh.2_Missense_Mutation_p.W154F|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.W154F	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	154					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATCAATGATTGGGATGATATGG	0.366000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					703			19		0	0	6.4e-05	0	0
TAOK1	57551	broad.mit.edu	37	17	27807479	27807479	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:27807479C>T	uc002hdz.2	+	6	737	c.543C>T	c.(541-543)tcC>tcT	p.S181S	TAOK1_uc010wbe.2_Silent_p.S181S|TAOK1_uc002heb.1_Silent_p.S7S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	181	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTGCCAATTCCTTTGTGGGAA	0.418000														24			20		0	0	0.000375601	0	0
KRT12	3859	broad.mit.edu	37	17	39022436	39022436	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:39022436C>T	uc002hvk.2	-	1	645	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	207	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)				CAGCTAGTCTCGCATTGTCAA	0.478000														66			7		0	0	0.000157383	0	0
ITSN1	6453	broad.mit.edu	37	21	35190728	35190729	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:35190728_35190729CC>AA	uc002yta.1	+	22	3153_3154	c.2885_2886CC>AA	c.(2884-2886)ccc>cAA	p.P962Q	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P841Q|ITSN1_uc002ysy.3_Missense_Mutation_p.P957Q|ITSN1_uc002ysx.3_Missense_Mutation_p.P920Q|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P957Q|ITSN1_uc010gmg.3_Missense_Mutation_p.P920Q|ITSN1_uc010gmh.3_Intron|ITSN1_uc002ysw.3_Missense_Mutation_p.P962Q|ITSN1_uc010gmi.3_Missense_Mutation_p.P925Q|ITSN1_uc002ytb.1_Missense_Mutation_p.P957Q|ITSN1_uc010gmk.3_Missense_Mutation_p.P925Q|ITSN1_uc010gml.3_Intron|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P957Q|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P896Q|ITSN1_uc021wip.1_Missense_Mutation_p.P851Q|ITSN1_uc002ytg.1_Missense_Mutation_p.P15Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	962	SH3 2.				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						GGTTGGTTCCCCAAGTCTTACG	0.386000														163			13		0	0	6.4e-05	0	0
UBE3A	7337	broad.mit.edu	37	15	25601904	25601905	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:25601904_25601905GG>TT	uc001zaq.3	-	8	2661_2662	c.1901_1902CC>AA	c.(1900-1902)ccc>cAA	p.P634Q	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.P611Q|UBE3A_uc001zas.3_Missense_Mutation_p.P631Q|UBE3A_uc001zat.3_Missense_Mutation_p.P611Q	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	634					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGACAACCATGGGAAAATGTAC	0.381000														294			8		0	0	6.4e-05	0	0
DIDO1	11083	broad.mit.edu	37	20	61512857	61512857	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:61512857T>G	uc002ydr.2	-	15	4763	c.4451A>C	c.(4450-4452)aAa>aCa	p.K1484T	DIDO1_uc002yds.2_Missense_Mutation_p.K1484T	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1484					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCGATCTGTTTGTTCAGCTC	0.627000														117			24		0	0	0.000375601	0	0
FAT4	79633	broad.mit.edu	37	4	126336764	126336764	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:126336764C>T	uc003ifj.4	+	4	6646	c.6646C>T	c.(6646-6648)Cct>Tct	p.P2216S	FAT4_uc011cgp.2_Missense_Mutation_p.P514S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2216	Cadherin 21.				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						TGTCGCTAAACCTTTGGATAG	0.463000														35			6		0	0	8.12818e-05	0	0
TPX2	22974	broad.mit.edu	37	20	30345338	30345338	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:30345338C>T	uc002wwp.1	+	2	757	c.59C>T	c.(58-60)tCa>tTa	p.S20L	TPX2_uc010gdv.1_Missense_Mutation_p.S20L	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	20					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCAATTTTTCATCCTTGGAT	0.403000														74			14		0	0	0.000308642	0	0
NFKB1	4790	broad.mit.edu	37	4	103459077	103459077	+	Silent	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:103459077T>G	uc011ceq.2	+	4	686	c.219T>G	c.(217-219)tcT>tcG	p.S73S	NFKB1_uc011cep.2_Silent_p.S74S	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	73	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|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTGGTGCCTCTAGTGAAAAGA	0.408000														17			11		0	0	6.40141e-05	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354372	96354372	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:96354372G>A	uc001tel.2	+	4	890	c.784G>A	c.(784-786)Gat>Aat	p.D262N	AMDHD1_uc009zth.2_Missense_Mutation_p.D153N	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	262					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTTCCATGGGGATGAACTCCA	0.408000														89			44		0	0	0.000147903	0	0
ZNF687	57592	broad.mit.edu	37	1	151262612	151262612	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:151262612C>A	uc001exq.3	+	6	3077	c.2979C>A	c.(2977-2979)ttC>ttA	p.F993L	ZNF687_uc009wmo.3_Missense_Mutation_p.F993L|ZNF687_uc009wmp.3_Missense_Mutation_p.F993L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	993					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAAAAGTTCCCCTGTCGCC	0.612000														50			15		6.33239e-15	1.08857e-13	0.000175454	1	0
RASGRF1	5923	broad.mit.edu	37	15	79265721	79265721	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:79265721G>A	uc002beq.3	-	25	3959	c.3584C>T	c.(3583-3585)aCc>aTc	p.T1195I	RASGRF1_uc002bep.3_Missense_Mutation_p.T1179I|RASGRF1_uc002beo.3_Missense_Mutation_p.T411I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	1197	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCAGGTCGGTGAGGTACAT	0.527000														40			8		0	0	0.000274275	0	0
FARP1	10160	broad.mit.edu	37	13	99063075	99063075	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:99063075T>C	uc001vnh.3	+	14	1929	c.1690T>C	c.(1690-1692)Tcg>Ccg	p.S564P	FARP1_uc001vnj.3_Missense_Mutation_p.S564P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	564	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	p.S564L(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTTATCACTTCGGTATGTGC	0.423000														19			3		0	0	6.4e-05	0	0
MLL3	58508	broad.mit.edu	37	7	151880143	151880144	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:151880143_151880144GG>TT	uc003wla.3	-	34	5399_5400	c.5180_5181CC>AA	c.(5179-5181)ccc>cAA	p.P1727Q	MLL3_uc003wkz.3_Missense_Mutation_p.P788Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1727	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TACGAGAGCTGGGATCAATGCT	0.371000			N		medulloblastoma									467			15		0	0	6.4e-05	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155249	38155249	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:38155249T>C	uc003atr.3	+	16	6573	c.6302T>C	c.(6301-6303)aTc>aCc	p.I2101T	TRIOBP_uc003atu.3_Missense_Mutation_p.I1929T|TRIOBP_uc003atv.3_Missense_Mutation_p.I388T|TRIOBP_uc003atw.3_Missense_Mutation_p.I388T|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.3_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	2101					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GATGGCCACATCCCCCCGGGC	0.602000														21			4		0	0	0.00024832	0	0
HEATR1	55127	broad.mit.edu	37	1	236739525	236739525	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:236739525G>C	uc001hyd.2	-	21	3230	c.3078C>G	c.(3076-3078)aaC>aaG	p.N1026K	HEATR1_uc009xgh.2_Missense_Mutation_p.N269K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1026					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATACCTCACCGTTGACTCCCT	0.363000														102			31		0	0	0.000409698	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944918	47944918	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:47944918G>A	uc003tny.2	-	10	1561	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	509	PKD 1.				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						TGTAGACAGAGACGGCTGTGG	0.443000														47			56		0	0	0.000147903	0	0
KIAA0564	23078	broad.mit.edu	37	13	42273273	42273273	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:42273273G>A	uc001uyj.3	-	28	3568	c.3498C>T	c.(3496-3498)caC>caT	p.H1166H		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1166						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TCACAAAAGGGTGCCAAACGC	0.473000														48			7		0	0	8.12818e-05	0	0
E2F3	1871	broad.mit.edu	37	6	20490578	20490579	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:20490578_20490579GG>TT	uc003nda.2	+	6	1642_1643	c.1315_1316GG>TT	c.(1315-1317)ggg>TTg	p.G439L	E2F3_uc021ymj.1_Missense_Mutation_p.G308L	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	439	Retinoblastoma protein binding (Potential).|Transactivation (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)			CCTGAGCCTCGGGGAGGAGGAA	0.500000														355			10		0	0	6.4e-05	0	0
DHTKD1	55526	broad.mit.edu	37	10	12133596	12133597	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:12133596_12133597GG>TT	uc001ild.4	+	5	1171_1172	c.1072_1073GG>TT	c.(1072-1074)ggg>TTg	p.G358L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	358					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CAGAATTGGTGGGAGTGTGCAT	0.441000														355			13		0	0	6.4e-05	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696041	222696042	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:222696041_222696042GG>TT	uc001hnh.1	-	8	2134_2135	c.2076_2077CC>AA	c.(2074-2079)ccccac>ccAAac	p.H693N		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	693					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGCGGACGTGGGGCCCCACTC	0.564000														383			15		0	0	6.4e-05	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30690047	30690047	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:30690047G>A	uc010gvu.3	-	6	864	c.779C>T	c.(778-780)tCg>tTg	p.S260L	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Missense_Mutation_p.S111L|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc003ahk.4_Missense_Mutation_p.S253L	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	253	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGCCACCGGCGACACCTTCTG	0.612000														51			38		0	0	0.000228196	0	0
APOB	338	broad.mit.edu	37	2	21235357	21235358	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:21235357_21235358CC>AA	uc002red.3	-	25	4510_4511	c.4382_4383GG>TT	c.(4381-4383)tgg>tTT	p.W1461F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1461					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGTGGTCCCCAGGAACTAGA	0.381000														312			11		0	0	6.4e-05	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669672	131669672	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:131669672C>T	uc004bwl.4	+	2	483	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	LRRC8A_uc010myp.3_Missense_Mutation_p.P77S|LRRC8A_uc010myq.3_Missense_Mutation_p.P77S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	77					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCCCTGGCCCGGAGCCCAC	0.612000														29			6		0	0	8.12818e-05	0	0
NAIP	4671	broad.mit.edu	37	5	70308413	70308413	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:70308413C>T	uc003kar.1	-	3	1048	c.330G>A	c.(328-330)acG>acA	p.T110T	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.T110T|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	110					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGGGAGTCTCGTGAGGCCGG	0.493000														60			14		0	0	0.000151284	0	0
DBR1	51163	broad.mit.edu	37	3	137892381	137892382	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:137892381_137892382GG>TT	uc003erv.3	-	1	438_439	c.284_285CC>AA	c.(283-285)ccc>cAA	p.P95Q	DBR1_uc003eru.3_Missense_Mutation_p.P44Q	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	95						nucleus	RNA lariat debranching enzyme activity|metal ion binding	p.P95P(2)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCCACCATAGGGTAACTCTTG	0.421000														469			15		0	0	6.4e-05	0	0
IKBKB	3551	broad.mit.edu	37	8	42178259	42178259	+	Missense_Mutation	SNP	G	A	A	rs147186110		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:42178259G>A	uc003xow.2	+	15	1771	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	IKBKB_uc010lxh.2_3'UTR|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Missense_Mutation_p.E250K|IKBKB_uc010lxj.2_Missense_Mutation_p.E306K|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.E527K|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.E470K	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	529					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TTAGGAGAACGAAGTGAAACT	0.567000														69			48		0	0	0.000147903	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013163	73013163	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:73013163C>T	uc003hgg.2	+	3	1301	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y	NPFFR2_uc010iig.2_Silent_p.Y183Y|NPFFR2_uc003hgi.2_Silent_p.Y302Y|NPFFR2_uc003hgh.2_Silent_p.Y299Y	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	401					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTCAGACTACGCTGACCTTT	0.468000														30			27		0	0	9.22233e-05	0	0
TRPV6	55503	broad.mit.edu	37	7	142569526	142569526	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:142569526C>T	uc003wbx.2	-	14	2341	c.2112G>A	c.(2110-2112)agG>agA	p.R704R	TRPV6_uc003wbw.1_Silent_p.R490R|TRPV6_uc010lou.1_Silent_p.R575R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	704	Interaction with calmodulin.				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)					GCAGGTCTCTCCTCAGGGTCC	0.577000														80			14		0	0	0.000219431	0	0
LPA	4018	broad.mit.edu	37	6	160962176	160962176	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:160962176G>A	uc003qtl.3	-	35	5677	c.5557C>T	c.(5557-5559)Cca>Tca	p.P1853S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4361	Kringle 17.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACCCACTCTGGGGATATTAAG	0.443000														53			17		0	0	0.000375601	0	0
ADCK4	79934	broad.mit.edu	37	19	41198219	41198219	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:41198219C>T	uc002oor.2	-	14	1658	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	NUMBL_uc010xvq.2_5'Flank|NUMBL_uc010xvr.2_5'Flank|NUMBL_uc002oon.3_5'Flank|NUMBL_uc002ooo.3_5'Flank|ADCK4_uc002oop.1_Silent_p.Q129Q|ADCK4_uc002ooq.2_Silent_p.Q411Q	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	452						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CATAAGGGCCCTGGGTGGCGA	0.672000														23			4		0	0	8.12818e-05	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083865	8083865	+	Silent	SNP	G	A	A	rs150412980		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:8083865G>A	uc001qtr.3	-	3	748	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	162					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCCAACAACGATGCCCAGCT	0.478000														19			25		0	0	0.000117367	0	0
ECT2L	345930	broad.mit.edu	37	6	139167770	139167771	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:139167770_139167771CG>AT	uc003qif.2	+	7	1184_1185	c.859_860CG>AT	c.(859-861)cgg>ATg	p.R287M	ECT2L_uc021zfx.1_Missense_Mutation_p.R287M|ECT2L_uc011edq.1_Missense_Mutation_p.R218M	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	287					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATATGCTCTCCGGCCACACTTC	0.376000			"""N, Splice, Mis"""		ETP ALL									365			14		0	0	6.4e-05	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43933554	43933555	+	Splice_Site	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:43933554_43933555GG>TT	uc010yny.2	+	10	1904	c.1821_splice	c.e10+1	p.G607_splice	PLEKHH2_uc002rte.3_Splice_Site_p.G607_splice|PLEKHH2_uc002rtf.3_Splice_Site_p.G606_splice	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	607						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTTTGAAGGGGGTAACTCATT	0.361000														336			11		0	0	6.4e-05	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965207	88965207	+	Missense_Mutation	SNP	G	A	A	rs141578416		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:88965207G>A	uc011khi.2	+	3	3449	c.2911G>A	c.(2911-2913)Ggc>Agc	p.G971S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	971						intracellular	zinc ion binding	p.G971R(2)|p.G971G(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCACCATCAGGCTGTAACAG	0.403000										HNSCC(36;0.09)				46			37		0	0	0.000509022	0	0
FBXO42	54455	broad.mit.edu	37	1	16577258	16577258	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:16577258T>C	uc001ayg.3	-	9	2277	c.2061A>G	c.(2059-2061)gaA>gaG	p.E687E	FBXO42_uc001ayf.3_Silent_p.E594E	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	687										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ATATGATGAGTTCACCCCTGC	0.448000														129			33		0	0	0.000132358	0	0
BDP1	55814	broad.mit.edu	37	5	70806707	70806708	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:70806707_70806708CC>AA	uc003kbp.1	+	16	4051_4052	c.3788_3789CC>AA	c.(3787-3789)ccc>cAA	p.P1263Q	BDP1_uc003kbn.1_Missense_Mutation_p.P1263Q|BDP1_uc003kbo.3_Missense_Mutation_p.P1263Q	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1263	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGAGACATTCCCATCATGGAGA	0.376000														289			9		0	0	6.4e-05	0	0
PRDM12	59335	broad.mit.edu	37	9	133543670	133543670	+	Silent	SNP	C	T	T	rs145300834	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:133543670C>T	uc004bzt.1	+	2	600	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	180	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I180I(2)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGGTCCAGATCGGCACCAGCA	0.587000														50			7		0	0	0.000274275	0	0
CDH9	1007	broad.mit.edu	37	5	26916004	26916004	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:26916004C>A	uc003jgs.1	-	2	426	c.257G>T	c.(256-258)gGa>gTa	p.G86V	CDH9_uc010iug.3_Missense_Mutation_p.G86V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	86	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D85D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTAAATTTCCATCTCCTTT	0.338000														65			12		1.52009e-12	2.60625e-11	0.000308642	1	0
RDBP	7936	broad.mit.edu	37	6	31922858	31922859	+	Missense_Mutation	DNP	GG	TT	TT	rs138737372		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31922858_31922859GG>TT	uc003nyk.3	-	5	585_586	c.381_382CC>AA	c.(379-384)ccccag>ccAAag	p.Q128K	RDBP_uc011dot.2_Missense_Mutation_p.Q128K|RDBP_uc021yvb.1_Missense_Mutation_p.Q128K	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	128					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						GATTTCCTCTGGGGACGTCTGG	0.455000														485			10		0	0	6.4e-05	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553733	72553734	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:72553733_72553734GG>TT	uc009ytl.3	-	16	2079_2080	c.1858_1859CC>AA	c.(1858-1860)cca>AAa	p.P620K	FCHSD2_uc010rrg.2_Missense_Mutation_p.P484K|FCHSD2_uc001oth.4_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.2_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	620	SH3 2.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCACCGATGGGAAAACTCCA	0.441000														533			16		0	0	6.4e-05	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141106	143141106	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:143141106C>T	uc011ktg.2	+	0	561	c.561C>T	c.(559-561)agC>agT	p.S187S	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	187					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.R186R(1)|p.R186Q(1)|p.R186L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCATACGGAGCTACTGTGAGA	0.398000														182			17		0	0	7.07596e-05	0	0
AP4B1	10717	broad.mit.edu	37	1	114442839	114442839	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:114442839G>A	uc001eeb.3	-	4	987	c.801C>T	c.(799-801)ccC>ccT	p.P267P	LOC100287722_uc001edv.1_Non-coding_Transcript|AP4B1_uc001eec.3_Silent_p.P99P|AP4B1_uc010owp.2_Silent_p.P168P|AP4B1_uc001eed.3_Silent_p.P267P|AP4B1_uc001eea.1_Silent_p.P61P|AP4B1_uc010owq.2_Silent_p.P174P	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	267					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGTACGTGGGGAAACATTT	0.468000														63			11		0	0	3.86212e-05	0	0
ODF2	4957	broad.mit.edu	37	9	131262469	131262470	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:131262469_131262470GG>TT	uc004bvc.3	+	20	2703_2704	c.2617_2618GG>TT	c.(2617-2619)ggg>TTg	p.G873L	ODF2_uc004bvb.3_Missense_Mutation_p.G785L|ODF2_uc011mbd.2_Missense_Mutation_p.G809L|ODF2_uc011mbe.2_Missense_Mutation_p.G804L|ODF2_uc004bvd.4_Missense_Mutation_p.G809L|ODF2_uc004bvh.3_Missense_Mutation_p.G215L	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	809					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.G809W(1)|p.G785W(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAACGTGTTTGGGGATGGTCCC	0.574000														140			7		0	0	6.4e-05	0	0
FLNC	2318	broad.mit.edu	37	7	128496603	128496603	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:128496603C>T	uc003vnz.4	+	43	7492	c.7283C>T	c.(7282-7284)tCc>tTc	p.S2428F	FLNC_uc003voa.4_Missense_Mutation_p.S2395F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2428	Interaction with INPPL1.				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						CAGCCAGCGTCCTTTGCCGTG	0.652000														47			6		0	0	0.000274275	0	0
TM2D3	80213	broad.mit.edu	37	15	102191909	102191910	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:102191909_102191910GG>TT	uc002bxi.3	-	1	188_189	c.158_159CC>AA	c.(157-159)ccc>cAA	p.P53Q	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.3_5'Flank|TM2D3_uc002bxj.3_Intron|TM2D3_uc010ush.1_Missense_Mutation_p.P53Q	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.	53						integral to membrane		p.P53L(2)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCTGCCCTGGGAACTACTGT	0.401000														347			10		0	0	6.4e-05	0	0
USP29	57663	broad.mit.edu	37	19	57641395	57641395	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:57641395A>C	uc002qny.3	+	3	1708	c.1352A>C	c.(1351-1353)aAt>aCt	p.N451T	USP29_uc021vci.1_Missense_Mutation_p.N451T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	451					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.N451N(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTAGAACCTAATAATTATCTC	0.358000														159			35		0	0	0.000228196	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	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														37			7		0	0	0.000157383	0	0
C5orf58	133874	broad.mit.edu	37	5	169661161	169661161	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:169661161C>T	uc010jjn.3	+	1	105	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	C5orf58_uc003mal.2_Non-coding_Transcript	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN	Homo sapiens chromosome 5 open reading frame 58 (C5orf58), mRNA.	8										large_intestine(1)|lung(4)|urinary_tract(1)	6						TGCAGAAATTCTCCCTGCTCA	0.408000														74			20		0	0	0.000175454	0	0
ADAM29	11086	broad.mit.edu	37	4	175897101	175897101	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:175897101C>T	uc003iuc.3	+	4	1095	c.425C>T	c.(424-426)tCt>tTt	p.S142F	ADAM29_uc003iud.3_Missense_Mutation_p.S142F|ADAM29_uc010irr.3_Missense_Mutation_p.S142F|ADAM29_uc011cki.2_Missense_Mutation_p.S142F|ADAM29_uc021xuo.1_Missense_Mutation_p.S142F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	142					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTAGCATTTTCTACCACGTTT	0.398000														21			10		0	0	3.86212e-05	0	0
C6orf10	10665	broad.mit.edu	37	6	32261036	32261037	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:32261036_32261037GG>TT	uc021yvt.1	-	22	1586_1587	c.1413_1414CC>AA	c.(1411-1416)tcccaa>tcAAaa	p.Q472K	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.Q389K|C6orf10_uc011dpz.2_Missense_Mutation_p.Q470K|C6orf10_uc021yvu.1_Missense_Mutation_p.Q470K|C6orf10_uc021yvv.1_Missense_Mutation_p.Q456K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	472						integral to membrane		p.Q472K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTCTTTACTTGGGATTCCAGTG	0.416000														198			10		0	0	6.4e-05	0	0
ZNF425	155054	broad.mit.edu	37	7	148802118	148802118	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:148802118G>A	uc003wfj.3	-	3	978	c.845C>T	c.(844-846)aCc>aTc	p.T282I		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	282					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTACCGGAAGGTCTTGTCGCA	0.637000														29			14		0	0	0.000308642	0	0
abParts	0	broad.mit.edu	37	2	90249191	90249191	+	RNA	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:90249191G>A	uc010yts.2	+	39		c.5026G>A								Parts of antibodies, mostly variable regions.																		GGGCCAGTCAGGGCATTAGCA	0.498000														57			21		0	0	0.000229342	0	0
GCK	2645	broad.mit.edu	37	7	44189372	44189372	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:44189372G>A	uc003tkl.2	-	5	1136	c.666C>T	c.(664-666)gtC>gtT	p.V222V	GCK_uc003tkj.1_Silent_p.V221V|GCK_uc003tkk.1_Silent_p.V223V	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	222					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.V223V(1)|p.C221C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGATCATGCCGACCTCGCACT	0.577000														204			118		0	0	0.000147903	0	0
PLCB4	5332	broad.mit.edu	37	20	9388582	9388582	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:9388582G>A	uc021wam.1	+	17	1645	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	PLCB4_uc010gbw.1_Missense_Mutation_p.D544N|PLCB4_uc010gbx.3_Missense_Mutation_p.D556N|PLCB4_uc021wal.1_Missense_Mutation_p.D544N|PLCB4_uc002wnh.3_Missense_Mutation_p.D391N	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	544					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CACTGTAGAAGATGAGCAGGC	0.428000														84			18		0	0	0.000229342	0	0
SETBP1	26040	broad.mit.edu	37	18	42643219	42643219	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:42643219C>T	uc010dni.3	+	5	4643	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1449						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCAACAACTTCGTGAAGAAGA	0.547000									Schinzel-Giedion syndrome					9			6		0	0	3.59834e-05	0	0
KDM3B	51780	broad.mit.edu	37	5	137726914	137726914	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:137726914C>T	uc003lcy.1	+	7	1793	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	KDM3B_uc010jew.1_Silent_p.S187S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	531					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AATGCATGTCCCAAACTTTAC	0.428000														39			15		0	0	0.000422831	0	0
ZNF792	126375	broad.mit.edu	37	19	35450222	35450222	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:35450222C>G	uc002nxh.1	-	3	924	c.537G>C	c.(535-537)caG>caC	p.Q179H		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCTGCTGCACCTGTTTCCGGG	0.517000														230			7		0	0	3.86212e-05	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281176	49281176	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:49281176G>A	uc010acw.1	+	1	513	c.223G>A	c.(223-225)Gtt>Att	p.V75I	CYSLTR2_uc010acx.1_Missense_Mutation_p.V75I|CYSLTR2_uc010acy.1_Missense_Mutation_p.V75I|CYSLTR2_uc010acz.1_Missense_Mutation_p.V75I|CYSLTR2_uc010ada.1_Missense_Mutation_p.V75I|CYSLTR2_uc010adb.1_Missense_Mutation_p.V75I|CYSLTR2_uc010adc.1_Missense_Mutation_p.V75I|CYSLTR2_uc010add.1_Missense_Mutation_p.V75I|CYSLTR2_uc001vck.2_Missense_Mutation_p.V75I|CYSLTR2_uc021rjl.1_Missense_Mutation_p.V75I	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	75					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATCTGTGAACGTTTTCATGCT	0.408000														29			10		0	0	0.00010058	0	0
ZNF335	63925	broad.mit.edu	37	20	44592254	44592255	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:44592254_44592255GG>TT	uc002xqw.3	-	8	1513_1514	c.1390_1391CC>AA	c.(1390-1392)ccc>AAc	p.P464N	ZNF335_uc010zxk.2_Missense_Mutation_p.P309N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCACAGGAAGGGCCTCAAAAGT	0.574000														64			48		0	0	6.4e-05	0	0
FBXL6	26233	broad.mit.edu	37	8	145580326	145580326	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:145580326G>A	uc003zcb.3	-	5	1003	c.927C>T	c.(925-927)atC>atT	p.I309I	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Silent_p.I36I|FBXL6_uc003zca.3_Silent_p.I303I|FBXL6_uc010mfx.3_Silent_p.I70I|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	309					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TATTACGGTTGATGCCGGTGC	0.652000														101			11		0	0	6.40141e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	71007785	71007785	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:71007785G>A	uc002ezr.3	-	33	5324	c.5173C>T	c.(5173-5175)Cat>Tat	p.H1725Y		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1726										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTTGGAGATGATTGGAAAGC	0.488000														81			15		0	0	0.000566183	0	0
NLRP12	91662	broad.mit.edu	37	19	54314534	54314534	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:54314534C>T	uc002qcj.4	-	2	599	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E127K|NLRP12_uc002qci.4_Missense_Mutation_p.E127K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E127K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	127					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	p.E127K(2)		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)		CTGTAGGTTTCCTGGGGATCT	0.542000														77			13		0	0	0.000308642	0	0
FER1L6	654463	broad.mit.edu	37	8	124987451	124987451	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:124987451C>T	uc003yqw.3	+	7	794	c.588C>T	c.(586-588)acC>acT	p.T196T		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	196						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGACTGGCACCAAGGGGTACC	0.502000														73			35		0	0	0.000228196	0	0
PRR23B	389151	broad.mit.edu	37	3	138739223	138739223	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:138739223C>T	uc003esy.1	-	0	546	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	94										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGTGTGTCCACCGAGAGA	0.662000														21			27		0	0	0.000184323	0	0
NEB	4703	broad.mit.edu	37	2	152404847	152404847	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:152404847C>T	uc021vrb.1	-	101	15058	c.15029G>A	c.(15028-15030)cGg>cAg	p.R5010Q	NEB_uc002txr.3_Missense_Mutation_p.R1476Q|NEB_uc002txu.3_Missense_Mutation_p.R6711Q|NEB_uc021vrc.1_Missense_Mutation_p.R6711Q|NEB_uc010fnx.3_Missense_Mutation_p.R4998Q|NEB_uc021vrd.1_Missense_Mutation_p.R5010Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5010					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)		GTTGACTCTCCGGACGTGGAC	0.423000														32			40		0	0	0.000589545	0	0
HMGCR	3156	broad.mit.edu	37	5	74645866	74645868	+	Splice_Site	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:74645866_74645868GG>TT	uc011cst.2	+	7	869	c.617_splice	c.e7-1	p.G206_splice	HMGCR_uc003kdp.3_Splice_Site_p.G186_splice|HMGCR_uc003kdq.3_Splice_Site_p.G186_splice|HMGCR_uc010izn.1_Splice_Site_p.G26_splice	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	186					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTCTAACCAGGGGTACGTCAGC	0.389000														494			13		0	0	6.4e-05	0	0
C6orf15	29113	broad.mit.edu	37	6	31079247	31079247	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31079247G>A	uc003nsk.1	-	1	889	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	297	Pro-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACTCCAGGAGGAAATGGGTTA	0.522000														38			18		0	0	7.07596e-05	0	0
ZNF711	7552	broad.mit.edu	37	X	84526058	84526058	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:84526058C>T	uc004eeq.3	+	9	2534	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	ZNF711_uc004eep.3_Missense_Mutation_p.P504S|ZNF711_uc004eeo.3_Missense_Mutation_p.P504S|ZNF711_uc011mqy.1_Missense_Mutation_p.P103S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	504					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAAGAATTTTCCTCATGTTTG	0.433000														1			6		0	0	8.12818e-05	0	0
SLIT3	6586	broad.mit.edu	37	5	168212958	168212958	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:168212958C>T	uc010jjg.3	-	11	1525	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	SLIT3_uc003mab.3_Missense_Mutation_p.E369K|SLIT3_uc010jji.2_Missense_Mutation_p.E369K|SLIT3_uc003mac.1_Missense_Mutation_p.E166K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	369					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGACAATCTCGGTGATCTTG	0.522000														36			8		0	0	0.000274275	0	0
KRT2	3849	broad.mit.edu	37	12	53040562	53040562	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:53040562G>A	uc001sat.3	-	6	1464	c.1431C>T	c.(1429-1431)atC>atT	p.I477I		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	477	Coil 2.|Rod.		I -> N (in IBS).		keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GGTAGGTGGCGATCTCCACAT	0.637000														50			31		0	0	0.000228196	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15028247	15028247	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrY:15028247G>A	uc004fsu.1	+	13	1693	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	DDX3Y_uc004fsv.2_Missense_Mutation_p.E462K|DDX3Y_uc010nww.1_Missense_Mutation_p.E278K|DDX3Y_uc011nar.1_Missense_Mutation_p.E459K	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.	462	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTTATACCATGAAGGATATGC	0.438000														17			10		0	0	3.86212e-05	0	0
PITPNM2	57605	broad.mit.edu	37	12	123497242	123497242	+	Silent	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:123497242A>T	uc001uej.1	-	3	532	c.333T>A	c.(331-333)atT>atA	p.I111I	PITPNM2_uc001uek.1_Silent_p.I111I|PITPNM2_uc009zxu.1_Silent_p.I111I|MIR4304_uc021rfr.1_5'Flank	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	111					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AAAAGGTTTCAATGTCGATGG	0.502000														59			73		0	0	0.000147903	0	0
CBS	875	broad.mit.edu	37	21	44488672	44488673	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:44488672_44488673GG>TT	uc002zcu.2	-	3	507_508	c.262_263CC>AA	c.(262-264)cct>AAt	p.P88N	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Missense_Mutation_p.P88N|CBS_uc002zcw.3_Missense_Mutation_p.P88N|CBS_uc002zcv.2_Missense_Mutation_p.P88N	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	88			P -> S (in CBSD).		L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCTGACCATAGGGGTGTCCCCG	0.450000														300			11		0	0	6.4e-05	0	0
SCAND3	114821	broad.mit.edu	37	6	28539813	28539813	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:28539813T>C	uc003nlo.3	-	3	4471	c.3853A>G	c.(3853-3855)Agt>Ggt	p.S1285G		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1285					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttaataacacttaaagtagag	0.348000														35			15		0	0	0.000422831	0	0
KNG1	3827	broad.mit.edu	37	3	186445073	186445073	+	Silent	SNP	G	A	A	rs142183659		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:186445073G>A	uc011bsa.2	+	4	846	c.612G>A	c.(610-612)acG>acA	p.T204T	KNG1_uc003fqr.3_Silent_p.T204T|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	204	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTGTGCAAACGAATTGTTCCA	0.348000														118			21		0	0	0.000295444	0	0
BIRC6	57448	broad.mit.edu	37	2	32712717	32712717	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:32712717C>T	uc010ezu.3	+	40	7951	c.7817C>T	c.(7816-7818)tCa>tTa	p.S2606L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2606					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTTCAGTATCACAGTCTCCC	0.318000														61			18		0	0	0.000295444	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48807961	48807961	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:48807961C>T	uc002rwp.2	+	1	303	c.189C>T	c.(187-189)tcC>tcT	p.S63S	STON1-GTF2A1L_uc021vhf.1_Silent_p.S63S|STON1-GTF2A1L_uc002rwo.4_Silent_p.S63S|STON1-GTF2A1L_uc010fbm.3_Silent_p.S63S|STON1-GTF2A1L_uc010yol.2_Silent_p.S63S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	63					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCCTCTCTCCTCCCCCATTG	0.493000														52			25		0	0	0.000117367	0	0
FNDC1	84624	broad.mit.edu	37	6	159651016	159651016	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:159651016C>T	uc010kjv.3	+	9	1550	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	FNDC1_uc010kjw.1_Intron	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	450	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCAAAGCCTTCATTGTCGCTA	0.488000														141			37		0	0	0.000319135	0	0
THADA	63892	broad.mit.edu	37	2	43808935	43808936	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:43808935_43808936GG>TT	uc002rsw.4	-	7	1017_1018	c.665_666CC>AA	c.(664-666)ccc>cAA	p.P222Q	THADA_uc002rsx.4_Missense_Mutation_p.P222Q|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.P222Q|THADA_uc002rtc.4_Missense_Mutation_p.P222Q|THADA_uc002rtd.3_Missense_Mutation_p.P222Q	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	222							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTGCCATATGGGAGAATCGGA	0.337000														569			20		0	0	6.4e-05	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716751	13716751	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:13716751C>T	uc001rbt.2	-	12	3600	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1141					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)	GGTGAGTTCTCCTTTGTTCGG	0.612000														8			13		0	0	0.000308642	0	0
ARFIP2	23647	broad.mit.edu	37	11	6499989	6499989	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:6499989G>A	uc001mdk.3	-	4	767	c.516C>T	c.(514-516)agC>agT	p.S172S	ARFIP2_uc010ran.2_Silent_p.S205S|ARFIP2_uc010ral.2_Silent_p.S134S|ARFIP2_uc010ram.2_Silent_p.S87S|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank	NM_012402	NP_001229784	P53365	ARFP2_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 2, mRNA.	172	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGACTTCTGGCTGAGGTCAG	0.622000														19			4		0	0	0.000602214	0	0
RIF1	55183	broad.mit.edu	37	2	152300166	152300166	+	Silent	SNP	G	A	A	rs140493456	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:152300166G>A	uc002txm.3	+	17	2090	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E	RIF1_uc010fnv.2_Silent_p.E607E|RIF1_uc002txn.3_Silent_p.E643E|RIF1_uc002txl.3_Silent_p.E643E|RIF1_uc002txo.3_Silent_p.E643E	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	643					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATAAGGAGCATCTCTGGA	0.348000														60			91		0	0	0.000147903	0	0
KIAA1009	22832	broad.mit.edu	37	6	84883856	84883856	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:84883856C>T	uc010kbp.3	-	15	2174	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	KIAA1009_uc003pkj.4_Missense_Mutation_p.E617K|KIAA1009_uc003pki.4_Missense_Mutation_p.E79K	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	693					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCAGCTGCTTCTCCAAAATGT	0.358000														7			12		0	0	6.40141e-05	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247925	43247925	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:43247925G>A	uc002lbe.3	+	13	2661	c.1845G>A	c.(1843-1845)gcG>gcA	p.A615A	SLC14A2_uc010dnj.3_Silent_p.A615A	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	615						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.A615V(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGTGGGCGATCTCAGGCT	0.562000														50			15		0	0	0.000422831	0	0
SYNE1	23345	broad.mit.edu	37	6	152786511	152786511	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:152786511C>T	uc021zhb.1	-	15	2037	c.1814G>A	c.(1813-1815)aGg>aAg	p.R605K	SYNE1_uc003qot.4_Missense_Mutation_p.R612K|SYNE1_uc003qou.4_Missense_Mutation_p.R605K|SYNE1_uc010kjb.1_Missense_Mutation_p.R588K|SYNE1_uc003qpa.1_Missense_Mutation_p.R605K|SYNE1_uc003qow.3_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.R121K|SYNE1_uc003qoz.2_Missense_Mutation_p.R37K|SYNE1_uc003qoy.2_Missense_Mutation_p.R172K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	605					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCATGCTCCTCACACTCCT	0.448000										HNSCC(10;0.0054)				19			8		0	0	0.000274275	0	0
PRSS58	136541	broad.mit.edu	37	7	141955469	141955469	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:141955469T>C	uc003vxb.3	-	1	385	c.65A>G	c.(64-66)tAc>tGc	p.Y22C	PRSS58_uc003vxc.4_Missense_Mutation_p.Y22C	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	22	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCTGACTGTGTAATCTGGATT	0.448000														20			4		0	0	0.00024832	0	0
ABCA4	24	broad.mit.edu	37	1	94476861	94476861	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:94476861G>A	uc001dqh.3	-	38	5645	c.5541C>T	c.(5539-5541)gaC>gaT	p.D1847D	ABCA4_uc001dqi.1_5'Flank|ABCA4_uc009wdp.1_Silent_p.D115D	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1847					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGTGCAAGGTCAATGAGGC	0.602000														69			9		0	0	0.000274275	0	0
OTOP2	92736	broad.mit.edu	37	17	72926570	72926570	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:72926570C>T	uc010wrp.2	+	5	932	c.840C>T	c.(838-840)acC>acT	p.T280T		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	280						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ACACCCCAACCCCTGTCAGCC	0.582000														44			33		0	0	0.000132358	0	0
ABCC8	6833	broad.mit.edu	37	11	17464857	17464857	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:17464857G>A	uc001mnc.3	-	8	1461	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	ABCC8_uc010rcy.1_Silent_p.I444I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	445	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACCCACAATGATCTGAGGAA	0.537000														114			38		0	0	0.000374591	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764350	109764350	+	RNA	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:109764350T>A	uc004eos.1	+	0		c.811T>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		CCCTAATTGTTAAAAGCTATG	0.433000														36			11		0	0	0.000219431	0	0
ARID4A	5926	broad.mit.edu	37	14	58832861	58832862	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:58832861_58832862CC>AA	uc001xdp.3	+	21	3690_3691	c.3436_3437CC>AA	c.(3436-3438)ccg>AAg	p.P1146K	ARID4A_uc001xdo.3_Intron|ARID4A_uc001xdq.3_Intron	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1146					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P1146Q(3)|p.P1146P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGAATATCCCCGCACATCAAA	0.396000														281			9		0	0	6.4e-05	0	0
NBPF1	55672	broad.mit.edu	37	1	16914222	16914224	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:16914222_16914224GG>TT	uc009vos.1	-	9	1450_1452	c.562_564CC>AA	c.(562-564)ccc>AA	p.P188del	NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	188	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGTTACCTGGGGGCAGATGAT	0.443000														603			14		0	0	6.4e-05	0	0
LMO2	4005	broad.mit.edu	37	11	33880940	33880940	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:33880940C>T	uc001mve.3	-	2	878	c.439G>A	c.(439-441)Gac>Aac	p.D147N	LMO2_uc001mvc.3_Missense_Mutation_p.D140N|LMO2_uc001mvd.3_Missense_Mutation_p.D140N|LMO2_uc010rel.2_Missense_Mutation_p.D147N|LMO2_uc010rem.2_Missense_Mutation_p.D216N	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	147	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.D147V(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCGTAGATGTCCTGTTCGCAC	0.502000			T	TRD@	T-ALL									42			25		0	0	0.000279167	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871668	63871668	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:63871668A>C	uc003jtj.3	+	2	400	c.400A>C	c.(400-402)Atg>Ctg	p.M134L	RGS7BP_uc011cqu.2_Missense_Mutation_p.M1L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	134					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CTGCTTAGAAATGTATACCAC	0.428000														45			15		0	0	0.000422831	0	0
ATXN7	6314	broad.mit.edu	37	3	63975917	63975917	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:63975917C>T	uc003dlv.3	+	9	1980	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	ATXN7_uc003dlw.4_Missense_Mutation_p.S476F|ATXN7_uc021wzy.1_Missense_Mutation_p.S476F|ATXN7_uc011bfn.2_Missense_Mutation_p.S331F	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	476	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTCCATGAATCTCCACACCCT	0.567000														37			7		0	0	0.000157383	0	0
C9orf174	100499483	broad.mit.edu	37	9	100116955	100116955	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:100116955T>C	uc011lut.2	+	36	4662	c.3656T>C	c.(3655-3657)aTg>aCg	p.M1219T	C9orf174_uc004axe.2_Missense_Mutation_p.M1051T|C9orf174_uc011lus.2_Missense_Mutation_p.M869T|C9orf174_uc004axg.2_Missense_Mutation_p.M1080T|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1210						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						AGTGTCATCATGCTCAACATG	0.522000														50			19		0	0	0.000132079	0	0
DOCK3	1795	broad.mit.edu	37	3	51411906	51411906	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:51411906C>T	uc011bds.2	+	49	5323	c.5300C>T	c.(5299-5301)cCc>cTc	p.P1767L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1767	Ser-rich.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACAGGCTCTCCCTCTCTGCCA	0.552000														7			4		0	0	0.00024832	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917765	3917765	+	Missense_Mutation	SNP	G	C	C	rs142020410		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:3917765G>C	uc002fxe.3	-	49	8254	c.8190C>G	c.(8188-8190)ttC>ttG	p.F2730L	ZZEF1_uc002fxg.1_Missense_Mutation_p.F51L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2730							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						ACTGAGAGTCGAATTTGATTG	0.517000														51			52		0	0	0.000147903	0	0
ALPK1	80216	broad.mit.edu	37	4	113353542	113353543	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:113353542_113353543CC>TT	uc003ian.4	+	10	3066_3067	c.2839_2840CC>TT	c.(2839-2841)cct>TTt	p.P947F	ALPK1_uc003iap.4_Missense_Mutation_p.P947F|ALPK1_uc011cfx.2_Missense_Mutation_p.P869F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.P775F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	947	Ser-rich.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGGGGACAGCCCTTGGTCCTAT	0.510000														33			11		0	0	6.4e-05	0	0
DCTN4	51164	broad.mit.edu	37	5	150112977	150112977	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:150112977G>A	uc010jhi.3	-	4	592	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	DCTN4_uc003lsu.3_Missense_Mutation_p.R107C|DCTN4_uc003lsv.3_Missense_Mutation_p.R164C|DCTN4_uc010jhj.2_Non-coding_Transcript|DCTN4_uc011dck.1_Missense_Mutation_p.R107C	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	164						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTTCTTGCGATCTCGCTCA	0.398000														94			27		0	0	0.00058488	0	0
WDR59	79726	broad.mit.edu	37	16	74946186	74946186	+	Silent	SNP	G	A	A	rs146814017		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:74946186G>A	uc002fdh.1	-	13	1401	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	WDR59_uc002fdi.3_Silent_p.F433F|WDR59_uc021tli.1_Silent_p.F412F|WDR59_uc002fdg.1_Silent_p.F25F	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	433	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACTGTGCAGGGAACTTCACCA	0.522000														48			11		0	0	3.86212e-05	0	0
SERGEF	26297	broad.mit.edu	37	11	18017361	18017361	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:18017361C>T	uc001mnm.3	-	5	684	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_Missense_Mutation_p.E202K|SERGEF_uc010rcz.1_Missense_Mutation_p.E88K	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA.	202					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	Ran guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGCTTGGTTCCTTTGCTGTG	0.463000														10			5		0	0	0.000602214	0	0
ANO4	121601	broad.mit.edu	37	12	101480503	101480503	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:101480503C>T	uc010svm.1	+	16	2174	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ANO4_uc001thw.2_Silent_p.F499F|ANO4_uc001thx.2_Silent_p.F534F|ANO4_uc001thy.2_Silent_p.F54F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	534						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCAGCACTTTCGCTGCCTTTA	0.507000										HNSCC(74;0.22)				54			14		0	0	7.07596e-05	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:151870060C>T	uc022chf.1	+	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA6_uc004ffq.1_Silent_p.F250F|MAGEA6_uc004ffr.1_Silent_p.F250F	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000														39			24		0	0	0.000295444	0	0
NBEAL1	65065	broad.mit.edu	37	2	204039984	204039985	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:204039984_204039985CC>AA	uc002uzt.3	+	40	6684_6685	c.6351_6352CC>AA	c.(6349-6354)accctc>acAAtc	p.L2118I	NBEAL1_uc021vvj.1_Missense_Mutation_p.L821I	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2118	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CGTTCACCACCCTCCACATCCA	0.391000														232			10		0	0	6.4e-05	0	0
SARS	6301	broad.mit.edu	37	1	109774337	109774338	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109774337_109774338CC>AA	uc001dwu.2	+	5	776_777	c.676_677CC>AA	c.(676-678)ccc>AAc	p.P226N		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	226					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity	p.P226L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CATTTATACCCCCTTTTTCATG	0.525000														600			16		0	0	6.4e-05	0	0
KAT6A	7994	broad.mit.edu	37	8	41798546	41798546	+	Silent	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:41798546G>C	uc010lxb.3	-	15	3397	c.2853C>G	c.(2851-2853)ctC>ctG	p.L951L	KAT6A_uc010lxc.3_Silent_p.L951L|KAT6A_uc003xon.4_Silent_p.L951L	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	951					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTTCTTGAGCTGTCCTC	0.582000														142			5		0	0	8.12818e-05	0	0
OR5P2	120065	broad.mit.edu	37	11	7817599	7817599	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:7817599C>T	uc001mfp.1	-	0	891	c.891G>A	c.(889-891)ctG>ctA	p.L297L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTCTCTCTTCAGAGCCCCCT	0.408000														15			12		0	0	0.00010058	0	0
ENTPD6	955	broad.mit.edu	37	20	25187963	25187963	+	Nonsense_Mutation	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:25187963C>G	uc002wuj.2	+	2	486	c.306C>G	c.(304-306)taC>taG	p.Y102*	ENTPD6_uc010zsy.1_Nonsense_Mutation_p.Y102*|ENTPD6_uc010gdj.1_Nonsense_Mutation_p.Y74*|ENTPD6_uc002wum.2_Nonsense_Mutation_p.Y85*|ENTPD6_uc010zta.1_Nonsense_Mutation_p.Y102*|ENTPD6_uc002wuk.2_Nonsense_Mutation_p.Y101*|ENTPD6_uc002wul.2_Nonsense_Mutation_p.Y101*|ENTPD6_uc010ztb.1_Nonsense_Mutation_p.Y74*|ENTPD6_uc010ztc.1_Nonsense_Mutation_p.Y74*|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	102						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGGTCTTCTACGGGATCATGT	0.667000														26			5		0	0	0.000602214	0	0
PDE1B	5153	broad.mit.edu	37	12	54966436	54966437	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:54966436_54966437GG>TT	uc001sgd.2	+	6	1039_1040	c.646_647GG>TT	c.(646-648)ggg>TTg	p.G216L	PDE1B_uc010soz.2_Missense_Mutation_p.G79L|PDE1B_uc010spa.1_Missense_Mutation_p.G175L|PDE1B_uc001sge.3_Missense_Mutation_p.G196L|PDE1B_uc001sgf.3_Missense_Mutation_p.G79L|PDE1B_uc009znq.3_Missense_Mutation_p.G12L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	216	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GACAGGCTATGGGAAGTACAAG	0.510000														407			12		0	0	6.4e-05	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569890	150569890	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:150569890C>T	uc003qnt.3	+	3	573	c.432C>T	c.(430-432)atC>atT	p.I144I		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	144					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAATTTATCAAAGAGCTGC	0.388000														33			9		0	0	0.000274275	0	0
ITIH2	3698	broad.mit.edu	37	10	7769746	7769746	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:7769746T>A	uc001ijs.3	+	10	1396	c.1234T>A	c.(1234-1236)Tcc>Acc	p.S412T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	412	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGACCCCAACTCCGTCTCGCT	0.438000														20			18		0	0	7.07596e-05	0	0
CECR1	51816	broad.mit.edu	37	22	17688149	17688149	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:17688149G>A	uc002zmk.1	-	1	566	c.354C>T	c.(352-354)atC>atT	p.I118I	CECR1_uc010gqu.1_Silent_p.I118I|CECR1_uc011agi.1_Silent_p.I76I|CECR1_uc011agj.1_Silent_p.I76I	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	118					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.G117G(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCATAGTCACGATGCCAATGT	0.552000														18			17		0	0	0.000175454	0	0
TRIM48	79097	broad.mit.edu	37	11	55036750	55036750	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:55036750C>T	uc010rid.2	+	4	697	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	188						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGCCCCAGCCTCTGAATCTA	0.507000														9			14		0	0	0.000308642	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750030	140750030	+	Silent	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:140750030T>C	uc003ljw.2	+	0	69	c.69T>C	c.(67-69)tcT>tcC	p.S23S	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_uc011dat.2_Silent_p.S23S	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	0					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)			TCCTGCTCTCTTTGTTAGACC	0.582000														31			10		0	0	0.000442599	0	0
ZNF234	10780	broad.mit.edu	37	19	44661433	44661433	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:44661433C>T	uc002oym.3	+	5	1571	c.1264C>T	c.(1264-1266)Cac>Tac	p.H422Y	ZNF234_uc002oyl.4_Missense_Mutation_p.H422Y	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCTGGTAGTCCACACAGGGGA	0.428000														33			9		0	0	0.000274275	0	0
LEPR	3953	broad.mit.edu	37	1	66083825	66083825	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:66083825C>T	uc001dci.3	+	15	2780	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	LEPR_uc001dcg.3_Silent_p.I797I|LEPR_uc001dch.3_Silent_p.I797I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I797I|LEPR_uc001dcj.3_Silent_p.I797I|LEPR_uc001dck.3_Silent_p.I797I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	797	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGTATTATATCCATGGTAAGT	0.264000														68			24		0	0	0.000586117	0	0
FRAS1	80144	broad.mit.edu	37	4	79385217	79385217	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:79385217G>A	uc003hlb.2	+	47	7246	c.6806G>A	c.(6805-6807)cGa>cAa	p.R2269Q		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2268					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGACTTCACGAAATGTTCAG	0.413000														42			12		0	0	0.000308642	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216332	8216332	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:8216332G>A	uc002glc.3	+	2	849	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Missense_Mutation_p.E232K|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	232					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGGGGCTATGAGGAGGTCCC	0.706000														44			22		0	0	0.000229342	0	0
CDH19	28513	broad.mit.edu	37	18	64218473	64218473	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:64218473T>A	uc002lkc.1	-	4	771	c.633A>T	c.(631-633)aaA>aaT	p.K211N	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.K211N|CDH19_uc002lkd.3_Missense_Mutation_p.K211N	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	211	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCTATCCATTTTAGAAGATA	0.313000														59			29		0	0	0.000109025	0	0
TBCK	93627	broad.mit.edu	37	4	107154798	107154798	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:107154798G>A	uc010ilv.2	-	15	1824	c.1459C>T	c.(1459-1461)Cat>Tat	p.H487Y	TBCK_uc003hyb.2_Missense_Mutation_p.H230Y|TBCK_uc003hye.2_Missense_Mutation_p.H448Y|TBCK_uc003hyc.2_Missense_Mutation_p.H424Y|TBCK_uc003hyd.2_Missense_Mutation_p.H315Y|TBCK_uc003hyf.2_Missense_Mutation_p.H487Y	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	487	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACTTGGCATGAATAGCTCCC	0.274000														13			4		0	0	0.000602214	0	0
LGR5	8549	broad.mit.edu	37	12	71960215	71960216	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:71960215_71960216GG>TT	uc001swl.3	+	8	937_938	c.889_890GG>TT	c.(889-891)ggg>TTg	p.G297L	LGR5_uc001swm.3_Missense_Mutation_p.G273L|LGR5_uc021rar.1_Missense_Mutation_p.G225L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	297						integral to plasma membrane	protein-hormone receptor activity	p.V296F(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCAGTTTGTTGGGAGATCTGCT	0.332000														431			16		0	0	6.4e-05	0	0
NAV2	89797	broad.mit.edu	37	11	20104716	20104716	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:20104716C>T	uc010rdm.2	+	27	6018	c.5657C>T	c.(5656-5658)tCc>tTc	p.S1886F	NAV2_uc001mpp.3_Missense_Mutation_p.S1766F|NAV2_uc001mpr.4_Missense_Mutation_p.S1830F|NAV2_uc021qew.1_Missense_Mutation_p.S1833F|NAV2_uc009yhx.3_Missense_Mutation_p.S894F|NAV2_uc009yhz.3_Missense_Mutation_p.S475F|NAV2_uc001mpu.3_Missense_Mutation_p.S268F	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1889						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AATTCTCACTCCAACTCTCTG	0.483000														102			11		0	0	6.40141e-05	0	0
VPS13C	54832	broad.mit.edu	37	15	62223331	62223331	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:62223331G>A	uc002agz.3	-	49	6087	c.5996C>T	c.(5995-5997)aCc>aTc	p.T1999I	VPS13C_uc002aha.3_Missense_Mutation_p.T1956I|VPS13C_uc002ahb.2_Missense_Mutation_p.T1999I|VPS13C_uc002ahc.2_Missense_Mutation_p.T1956I	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1999					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCATCAAGGGTGCATGTCTT	0.428000														40			30		0	0	0.00058488	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:28961033T>G	uc002hfl.3	+	4	727	c.496T>G	c.(496-498)Tat>Gat	p.Y166D	LRRC37BP1_uc010csj.2_Intron|LRRC37BP1_uc010wbq.1_Non-coding_Transcript|LRRC37BP1_uc010csi.2_Non-coding_Transcript					Homo sapiens leucine rich repeat containing 37B pseudogene 1 (LRRC37BP1), non-coding RNA.																		AGTTCCAGGATATGACTATAA	0.264000														125			4		0	0	0.000602214	0	0
DPY19L4	286148	broad.mit.edu	37	8	95750607	95750608	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95750607_95750608GG>TT	uc003ygx.2	+	3	387_388	c.263_264GG>TT	c.(262-264)cgg>cTT	p.R88L	DPY19L4_uc003ygy.3_Missense_Mutation_p.R25L	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	88						integral to membrane		p.R88L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GAGCTTGAACGGGAAATCACGT	0.337000														652			20		0	0	6.4e-05	0	0
ZNF295	49854	broad.mit.edu	37	21	43411272	43411272	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:43411272G>A	uc021wjo.1	-	0	2933	c.2933C>T	c.(2932-2934)cCc>cTc	p.P978L	ZNF295_uc002yzz.4_Missense_Mutation_p.P777L|ZNF295_uc002zab.4_Missense_Mutation_p.P978L|ZNF295_uc002yzy.4_Missense_Mutation_p.P978L|ZNF295_uc002zaa.4_Missense_Mutation_p.P978L	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	978					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						AGAGTTTGTGGGAACAGGGCA	0.562000														76			44		0	0	0.000147903	0	0
L1CAM	3897	broad.mit.edu	37	X	153133825	153133825	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:153133825G>A	uc004fjb.3	-	12	1743	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	L1CAM_uc004fjc.3_Silent_p.P545P|L1CAM_uc010nuo.3_Silent_p.P540P|L1CAM_uc004fjd.1_Silent_p.P359P	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	545	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGGAGGGGTCAAAGG	0.597000														38			24		0	0	0.000227799	0	0
SLC17A2	10246	broad.mit.edu	37	6	25923937	25923937	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:25923937C>T	uc011dkb.2	-	1	309	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SLC17A2_uc011dkc.2_Missense_Mutation_p.E76K|SLC17A2_uc003nfl.3_Missense_Mutation_p.E76K			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	76					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTATCAAATTCCTTGATGGAT	0.433000														110			78		0	0	0.000147903	0	0
ADCY1	107	broad.mit.edu	37	7	45725619	45725619	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:45725619C>T	uc003tne.4	+	12	2150	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	711					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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGTCCTTTCGTCTGGGGGC	0.657000														16			16		0	0	0.000422831	0	0
GPD1L	23171	broad.mit.edu	37	3	32200591	32200591	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:32200591G>A	uc003cew.3	+	5	1043	c.842G>A	c.(841-843)aGa>aAa	p.R281K		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	281					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	NAD binding|glycerol-3-phosphate dehydrogenase|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						GCCTTCGCCAGAACTGGGAAG	0.627000														23			8		0	0	0.000157383	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918976	12918976	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:12918976C>T	uc001aum.1	+	1	199	c.112C>T	c.(112-114)Cca>Tca	p.P38S		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	38										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTATCTCCCACTCTTCAG	0.617000														89			11		0	0	0.000151284	0	0
CABIN1	23523	broad.mit.edu	37	22	24483564	24483564	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:24483564C>T	uc002zzi.1	+	22	3550	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	CABIN1_uc021wnc.1_Silent_p.S1091S|CABIN1_uc002zzj.1_Silent_p.S1091S|CABIN1_uc002zzl.2_Silent_p.S1141S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1141					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						CCAACTTGTCCCTATGGATTG	0.562000														66			21		0	0	0.00047179	0	0
XDH	7498	broad.mit.edu	37	2	31595158	31595158	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:31595158G>A	uc002rnv.1	-	16	1871	c.1792C>T	c.(1792-1794)Cct>Tct	p.P598S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	598					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)	TCGTAGCGAGGAATGTCGTCA	0.642000														92			29		0	0	0.000184323	0	0
FOXI1	2299	broad.mit.edu	37	5	169533060	169533060	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:169533060G>A	uc003mai.4	+	0	144	c.99G>A	c.(97-99)gaG>gaA	p.E33E	FOXI1_uc003maj.4_Silent_p.E33E	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	33	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.E33D(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTACTATGAGAACTTCTTCC	0.677000									Pendred syndrome					30			4		0	0	3.59834e-05	0	0
CHL1	10752	broad.mit.edu	37	3	367644	367644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:367644C>T	uc003bot.3	+	3	736	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	CHL1_uc003bou.3_Nonsense_Mutation_p.Q32*|CHL1_uc003bow.2_Nonsense_Mutation_p.Q32*|CHL1_uc011asi.2_Nonsense_Mutation_p.Q32*	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	32					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATTTAGTTCAACAGGTTCC	0.323000														14			5		0	0	3.59834e-05	0	0
GPR112	139378	broad.mit.edu	37	X	135480047	135480047	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:135480047C>T	uc004ezu.1	+	19	8483	c.8192C>T	c.(8191-8193)tCc>tTc	p.S2731F	GPR112_uc010nsb.1_Missense_Mutation_p.S2526F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2731	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAGGATTTATCCAGGTCTACA	0.418000														45			22		0	0	0.000586117	0	0
TRIOBP	11078	broad.mit.edu	37	22	38151143	38151143	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:38151143C>T	uc003atr.3	+	13	5794	c.5523C>T	c.(5521-5523)tcC>tcT	p.S1841S	TRIOBP_uc003atu.3_Silent_p.S1669S|TRIOBP_uc003atv.3_Silent_p.S128S|TRIOBP_uc003atw.3_Silent_p.S128S|TRIOBP_uc003atx.1_5'Flank|TRIOBP_uc010gxh.3_5'Flank	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1841	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCTGCGTTCCTGCACGGATG	0.627000														9			6		0	0	0.000442599	0	0
TARSL2	123283	broad.mit.edu	37	15	102252163	102252163	+	Missense_Mutation	SNP	C	T	T	rs138576200		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:102252163C>T	uc002bxm.3	-	4	787	c.732G>A	c.(730-732)atG>atA	p.M244I	TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	244					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTAAAGCTCCATGGCCTCCC	0.458000														20			11		0	0	6.40141e-05	0	0
COL14A1	7373	broad.mit.edu	37	8	121357718	121357718	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:121357718C>T	uc003yox.3	+	44	5258	c.4993C>T	c.(4993-4995)Cct>Tct	p.P1665S	COL14A1_uc003yoz.3_Missense_Mutation_p.P630S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1665	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCCAGGCTCACCTGGAGCCCC	0.647000														52			21		0	0	0.00047179	0	0
OR13F1	138805	broad.mit.edu	37	9	107267237	107267237	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:107267237G>A	uc011lvm.2	+	0	694	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGCTCAGTGGAAGGTCGAAG	0.493000														92			30		0	0	0.00058488	0	0
PANK3	79646	broad.mit.edu	37	5	167995759	167995759	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:167995759G>A	uc003lzz.2	-	1	599	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	91					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AAGTAGGCAGGTCCTGGGTTG	0.433000														93			23		0	0	0.000295444	0	0
DMBT1	1755	broad.mit.edu	37	10	124395566	124395566	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:124395566C>T	uc001lgk.1	+	49	6327	c.6221C>T	c.(6220-6222)tCc>tTc	p.S2074F	DMBT1_uc001lgl.1_Missense_Mutation_p.S2064F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1446F|DMBT1_uc021qaf.1_Missense_Mutation_p.S2074F|DMBT1_uc021qag.1_Missense_Mutation_p.S2064F|DMBT1_uc021qah.1_Missense_Mutation_p.S1446F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2073F|DMBT1_uc010qtx.1_Missense_Mutation_p.S794F|DMBT1_uc009yab.1_Missense_Mutation_p.S777F|DMBT1_uc009yac.1_Missense_Mutation_p.S368F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2074	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCGCAGTTCCCCTCTCATT	0.502000														49			13		0	0	0.000219431	0	0
DSG4	147409	broad.mit.edu	37	18	28989524	28989524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:28989524G>A	uc002kwr.2	+	12	2178	c.2043G>A	c.(2041-2043)tgG>tgA	p.W681*	DSG4_uc002kwq.2_Nonsense_Mutation_p.W681*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	681					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGCAGTCTTGGAGAATTGAAG	0.512000														70			21		0	0	0.000586117	0	0
ZNF195	7748	broad.mit.edu	37	11	3381470	3381470	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:3381470G>A	uc001lxt.3	-	5	950	c.768C>T	c.(766-768)ctC>ctT	p.L256L	ZNF195_uc010qxr.2_Silent_p.L237L|ZNF195_uc009ydz.3_Silent_p.L211L|ZNF195_uc001lxu.3_Silent_p.L188L|ZNF195_uc001lxv.3_Silent_p.L233L|ZNF195_uc021qck.1_Silent_p.L188L|ZNF195_uc001lxs.3_Silent_p.L184L	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTAGGAATGAGAGCATTTGAA	0.328000														43			6		0	0	0.000274275	0	0
CLNK	116449	broad.mit.edu	37	4	10515113	10515113	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:10515113G>A	uc003gmo.4	-	15	1018	c.881C>T	c.(880-882)cCt>cTt	p.P294L		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	294					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TTTGGGGAAAGGTGGTCTCCA	0.493000														28			6		0	0	0.000157383	0	0
BAZ2A	11176	broad.mit.edu	37	12	56993772	56993772	+	Silent	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:56993772G>C	uc001slq.1	-	24	5201	c.5007C>G	c.(5005-5007)gcC>gcG	p.A1669A	BAZ2A_uc001slp.1_Silent_p.A1667A|BAZ2A_uc001slo.1_Silent_p.A475A|BAZ2A_uc009zov.1_Silent_p.A635A|BAZ2A_uc009zow.1_Silent_p.A1637A	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1669					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						ACTTCTCCCAGGCAATGGACC	0.652000														70			15		0	0	7.07596e-05	0	0
OR13H1	347468	broad.mit.edu	37	X	130678899	130678899	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:130678899G>A	uc011muw.2	+	0	852	c.852G>A	c.(850-852)ttG>ttA	p.L284L	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CACCCATGTTGAACCCCCTGA	0.408000														15			11		0	0	0.00010058	0	0
SEC16A	9919	broad.mit.edu	37	9	139369253	139369253	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:139369253G>A	uc004chx.3	-	2	3124	c.2815C>T	c.(2815-2817)Cca>Tca	p.P939S	SEC16A_uc004chv.4_Intron|SEC16A_uc004chw.3_Missense_Mutation_p.P939S|SEC16A_uc010nbn.3_Missense_Mutation_p.P939S|SEC16A_uc010nbo.1_Missense_Mutation_p.P939S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	761	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGACTTTCTGGAACCAAGTTC	0.483000														70			26		0	0	0.000109025	0	0
ADH5	128	broad.mit.edu	37	4	99993813	99993813	+	Silent	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:99993813G>T	uc003hui.3	-	7	1091	c.1011C>A	c.(1009-1011)tcC>tcA	p.S337S		NM_000671	NP_000662	P11766	ADHX_HUMAN	Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5), mRNA.	337					ethanol oxidation|response to redox state		S-(hydroxymethyl)glutathione dehydrogenase activity|alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|zinc ion binding	p.S337S(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TTATCTTTTTGGACATATATT	0.343000														330			9		7.48243e-07	1.27065e-05	0.000442599	1	0
FAM71B	153745	broad.mit.edu	37	5	156592676	156592677	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:156592676_156592677CC>AA	uc003lwn.3	-	0	603_604	c.503_504GG>TT	c.(502-504)tgg>tTT	p.W168F		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	168						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGTTTTTCCCAATAGCAAAA	0.500000														365			11		0	0	6.4e-05	0	0
OR13C2	392376	broad.mit.edu	37	9	107367329	107367329	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:107367329C>T	uc011lvq.2	-	0	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACTCATTGTCTGAGATGTCA	0.388000														57			12		0	0	0.000219431	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936745	119936746	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:119936745_119936746GG>TT	uc003yon.4	-	4	1396_1397	c.1073_1074CC>AA	c.(1072-1074)ccc>cAA	p.P358Q		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	358	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TGACAGTTTTGGGAAAGTGGTA	0.416000														427			10		0	0	6.4e-05	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27797695	27797696	+	Missense_Mutation	DNP	CC	AA	AA	rs11540484		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:27797695_27797696CC>AA	uc003szl.3	+	2	390_391	c.208_209CC>AA	c.(208-210)cct>AAt	p.P70N	TAX1BP1_uc011jzo.2_Missense_Mutation_p.P70N|TAX1BP1_uc003szk.3_Missense_Mutation_p.P70N|TAX1BP1_uc011jzp.2_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	70					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTTATGGTCCCCTATGCCTGAA	0.371000														769			20		0	0	6.4e-05	0	0
OTOGL	283310	broad.mit.edu	37	12	80765802	80765802	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:80765802G>A	uc001szd.3	+	55	6718	c.6712G>A	c.(6712-6714)Gaa>Aaa	p.E2238K	OTOGL_uc021rba.1_Missense_Mutation_p.E257K|OTOGL_uc009zsg.2_Missense_Mutation_p.E118K	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTCTAGAATGAAGGGATTGT	0.308000														43			10		0	0	3.86212e-05	0	0
UCN3	114131	broad.mit.edu	37	10	5415751	5415751	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:5415751C>T	uc001ihx.1	+	1	292	c.68C>T	c.(67-69)cCc>cTc	p.P23L		NM_053049	NP_444277	Q969E3	UCN3_HUMAN	Homo sapiens urocortin 3 (stresscopin) (UCN3), mRNA.	23						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						ACAGGCCTCCCCCACAAGTTC	0.617000														31			8		0	0	0.000274275	0	0
CXorf36	79742	broad.mit.edu	37	X	45013293	45013293	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:45013293G>A	uc004dgg.2	-	3	898	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	275						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						AAAGACTCCAGGACACCCAGG	0.532000														23			26		0	0	0.000409698	0	0
GPSM2	29899	broad.mit.edu	37	1	109428147	109428148	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109428147_109428148GG>TT	uc010ovc.2	+	1	499_500	c.3_4GG>TT	c.(1-6)atggag>atTTag	p.1_2ME>I*	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Nonsense_Mutation_p.1_2ME>I*|GPSM2_uc010ove.1_Nonsense_Mutation_p.1_2ME>I*	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	1					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATGACTCGATGGAGGAAAATTT	0.307000														838			18		0	0	6.4e-05	0	0
FKBP8	23770	broad.mit.edu	37	19	18644121	18644121	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:18644121G>A	uc002njk.1	-	6	1092	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	FKBP8_uc010xqi.1_Missense_Mutation_p.P356S|FKBP8_uc002njj.1_Missense_Mutation_p.P328S|FKBP8_uc021uqp.1_Missense_Mutation_p.P168S	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	327					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CTCAGGATGGGGATGGCCTCA	0.622000														6			4		0	0	3.59834e-05	0	0
KCNQ3	3786	broad.mit.edu	37	8	133184869	133184869	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:133184869C>T	uc003ytj.3	-	6	1341	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	KCNQ3_uc003yti.3_Silent_p.R252R|KCNQ3_uc010mdt.3_Silent_p.R372R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	372					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGCTGGCTTCCTCCTTTTCT	0.552000														188			15		0	0	9.7654e-05	0	0
DGKK	139189	broad.mit.edu	37	X	50147080	50147080	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:50147080G>A	uc010njr.2	-	4	1089	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	349					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.S348S(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GATAAGGCAGGAATGCTCTCT	0.463000														15			6		0	0	8.12818e-05	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507371	26507371	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:26507371C>T	uc001bln.4	+	2	434	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.L126F|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	126	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGACGCCCTCCTCTTCTGGCT	0.572000														24			14		0	0	0.000566183	0	0
KIF11	3832	broad.mit.edu	37	10	94366382	94366383	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:94366382_94366383GG>TT	uc001kic.3	+	2	525_526	c.217_218GG>TT	c.(217-219)gga>TTa	p.G73L		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	73	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTAGGTGTTTGGAGCATCTACT	0.282000														725			16		0	0	6.4e-05	0	0
ZNF300	91975	broad.mit.edu	37	5	150275090	150275090	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:150275090G>A	uc021yfx.1	-	6	2187	c.1759C>T	c.(1759-1761)Cat>Tat	p.H587Y	ZNF300_uc021yfy.1_Missense_Mutation_p.H571Y|ZNF300_uc021yfz.1_Missense_Mutation_p.H535Y	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCAGTATGAATCCTCTGA	0.433000														20			10		0	0	0.000442599	0	0
CLCC1	23155	broad.mit.edu	37	1	109492523	109492524	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109492523_109492524CC>AA	uc021ora.1	-	1	160_161	c.149_150GG>TT	c.(148-150)ggg>gTT	p.G50V	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.G50V|CLCC1_uc001dwf.1_Missense_Mutation_p.G50V|CLCC1_uc009wes.1_Missense_Mutation_p.G50V|CLCC1_uc009wet.1_Missense_Mutation_p.G50V|CLCC1_uc001dwh.1_Missense_Mutation_p.G50V	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	50						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CATCCTTTTCCCCTGAAATACC	0.287000														654			13		0	0	6.4e-05	0	0
MYO9A	4649	broad.mit.edu	37	15	72191272	72191273	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:72191272_72191273GG>TT	uc002atl.4	-	24	4044_4045	c.3571_3572CC>AA	c.(3571-3573)cct>AAt	p.P1191N	MYO9A_uc010biq.3_Missense_Mutation_p.P811N|MYO9A_uc002atn.1_Missense_Mutation_p.P1172N|MYO9A_uc002atk.3_5'UTR|MYO9A_uc002atm.1_5'UTR	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1191	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCATCCTGAAGGGTCTGAACCC	0.371000														263			11		0	0	6.4e-05	0	0
SAMD9	54809	broad.mit.edu	37	7	92731165	92731165	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:92731165G>A	uc003umf.3	-	2	4516	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*	SAMD9_uc003umg.3_Nonsense_Mutation_p.R1416*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.R1416*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1416						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACTTCTCGAAGCTGATCT	0.373000														175			17		0	0	0.000132079	0	0
MLIP	90523	broad.mit.edu	37	6	53986346	53986346	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:53986346C>T	uc011dxa.2	+	1	231	c.198C>T	c.(196-198)ttC>ttT	p.F66F	MLIP_uc003pcf.2_Silent_p.F55F|MLIP_uc003pcg.4_Silent_p.F55F|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	55						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCTCTAAATTCCTTGTTAAAA	0.358000														78			15		0	0	0.000422831	0	0
NLRP9	338321	broad.mit.edu	37	19	56243688	56243688	+	Silent	SNP	G	A	A	rs143748392		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:56243688G>A	uc002qly.3	-	1	1537	c.1509C>T	c.(1507-1509)atC>atT	p.I503I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	503						cytoplasm	ATP binding	p.I503I(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCATGCTGACGATTTCTTCTG	0.433000														108			56		0	0	0.000147903	0	0
CD180	4064	broad.mit.edu	37	5	66480226	66480226	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:66480226C>T	uc003juy.2	-	2	593	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	149					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCCAAGTTTTCCAGATTGTGC	0.418000														126			37		0	0	0.000374591	0	0
THADA	63892	broad.mit.edu	37	2	43625235	43625235	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:43625235G>A	uc002rsw.4	-	28	4454	c.4102C>T	c.(4102-4104)Cgt>Tgt	p.R1368C	THADA_uc010far.3_Missense_Mutation_p.R563C|THADA_uc002rsx.4_Missense_Mutation_p.R1368C|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.R1077C|THADA_uc010fat.1_Missense_Mutation_p.R515C	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1368							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCAAGGCACGAGCTGCCATT	0.468000														178			81		0	0	0.000147903	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474889	20474889	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:20474889C>T	uc009vpp.1	+	4	729	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	168					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.P210P(1)|p.P211P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCCGCCCCTCCCTAGAGCCT	0.657000														25			7		0	0	0.000442599	0	0
COPS3	8533	broad.mit.edu	37	17	17168147	17168147	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:17168147T>A	uc002grd.3	-	5	707	c.590A>T	c.(589-591)aAc>aTc	p.N197I	COPS3_uc010vwv.2_Missense_Mutation_p.N177I|COPS3_uc010vww.2_Missense_Mutation_p.N67I	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.	197	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	p.K196N(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCTTTCAAAGTTCTTCAGCCC	0.358000														32			48		0	0	0.000147903	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281373	145281374	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:145281373_145281374GG>TT	uc001emn.4	+	3	673_674	c.303_304GG>TT	c.(301-306)aaggag>aaTTag	p.101_102KE>N*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Nonsense_Mutation_p.101_102KE>N*|NOTCH2NL_uc001emo.2_Nonsense_Mutation_p.101_102KE>N*|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	101	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.K101N(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTTTAGGTAAGGAGTGCCAATG	0.510000														623			22		0	0	6.4e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32018024	32018025	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:32018024_32018025CC>AA	uc003nzl.2	-	26	9385_9386	c.9183_9184GG>TT	c.(9181-9186)ctgggg>ctTTgg	p.G3062W		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3109	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCAGCTCCCCCAGGCGAGGCT	0.619000														446			15		0	0	6.4e-05	0	0
METTL22	79091	broad.mit.edu	37	16	8735995	8735995	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:8735995C>T	uc002cyz.3	+	7	1114	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	280							methyltransferase activity			large_intestine(5)|lung(4)	9						TCCCAAGGTCCCCTTCAGTTG	0.483000														41			15		0	0	0.000219431	0	0
CD22	933	broad.mit.edu	37	19	35832709	35832709	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:35832709C>T	uc010edt.3	+	8	1960	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	CD22_uc010edu.3_Missense_Mutation_p.H538Y|CD22_uc010edv.3_Missense_Mutation_p.H626Y|CD22_uc002nzb.4_Missense_Mutation_p.H449Y|CD22_uc010xst.2_Missense_Mutation_p.H454Y|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	626	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCCGTCTCCCACTACACCTG	0.607000														24			4		0	0	0.00024832	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:56373427G>A	uc002qmd.4	+	4	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_uc002qmf.3_Silent_p.L621L|NLRP4_uc010etf.3_Silent_p.L527L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000														144			27		0	0	9.22233e-05	0	0
CCDC68	80323	broad.mit.edu	37	18	52609926	52609926	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:52609926C>T	uc002lfs.3	-	2	269	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	CCDC68_uc002lft.3_Missense_Mutation_p.E33K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	33										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)		TACTCGGTTTCTTCAATAATG	0.388000														29			5		0	0	0.000602214	0	0
KLHL13	90293	broad.mit.edu	37	X	117053616	117053616	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:117053616C>T	uc011mtp.2	-	4	580	c.447G>A	c.(445-447)agG>agA	p.R149R	KLHL13_uc004eqk.3_Silent_p.R95R|KLHL13_uc004eql.3_Silent_p.R146R|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Silent_p.R140R|KLHL13_uc011mtq.2_Silent_p.R130R|KLHL13_uc004eqm.3_Silent_p.R104R|KLHL13_uc022cde.1_Silent_p.R130R	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	146	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.I149T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAATAATTTTCCTTAGACCGA	0.353000														27			51		0	0	0.000147903	0	0
FSTL1	11167	broad.mit.edu	37	3	120169561	120169561	+	Silent	SNP	C	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:120169561C>G	uc003eds.3	-	1	208	c.33G>C	c.(31-33)gcG>gcC	p.A11A	FSTL1_uc011bjh.2_Silent_p.A11A|FSTL1_uc010hrb.2_Silent_p.A11A	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	11					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CCGCCACCAGCGCGAGCGCGA	0.721000														5			5		0	0	0.000602214	0	0
CHN1	1123	broad.mit.edu	37	2	175673691	175673692	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:175673691_175673692CC>AA	uc002uji.3	-	10	1384_1385	c.1043_1044GG>TT	c.(1042-1044)agg>aTT	p.R348I	CHN1_uc010zeq.2_Missense_Mutation_p.R322I|CHN1_uc002ujj.3_Missense_Mutation_p.R123I|CHN1_uc002ujg.3_Missense_Mutation_p.R223I	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	348	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTGGCAAATCCCTGAAGTACAG	0.361000			T	TAF15	extraskeletal myxoid chondrosarcoma									136			8		0	0	6.4e-05	0	0
NTRK3	4916	broad.mit.edu	37	15	88678351	88678351	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:88678351G>A	uc002bme.2	-	9	1491	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	NTRK3_uc002bmh.2_Silent_p.F395F|NTRK3_uc002bmf.2_Silent_p.F395F|NTRK3_uc021sua.1_Silent_p.F395F|NTRK3_uc010upl.1_Silent_p.F297F|NTRK3_uc010bnh.1_Silent_p.F395F|NTRK3_uc002bmg.3_Silent_p.F395F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	395					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.H394Q(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCCTTGAGGAAGTGGCCAT	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				83			42		0	0	0.000147903	0	0
SORT1	6272	broad.mit.edu	37	1	109859563	109859564	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109859563_109859564CC>AA	uc001dxm.2	-	16	2207_2208	c.2158_2159GG>TT	c.(2158-2160)ggg>TTg	p.G720L	SORT1_uc010ovi.2_Missense_Mutation_p.G583L	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	720	Interactions with LRPAP1 and NGFB.				Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	p.G720E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GCATTTGTCCCCTGGAATTTTC	0.401000														454			13		0	0	6.4e-05	0	0
IDE	3416	broad.mit.edu	37	10	94215379	94215380	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:94215379_94215380GG>TT	uc001kia.3	-	23	2993_2994	c.2917_2918CC>AA	c.(2917-2919)cca>AAa	p.P973K	IDE_uc010qnp.2_Missense_Mutation_p.P418K|IDE_uc001khz.3_Missense_Mutation_p.P418K	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	973					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTTGACATGGGAACTCTCCA	0.317000														626			16		0	0	6.4e-05	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96057874	96057875	+	Splice_Site	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:96057874_96057875GG>TT	uc003yhj.3	+	5	603	c.580_splice	c.e5+1	p.G194_splice	NDUFAF6_uc011lgs.2_Splice_Site|NDUFAF6_uc003yhi.3_Splice_Site_p.G142_splice|NDUFAF6_uc003yhk.3_Splice_Site	NM_152416	NP_689629	Q330K2	CH038_HUMAN	Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.	194					biosynthetic process	mitochondrion	transferase activity										TAGAAATATTGGGTAAGTTGTT	0.302000														646			19		0	0	6.4e-05	0	0
TCP11L1	55346	broad.mit.edu	37	11	33065453	33065454	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:33065453_33065454CC>AA	uc001mud.3	+	1	534_535	c.134_135CC>AA	c.(133-135)tcc>tAA	p.S45*	TCP11L1_uc009yju.3_5'UTR|TCP11L1_uc010rei.2_Nonsense_Mutation_p.S45*|TCP11L1_uc001mue.3_Nonsense_Mutation_p.S45*	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	45										kidney(1)|liver(2)|lung(2)|skin(1)	6						TCAGACTCCTCCAGCCCCCAAA	0.436000														224			9		0	0	6.4e-05	0	0
MRPS2	51116	broad.mit.edu	37	9	138393782	138393782	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:138393782C>T	uc004cfv.4	+	2	336	c.262C>T	c.(262-264)Cga>Tga	p.R88*	C9orf116_uc004cfs.1_5'Flank|C9orf116_uc004cft.1_5'Flank|C9orf116_uc004cfu.1_5'Flank	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	88					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTCGATGCCCGAGTCCATCT	0.552000														38			26		0	0	0.000227799	0	0
ARL3	403	broad.mit.edu	37	10	104459196	104459196	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:104459196C>T	uc001kwa.3	-	2	356	c.198G>A	c.(196-198)tgG>tgA	p.W66*		NM_004311	NP_004302	P36405	ARL3_HUMAN	Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.	66					cell cycle|cytokinesis|small GTPase mediated signal transduction	Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CACCAATGTCCCATACATTCA	0.338000														26			10		0	0	3.86212e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95893938	95893939	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95893938_95893939CC>AA	uc003yhc.3	-	11	1240_1241	c.1136_1137GG>TT	c.(1135-1137)ggg>gTT	p.G379V		NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	379					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ACAACTGTCCCCCTTTTCTGAA	0.401000														688			20		0	0	6.4e-05	0	0
FAM173B	134145	broad.mit.edu	37	5	10227683	10227683	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:10227683G>A	uc003jeo.2	-	4	601	c.572C>T	c.(571-573)cCa>cTa	p.P191L	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.P174L	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	191						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AGTCCAATGTGGGAAAGGGAA	0.498000														57			8		0	0	0.000274275	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23059404	23059404	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:23059404C>T	uc003xda.3	-	3	652	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	182					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGTTCCTGGTCGTGGTGCAGG	0.512000														41			15		0	0	0.000132079	0	0
CBLN4	140689	broad.mit.edu	37	20	54575808	54575808	+	Silent	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:54575808G>C	uc002xxa.3	-	1	1172	c.387C>G	c.(385-387)gtC>gtG	p.V129V		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	129	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGCTCTGGTAGACTTTAATCA	0.373000														146			6		0	0	0.000157383	0	0
BCL11B	64919	broad.mit.edu	37	14	99723888	99723888	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:99723888C>T	uc001yga.3	-	1	614	c.347G>A	c.(346-348)gGg>gAg	p.G116E	BCL11B_uc001ygb.3_Missense_Mutation_p.G116E	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	116						nucleus	zinc ion binding	p.G116R(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GACTTGGATCCCGATCTCCAC	0.612000			T	TLX3	T-ALL									30			5		0	0	8.12818e-05	0	0
BLM	641	broad.mit.edu	37	15	91346750	91346751	+	Splice_Site	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:91346750_91346751GG>TT	uc002bpr.3	+	18	3456	c.3359_splice	c.e18-1	p.G1120_splice	BLM_uc010uqh.2_Splice_Site_p.G1120_splice|BLM_uc010uqi.2_Splice_Site_p.G745_splice|BLM_uc010bnx.3_Intron	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1120					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTCTTATCAGGGAGTAAGAGT	0.366000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					417			17		0	0	6.4e-05	0	0
ESRP1	54845	broad.mit.edu	37	8	95674561	95674562	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95674561_95674562GG>TT	uc003ygq.4	+	4	735_736	c.552_553GG>TT	c.(550-555)atgggg>atTTgg	p.184_185MG>IW	ESRP1_uc003ygr.4_Missense_Mutation_p.184_185MG>IW|ESRP1_uc003ygs.4_Missense_Mutation_p.184_185MG>IW|ESRP1_uc003ygt.4_Missense_Mutation_p.184_185MG>IW|ESRP1_uc003ygu.4_Missense_Mutation_p.184_185MG>IW|ESRP1_uc003ygv.3_Missense_Mutation_p.24_25MG>IW|ESRP1_uc003ygw.3_Missense_Mutation_p.24_25MG>IW	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	184					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTGAAGATATGGGGAATATAAT	0.327000														757			15		0	0	6.4e-05	0	0
SCN10A	6336	broad.mit.edu	37	3	38798246	38798246	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:38798246C>T	uc003ciq.3	-	8	1209	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	403					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)	TTGCCTGGTTCTGCTCCTCAT	0.483000														144			10		0	0	0.000442599	0	0
CBWD1	55871	broad.mit.edu	37	9	172083	172084	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:172083_172084GG>TT	uc003zga.4	-	3	533_534	c.427_428CC>AA	c.(427-429)cct>AAt	p.P143N	CBWD1_uc003zgb.4_Missense_Mutation_p.P107N|CBWD1_uc003zgc.4_Missense_Mutation_p.P143N|CBWD1_uc011llr.1_Missense_Mutation_p.P107N	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	Homo sapiens COBW domain containing 1 (CBWD1), transcript variant 1, mRNA.	143							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTTCTTACCAGGGTCTGCTAAT	0.347000														364			13		0	0	6.4e-05	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761889	130761889	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:130761889G>A	uc003qcb.3	+	1	2700	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	TMEM200A_uc003qca.3_Missense_Mutation_p.E108K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E108K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E108K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E108K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	108						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CATTCGGAATGAAGGCGGTGT	0.418000														48			10		0	0	3.86212e-05	0	0
EGF	1950	broad.mit.edu	37	4	110865147	110865147	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:110865147A>G	uc003hzy.4	+	3	1111	c.659A>G	c.(658-660)aAc>aGc	p.N220S	EGF_uc011cfu.2_Missense_Mutation_p.N220S|EGF_uc011cfv.2_Missense_Mutation_p.N220S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	220					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATTCAGTACAACAGAGAAGGA	0.413000														38			29		0	0	0.000147802	0	0
FLT4	2324	broad.mit.edu	37	5	180036966	180036966	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:180036966G>A	uc003mlz.4	-	27	3825	c.3746C>T	c.(3745-3747)tCc>tTc	p.S1249F	FLT4_uc003mma.4_Missense_Mutation_p.S1249F	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1249					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.S1249F(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CATCCTGGAGGAACCACGGGT	0.577000														76			21		0	0	0.00047179	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407338	75407338	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:75407338C>T	uc001jut.4	-	3	2224	c.2072G>A	c.(2071-2073)gGg>gAg	p.G691E	SYNPO2L_uc001jus.4_Missense_Mutation_p.G467E	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	691	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					ACTCCTGGCCCCTACTGGCTG	0.602000														48			20		0	0	0.000132079	0	0
LRP1B	53353	broad.mit.edu	37	2	141259425	141259425	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:141259425G>A	uc002tvj.1	-	54	9653	c.8681C>T	c.(8680-8682)tCa>tTa	p.S2894L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2894	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATAAAAAATGAACTGTTGCA	0.373000										TSP Lung(27;0.18)				12			5		0	0	8.12818e-05	0	0
SLC4A2	6522	broad.mit.edu	37	7	150764051	150764051	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:150764051C>T	uc022apz.1	+	6	1977	c.937C>T	c.(937-939)Cga>Tga	p.R313*	SLC4A2_uc003wit.4_Nonsense_Mutation_p.R313*|SLC4A2_uc011kve.2_Nonsense_Mutation_p.R304*|SLC4A2_uc003wiu.4_Nonsense_Mutation_p.R299*	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	313	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTCGGGCCCGACCCCGGGC	0.652000														35			38		0	0	0.000147903	0	0
SEC14L4	284904	broad.mit.edu	37	22	30899737	30899737	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:30899737G>A	uc003aid.2	-	1	157	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SEC14L4_uc011akz.1_Silent_p.F19F|SEC14L4_uc003aie.2_5'UTR|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	19						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGTTCTCCCGGAACTGAGCGG	0.632000														28			11		0	0	0.00010058	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975831	10975831	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:10975831C>T	uc003bvz.3	+	11	1588	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	518					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCTGGATGATCATGACCCCTG	0.562000														80			22		0	0	0.000375601	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312852	120312852	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:120312852T>C	uc001pxl.2	+	14	1578	c.1243T>C	c.(1243-1245)Tcc>Ccc	p.S415P	ARHGEF12_uc009zat.3_Missense_Mutation_p.S396P|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S312P|ARHGEF12_uc009zau.1_Missense_Mutation_p.S312P|ARHGEF12_uc021qrm.1_Missense_Mutation_p.S396P	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	415	RGSL.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACATACCAATTCCAAAGAAAC	0.358000			T	MLL	AML									25			10		0	0	0.00010058	0	0
OR1L8	138881	broad.mit.edu	37	9	125329898	125329898	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:125329898G>A	uc004bmp.1	-	0	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TAGATAAAAGGATTGAGCATG	0.458000														96			29		0	0	0.000491102	0	0
RFC1	5981	broad.mit.edu	37	4	39301645	39301645	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:39301645G>C	uc003gty.2	-	20	2947	c.2807C>G	c.(2806-2808)gCg>gGg	p.A936G	RFC1_uc003gtx.2_Missense_Mutation_p.A935G	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	936					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.Q936*(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTCACCTGCGCAGGCAGAAG	0.448000														36			13		0	0	0.000219431	0	0
SERPINA6	866	broad.mit.edu	37	14	94780794	94780794	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:94780794G>A	uc001ycv.3	-	1	296	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	64					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGGGAGATGAAAATGTTCT	0.552000														27			8		0	0	0.000157383	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957542	29957542	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr22:29957542G>A	uc003afx.4	-	5	787	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	NIPSNAP1_uc011akp.2_Missense_Mutation_p.P158S	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	178								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CCCATTCTGGGCTGTGGCTCA	0.587000														63			22		0	0	0.000229342	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736333	12736333	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:12736333G>A	uc004cuz.2	+	15	3894	c.3388G>A	c.(3388-3390)Gaa>Aaa	p.E1130K	FRMPD4_uc011mij.2_Missense_Mutation_p.E1122K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1130					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGAAGGGAAGGAAGAAGGAGC	0.517000														48			73		0	0	0.000147903	0	0
GPSM2	29899	broad.mit.edu	37	1	109441291	109441292	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:109441291_109441292GG>TT	uc010ovc.2	+	5	1081_1082	c.585_586GG>TT	c.(583-588)ttgggt>ttTTgt	p.195_196LG>FC	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.195_196LG>FC|GPSM2_uc010ove.1_Missense_Mutation_p.195_196LG>FC	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	195					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGACTGCTTTGGGTGACCGAGC	0.406000														553			12		0	0	6.4e-05	0	0
CMTM7	112616	broad.mit.edu	37	3	32491044	32491044	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:32491044G>A	uc003cey.1	+	3	668	c.432_splice	c.e3+1	p.A144_splice	CMTM7_uc003cez.1_Intron	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA.	144	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity	p.A144A(1)		endometrium(1)|large_intestine(1)|lung(2)	4						TAGCCGGAGCGGTGAGGATGT	0.493000														57			9		0	0	0.000442599	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255463	110255463	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:110255463G>A	uc003ynb.4	-	9	1638	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	NUDCD1_uc003yna.3_Silent_p.A480A|NUDCD1_uc010mcl.3_Silent_p.A422A	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	509								p.A509A(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ACTCACAAAGGGCTGCATACG	0.438000														99			12		0	0	0.000151284	0	0
FAT2	2196	broad.mit.edu	37	5	150925776	150925776	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:150925776G>C	uc003lue.4	-	8	4925	c.4912C>G	c.(4912-4914)Cca>Gca	p.P1638A		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1638	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCATTGTGGGGAGCCTTGA	0.468000														62			4		0	0	0.000602214	0	0
LAMB4	22798	broad.mit.edu	37	7	107746344	107746344	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:107746344C>T	uc010ljo.1	-	7	872	c.788G>A	c.(787-789)gGa>gAa	p.G263E	LAMB4_uc003vey.2_Missense_Mutation_p.G263E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	263	Laminin N-terminal.				cell adhesion	basement membrane		p.R262Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAAGCAGCTTCCCCGAACAAT	0.468000														55			9		0	0	0.000442599	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269501	150269501	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:150269501C>T	uc003whl.3	+	2	425	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.H129Y	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	115							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGGCCTCATGCTCTGCT	0.507000														46			9		0	0	0.000274275	0	0
AK022382	0	broad.mit.edu	37	10	52389895	52389895	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:52389895C>T	uc001jjf.1	+	1		c.588C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		TATGCTGGGTCGTTTTCCTGA	0.403000														10			6		0	0	0.000157383	0	0
SLC6A13	6540	broad.mit.edu	37	12	369044	369044	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:369044G>A	uc001qic.2	-	1	265	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	SLC6A13_uc009zdj.2_Missense_Mutation_p.P59S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P59S|SLC6A13_uc001qid.2_Missense_Mutation_p.P59S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	59					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)			CAGAGATAGGGAAACCTCCAG	0.562000														28			53		0	0	0.000147903	0	0
SGMS1	259230	broad.mit.edu	37	10	52103437	52103437	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:52103437G>A	uc001jje.3	-	6	1392	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Silent_p.F146F|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Silent_p.F146F|SGMS1_uc021pqo.1_Silent_p.F146F|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	152					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTGAGAACGAAACAGGAAA	0.502000														25			7		0	0	0.000157383	0	0
IGSF1	3547	broad.mit.edu	37	X	130408581	130408581	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:130408581C>T	uc004ewe.4	-	17	4041	c.3758G>A	c.(3757-3759)gGg>gAg	p.G1253E	IGSF1_uc004ewd.3_Missense_Mutation_p.G1248E|IGSF1_uc022cdv.1_Missense_Mutation_p.G1239E|IGSF1_uc004ewf.2_Missense_Mutation_p.G1228E	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1248					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCTGCTGCCCCCACCAGCTC	0.547000														22			13		0	0	0.00010058	0	0
TMEM119	338773	broad.mit.edu	37	12	108985573	108985573	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:108985573C>T	uc001tng.3	-	1	750	c.587G>A	c.(586-588)gGa>gAa	p.G196E	TMEM119_uc021rdl.1_Missense_Mutation_p.G196E	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	196						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CATCCTGGCTCCGTCCCCACC	0.677000														13			16		0	0	0.000566183	0	0
ODZ2	57451	broad.mit.edu	37	5	167687367	167687367	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:167687367C>T	uc010jjd.3	+	27	7485	c.7485C>T	c.(7483-7485)ttC>ttT	p.F2495F	ODZ2_uc003lzr.4_Silent_p.F2265F|ODZ2_uc003lzt.4_Silent_p.F1868F|ODZ2_uc010jje.3_Silent_p.F1759F	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAATGTATTTCGTGCCTCCTC	0.428000														90			37		0	0	0.000191422	0	0
RIMS2	9699	broad.mit.edu	37	8	104948865	104948865	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:104948865G>A	uc003yls.3	+	10	2037	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R821Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R613Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R660Q|RIMS2_uc003ylt.3_Missense_Mutation_p.R206Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	883					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R613Q(3)|p.R888Q(3)|p.R599Q(3)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCCACCGAAGAGAATTT	0.388000										HNSCC(12;0.0054)				124			43		0	0	0.000437636	0	0
FAT1	2195	broad.mit.edu	37	4	187549677	187549677	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:187549677G>A	uc003izf.3	-	7	4752	c.4564C>T	c.(4564-4566)Cat>Tat	p.H1522Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1522	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGCTTCATGATCCAGTTTC	0.507000										HNSCC(5;0.00058)				41			12		0	0	0.000151284	0	0
DCN	1634	broad.mit.edu	37	12	91545434	91545434	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:91545434G>A	uc001tbt.3	-	6	1136	c.882C>T	c.(880-882)atC>atT	p.I294I	DCN_uc001tbo.3_Silent_p.I185I|DCN_uc001tbp.3_Silent_p.I147I|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Silent_p.I294I	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	294					organ morphogenesis	extracellular space		p.Y293C(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GCATTACCTGGATGTACTTAT	0.502000														30			20		0	0	0.000229342	0	0
ARMC8	25852	broad.mit.edu	37	3	137956200	137956201	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:137956200_137956201CC>AA	uc003esa.1	+	8	984_985	c.617_618CC>AA	c.(616-618)ccc>cAA	p.P206Q	ARMC8_uc003erw.3_Missense_Mutation_p.P206Q|ARMC8_uc003erx.3_Missense_Mutation_p.P206Q|ARMC8_uc003ery.3_Missense_Mutation_p.P178Q|ARMC8_uc011bmf.1_Missense_Mutation_p.P189Q|ARMC8_uc011bmg.1_Missense_Mutation_p.P220Q|ARMC8_uc011bmh.1_Missense_Mutation_p.P147Q|ARMC8_uc003esb.1_Missense_Mutation_p.P178Q|ARMC8_uc003esc.1_5'UTR	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	220							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTTGAAAACCCCCAGGTATCGA	0.342000														494			16		0	0	6.4e-05	0	0
OR2M5	127059	broad.mit.edu	37	1	248309067	248309067	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:248309067G>A	uc010pze.2	+	0	618	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTATAGTAATGATTGTTTTTC	0.408000														94			15		0	0	0.000566183	0	0
BAG6	7917	broad.mit.edu	37	6	31608078	31608079	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:31608078_31608079CC>AA	uc003nvg.4	-	22	3367_3368	c.3053_3054GG>TT	c.(3052-3054)tgg>tTT	p.W1018F	BAG6_uc003nvf.4_Missense_Mutation_p.W1012F|BAG6_uc003nvi.4_Missense_Mutation_p.W1012F|BAG6_uc003nvh.4_Missense_Mutation_p.W1012F|BAG6_uc011dnw.2_Missense_Mutation_p.W1012F|BAG6_uc011dnx.2_Missense_Mutation_p.W838F	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	1018					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TAATAGGGACCCATTCCTGGGG	0.535000														316			10		0	0	6.4e-05	0	0
HTT	3064	broad.mit.edu	37	4	3148573	3148574	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:3148573_3148574GG>TT	uc021xkv.1	+	24	3338_3339	c.3193_3194GG>TT	c.(3193-3195)ggg>TTg	p.G1065L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1065					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTACCGTTGGGATGGCCACA	0.465000														785			21		0	0	6.4e-05	0	0
XDH	7498	broad.mit.edu	37	2	31610747	31610747	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:31610747G>A	uc002rnv.1	-	7	660	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	194					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)	TTTGAATAAAGATGGCGAGAG	0.532000														4			8		0	0	3.86212e-05	0	0
CDH6	1004	broad.mit.edu	37	5	31267592	31267592	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:31267592C>T	uc003jhe.2	+	1	372	c.12C>T	c.(10-12)taC>taT	p.Y4Y	CDH6_uc003jhd.2_Silent_p.Y4Y	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGAGAACTTACCGCTACTTCT	0.532000														41			13		0	0	0.000308642	0	0
APOB	338	broad.mit.edu	37	2	21233384	21233385	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:21233384_21233385GG>TT	uc002red.3	-	25	6483_6484	c.6355_6356CC>AA	c.(6355-6357)cca>AAa	p.P2119K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2119	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCTTGCTGTGGGAGTTTTCCC	0.371000														387			10		0	0	6.4e-05	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141025	143141025	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:143141025C>T	uc011ktg.2	+	0	480	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	160					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTCTATTTTTCATAGGCAACC	0.453000														104			102		0	0	0.000147903	0	0
TATDN2	9797	broad.mit.edu	37	3	10302271	10302272	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:10302271_10302272GG>TT	uc011atr.2	+	2	1446_1447	c.865_866GG>TT	c.(865-867)ggg>TTg	p.G289L	TATDN2_uc003bvg.2_Missense_Mutation_p.G289L|TATDN2_uc003bvf.3_Missense_Mutation_p.G289L|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	289						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGAGCCCCTTGGGGACCGAAGG	0.490000														125			6		0	0	6.4e-05	0	0
DDHD1	80821	broad.mit.edu	37	14	53539401	53539401	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:53539401G>T	uc001xai.3	-	5	1647	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	DDHD1_uc001xaj.3_Missense_Mutation_p.P480T|DDHD1_uc001xah.3_Missense_Mutation_p.P473T|DDHD1_uc001xag.3_Missense_Mutation_p.P55T	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	473					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ACTTTGTCAGGAGTAATGGAA	0.333000														26			23		4.7796e-09	8.15197e-08	9.22233e-05	1	0
AMY2B	280	broad.mit.edu	37	1	104121994	104121995	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:104121994_104121995GG>TT	uc010ouo.2	+	21	3112_3113	c.1408_1409GG>TT	c.(1408-1410)gga>TTa	p.G470L	AMY2B_uc001duq.3_Missense_Mutation_p.G470L|AMY2B_uc001dur.3_Missense_Mutation_p.G470L|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	470					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G470*(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGTCATTTCTGGAGATAAAATT	0.342000														333			9		0	0	6.4e-05	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877767	76877767	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:76877767T>G	uc001dhh.2	+	2	451	c.288T>G	c.(286-288)aaT>aaG	p.N96K	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.N96K|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.N31K	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	96					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGGTGGGAAATGAGATAGATC	0.473000														16			4		0	0	0.000602214	0	0
ZNF16	7564	broad.mit.edu	37	8	146157649	146157650	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:146157649_146157650GG>TT	uc003zet.3	-	3	710_711	c.523_524CC>AA	c.(523-525)cct>AAt	p.P175N	ZNF16_uc003zeu.3_Missense_Mutation_p.P175N	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTCTTCTGTAGGGATTTCCTGA	0.535000														234			12		0	0	6.4e-05	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605586	159605586	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:159605586G>A	uc003fcq.2	+	7	1495	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	IQCJ-SCHIP1_uc003fcr.2_Silent_p.K411K|IQCJ-SCHIP1_uc003fcs.2_Silent_p.K362K|IQCJ-SCHIP1_uc003fct.2_Silent_p.K349K|IQCJ-SCHIP1_uc021xgm.1_Silent_p.K130K|IQCJ-SCHIP1_uc010hvz.1_Silent_p.K322K|IQCJ-SCHIP1_uc003fcu.2_Silent_p.K119K	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	362						cytoplasm	identical protein binding|protein binding	p.K438N(2)|p.K362N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CAAGGCAAAAGAAATTGCAAG	0.453000														135			33		0	0	0.000409698	0	0
NGDN	25983	broad.mit.edu	37	14	23946554	23946554	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:23946554C>T	uc001wjy.3	+	8	886	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	NGDN_uc001wjz.3_Missense_Mutation_p.H287Y	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	287					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGGAACTGTTCATCTTGATGA	0.448000														98			47		0	0	0.000147903	0	0
TCF4	6925	broad.mit.edu	37	18	53254312	53254312	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:53254312C>T	uc002lga.3	-	2	402	c.342G>A	c.(340-342)acG>acA	p.T114T	TCF4_uc010xdx.1_5'Flank|TCF4_uc021ukj.1_Silent_p.T12T|TCF4_uc021ukk.1_Silent_p.T12T|TCF4_uc021ukl.1_Intron|TCF4_uc002lfz.2_Silent_p.T12T|TCF4_uc010dph.1_Silent_p.T12T|TCF4_uc010dpi.3_Silent_p.T12T|TCF4_uc010xdy.1_Intron|TCF4_uc021uko.1_Non-coding_Transcript|TCF4_uc021ukp.1_Intron	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	12					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTCTTTGTCCGTCCCTAAGG	0.408000														73			12		0	0	0.000151284	0	0
SQLE	6713	broad.mit.edu	37	8	126021462	126021462	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:126021462C>T	uc011liq.2	+	5	1911	c.985C>T	c.(985-987)Ccg>Tcg	p.P329S		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	329					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	p.P328L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTAGCTAACCCGAGTCCAGT	0.323000														218			53		0	0	0.000147903	0	0
LEPR	3953	broad.mit.edu	37	1	66087038	66087038	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:66087038G>A	uc001dci.3	+	17	2883	c.2494G>A	c.(2494-2496)Gat>Aat	p.D832N	LEPR_uc001dcg.3_Missense_Mutation_p.D832N|LEPR_uc001dch.3_Missense_Mutation_p.D832N|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.D832N|LEPR_uc001dcj.3_Missense_Mutation_p.D832N|LEPR_uc001dck.3_Missense_Mutation_p.D832N	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	832					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTTTTCAGATGATATTGAAAA	0.289000														37			34		0	0	0.000132358	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748549	62748549	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:62748549C>T	uc001nwk.3	-	5	1278	c.945G>A	c.(943-945)aaG>aaA	p.K315K	SLC22A6_uc001nwl.3_Silent_p.K315K|SLC22A6_uc001nwj.3_Silent_p.K315K|SLC22A6_uc001nwm.3_Silent_p.K315K	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	315					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGTCAGCTCCTTCTGCAGAC	0.652000														27			4		0	0	0.00024832	0	0
ERCC6	2074	broad.mit.edu	37	10	50681610	50681610	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:50681610G>A	uc001jhs.4	-	13	2776	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F	ERCC6_uc009xod.3_Silent_p.F34F|ERCC6_uc010qgr.2_Silent_p.F244F|ERCC6_uc001jhr.4_Silent_p.F242F	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	874	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGGCTCTAAGGAATACTTCAA	0.413000								Direct reversal of damage;Nucleotide excision repair (NER)						65			41		0	0	0.000147903	0	0
INSR	3643	broad.mit.edu	37	19	7119573	7119574	+	Missense_Mutation	DNP	CC	AA	AA	rs143017342		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:7119573_7119574CC>AA	uc002mgd.1	-	20	3789_3790	c.3680_3681GG>TT	c.(3679-3681)tgg>tTT	p.W1227F	INSR_uc002mge.1_Missense_Mutation_p.W1215F	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1227	Protein kinase.		W -> S (in IRAN type A).		G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGTGATTTCCCAAAGGACCAC	0.500000														283			9		0	0	6.4e-05	0	0
RPL23P8	222901	broad.mit.edu	37	7	20867103	20867103	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:20867103C>T	uc011jyj.1	+	0		c.187C>T								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		ACAGACTTCCCGCTGCTGGTG	0.493000														25			8		0	0	0.000274275	0	0
EDN3	1908	broad.mit.edu	37	20	57876671	57876672	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:57876671_57876672GG>AA	uc002yap.3	+	1	628_629	c.259_260GG>AA	c.(259-261)ggg>AAg	p.G87K	EDN3_uc002yao.1_Missense_Mutation_p.G87K|EDN3_uc002yaq.3_Missense_Mutation_p.G87K|EDN3_uc002yar.3_Missense_Mutation_p.G87K|EDN3_uc002yas.3_Missense_Mutation_p.G87K	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	87					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GGCGGCCGAGGGGGCCCCTGAG	0.639000														44			39		0	0	6.4e-05	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741753	94741753	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:94741753C>T	uc001ycs.1	+	23	2646	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	831						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTTCCATCTTCCTTTTCTCCT	0.438000														51			12		0	0	0.000219431	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864151	144864151	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:144864151G>C	uc021ouh.1	-	35	6246	c.5944C>G	c.(5944-5946)Cag>Gag	p.Q1982E	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q1982E|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q1876E|PDE4DIP_uc001elv.4_Missense_Mutation_p.Q989E|PDE4DIP_uc001ema.3_Missense_Mutation_p.Q169E	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1982					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGTTTTCCTGGAGGGAAAGA	0.483000			T	PDGFRB	MPD									522			35		0	0	0.000319135	0	0
HPGDS	27306	broad.mit.edu	37	4	95255745	95255745	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:95255745C>T	uc003hte.1	-	1	127	c.36G>A	c.(34-36)agG>agA	p.R12R		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	12	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CTGCTCTCCCCCTCATATTAA	0.368000														67			11		0	0	0.00010058	0	0
CSMD1	64478	broad.mit.edu	37	8	2815330	2815330	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:2815330C>T	uc022aqr.1	-	63	10093	c.9703_splice	c.e63-1	p.V3235_splice	CSMD1_uc011kwj.2_Splice_Site_p.V2565_splice|CSMD1_uc010lrg.3_Splice_Site_p.V1127_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3236	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTTCCAACCTAGAGAGGAA	0.458000														5			3		0	0	6.4e-05	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681104	106681104	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:106681104C>T	uc009yxn.1	-	4	1697	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	GUCY1A2_uc001pjg.1_Missense_Mutation_p.R436Q|GUCY1A2_uc010rvo.1_Missense_Mutation_p.R457Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	436					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.G435G(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATGTAGCCCTCGGCCCATGAG	0.463000														8			9		0	0	3.86212e-05	0	0
PSG11	5680	broad.mit.edu	37	19	43522923	43522923	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:43522923G>A	uc002ovm.1	-	3	816	c.709_splice	c.e3+1	p.H237_splice	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Splice_Site_p.H115_splice|PSG11_uc002ovo.1_Splice_Site_p.H115_splice	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	237					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATACTCACGGAGGAGATTCA	0.522000														125			34		0	0	0.000125731	0	0
FAM69B	138311	broad.mit.edu	37	9	139616675	139616675	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:139616675G>A	uc004cik.3	+	3	499	c.405G>A	c.(403-405)cgG>cgA	p.R135R	FAM69B_uc004cil.3_Silent_p.R48R|SNHG7_uc004cim.2_Non-coding_Transcript	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA.	135						endoplasmic reticulum membrane|integral to membrane		p.R135Q(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CCCCCCGGCGGGAGCTGGTAC	0.627000														15			5		0	0	3.59834e-05	0	0
HMGCR	3156	broad.mit.edu	37	5	74643039	74643040	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:74643039_74643040GG>TT	uc011cst.2	+	5	773_774	c.521_522GG>TT	c.(520-522)agg>aTT	p.R174I	HMGCR_uc003kdp.3_Missense_Mutation_p.R154I|HMGCR_uc003kdq.3_Missense_Mutation_p.R154I|HMGCR_uc010izn.1_5'UTR	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	154					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GATGAAGTAAGGGAAAATATTG	0.366000														588			18		0	0	6.4e-05	0	0
GPATCH3	63906	broad.mit.edu	37	1	27217608	27217608	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:27217608C>T	uc001bne.3	-	6	1500	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	BC016143_uc021ojq.1_Intron|GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.2_Missense_Mutation_p.E302K	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	491						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGACTCCGTCTGGTCT	0.567000														19			14		0	0	0.000422831	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68044880	68044880	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:68044880C>T	uc001xjl.1	+	18	2857	c.2715C>T	c.(2713-2715)acC>acT	p.T905T	PLEKHH1_uc010tsw.1_Silent_p.T473T|PLEKHH1_uc001xjn.1_Silent_p.T420T|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	905	MyTH4.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGAAGCAGACCAGCTGCCGCC	0.612000														35			6		0	0	8.12818e-05	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:13418659G>A	uc002mwy.3	-	14	2159	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000														62			27		0	0	0.000279167	0	0
AK300121	0	broad.mit.edu	37	12	52647088	52647088	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:52647088C>T	uc010snr.1	-	5	779	c.431G>A	c.(430-432)gGg>gAg	p.G144E	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		CAGGGTCTCCCCGTGCCTGAT	0.597000														20			7		0	0	0.000274275	0	0
FAM167A	83648	broad.mit.edu	37	8	11301725	11301725	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:11301725C>T	uc010lry.1	-	1	816	c.196G>A	c.(196-198)Gag>Aag	p.E66K	FAM167A_uc003wtw.2_Missense_Mutation_p.E66K	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA.	66										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GCCTGTGGCTCCGCAGCCGGC	0.697000														38			5		0	0	0.000602214	0	0
OR5K4	403278	broad.mit.edu	37	3	98073124	98073124	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:98073124C>T	uc011bgv.2	+	0	427	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCTCTGCATTCGGATGACCAC	0.478000														42			9		0	0	0.000442599	0	0
SAMD7	344658	broad.mit.edu	37	3	169656285	169656285	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:169656285G>A	uc003fgd.3	+	8	1599	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	SAMD7_uc003fge.3_Missense_Mutation_p.M444I|SAMD7_uc011bpo.2_Missense_Mutation_p.M345I	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	444										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAGGTAGTATGAGAAACTAAA	0.408000														15			5		0	0	8.12818e-05	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911905	158911905	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:158911905C>T	uc001ftb.3	+	4	968	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	PYHIN1_uc001ftc.3_Missense_Mutation_p.H231Y|PYHIN1_uc001ftd.3_Missense_Mutation_p.H240Y|PYHIN1_uc001fte.3_Missense_Mutation_p.H231Y	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	240	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAGAATGTTTCATGCTACAGT	0.318000														40			17		0	0	0.000229342	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18500292	18500293	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:18500292_18500293CC>AA	uc001mop.1	+	7	1135_1136	c.874_875CC>AA	c.(874-876)cca>AAa	p.P292K	LDHAL6A_uc001moq.2_Missense_Mutation_p.P292K	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	292					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding	p.P292Q(2)		large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	CCTTAGTGTCCCATGTATCCTG	0.371000														278			13		0	0	6.4e-05	0	0
TAF1L	138474	broad.mit.edu	37	9	32632781	32632781	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:32632781C>T	uc003zrg.1	-	0	2887	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	933					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTCATTTTCTTCTTCTGGG	0.463000														91			18		0	0	0.000175454	0	0
PWP2	5822	broad.mit.edu	37	21	45538649	45538649	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr21:45538649C>T	uc002zeb.3	+	8	1076	c.986C>T	c.(985-987)tCa>tTa	p.S329L		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	329						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGCAGCATTTCAGATCAGAGC	0.602000														16			7		0	0	0.000274275	0	0
NLRP3	114548	broad.mit.edu	37	1	247588789	247588789	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:247588789G>A	uc001icr.3	+	4	2182	c.2044G>A	c.(2044-2046)Ggg>Agg	p.G682R	NLRP3_uc001ics.3_Missense_Mutation_p.G682R|NLRP3_uc001icu.3_Missense_Mutation_p.G682R|NLRP3_uc001icw.3_Missense_Mutation_p.G682R|NLRP3_uc001icv.3_Missense_Mutation_p.G682R|NLRP3_uc010pyw.2_Missense_Mutation_p.G680R|NLRP3_uc001ict.1_Missense_Mutation_p.G680R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	682					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTGTCCCTGGGGTTTCTCCA	0.507000														39			8		0	0	0.000442599	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250010	140250010	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:140250010C>T	uc003lia.2	+	0	2180	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	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_uc011dae.2_Missense_Mutation_p.S441F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	456	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T440T(1)		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)			GCCAGGGTATCCGTGGAGGTG	0.637000														76			24		0	0	0.00047179	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006398	16006398	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:16006398G>A	uc002nbs.1	-	2	311	c.261C>T	c.(259-261)ggC>ggT	p.G87G	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	87					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGACCTTAAAGCCCTGGGGGT	0.572000														46			35		0	0	0.000319135	0	0
OR56B1	387748	broad.mit.edu	37	11	5758241	5758241	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:5758241C>T	uc001mbt.2	+	0	564	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.V165V|OR56B1_uc009yev.1_Silent_p.V165V	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTTATTTGTCACTCCAGTGC	0.463000														35			6		0	0	0.000157383	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919929	12919929	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:12919929G>A	uc001aum.1	+	2	756	c.669G>A	c.(667-669)aaG>aaA	p.K223K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	223										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATAAGAAAGCTTTATTGTT	0.388000														164			30		0	0	0.000227799	0	0
KCNK5	8645	broad.mit.edu	37	6	39162039	39162039	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:39162039G>A	uc003oon.3	-	3	904	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	180					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572000														40			11		0	0	6.40141e-05	0	0
BMP2	650	broad.mit.edu	37	20	6759494	6759494	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:6759494C>T	uc002wmu.1	+	2	1734	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	317					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GATTGTGGCTCCCCCGGGGTA	0.512000														47			10		0	0	6.40141e-05	0	0
SCN4A	6329	broad.mit.edu	37	17	62019255	62019255	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:62019255G>A	uc002jds.1	-	23	4464	c.4387C>T	c.(4387-4389)Cgc>Tgc	p.R1463C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1463					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TTGGCCCCGCGGATCAGCCGC	0.617000														17			6		0	0	8.12818e-05	0	0
COL4A1	1282	broad.mit.edu	37	13	110847425	110847425	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:110847425C>T	uc001vqw.4	-	21	1448	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	442	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			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)			CAGGAGGACCCTGGTCACCTG	0.433000														79			15		0	0	0.000132079	0	0
TDRD6	221400	broad.mit.edu	37	6	46659643	46659643	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:46659643G>T	uc003oyj.3	+	0	4032	c.3778G>T	c.(3778-3780)Gaa>Taa	p.E1260*	TDRD6_uc010jze.3_Nonsense_Mutation_p.E1260*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1260					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAGAAAGAAGAAATTTCTGC	0.328000														120			8		0.000157383	0.00265423	0.000157383	1	0
TBC1D5	9779	broad.mit.edu	37	3	17300077	17300077	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:17300077G>A	uc010hev.3	-	16	1516	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	TBC1D5_uc010heu.3_Missense_Mutation_p.P5S|TBC1D5_uc003cbf.3_Missense_Mutation_p.P418S|TBC1D5_uc003cbe.3_Missense_Mutation_p.P418S|TBC1D5_uc010hew.1_Missense_Mutation_p.P370S	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	418						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACTGGTCTTGGATTTCTCTAA	0.318000														81			105		0	0	0.000147903	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6873748	6873748	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:6873748G>A	uc002knc.3	+	8	4241	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	ARHGAP28_uc002kne.3_Missense_Mutation_p.V237M|ARHGAP28_uc010wzi.2_Missense_Mutation_p.V219M|ARHGAP28_uc002knf.3_Missense_Mutation_p.V228M	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	219					signal transduction	intracellular		p.A343V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGACCCTGGAGTGAAAGTTCC	0.428000														15			6		0	0	3.59834e-05	0	0
KLK3	354	broad.mit.edu	37	19	51363270	51363270	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:51363270G>A	uc021uyi.1	+	4	714	c.673G>A	c.(673-675)Ggt>Agt	p.G225S	KLK3_uc002pts.1_3'UTR|KLK3_uc002ptr.1_Missense_Mutation_p.G182S|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	225	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGTGCTTCAAGGTATCACGTC	0.542000														41			14		0	0	0.000422831	0	0
SENP7	57337	broad.mit.edu	37	3	101212726	101212726	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:101212726G>A	uc003dut.3	-	2	288	c.177C>T	c.(175-177)ctC>ctT	p.L59L	SENP7_uc003duu.3_Silent_p.L59L|SENP7_uc003duv.3_Silent_p.L26L|SENP7_uc003duw.3_Silent_p.L59L|SENP7_uc003dux.3_Silent_p.L26L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	59					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGCAAAGGGAGAGTCCAGC	0.303000														82			28		0	0	0.000339439	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41039586	41039586	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:41039586G>T	uc003jmj.4	-	19	2515	c.2025C>A	c.(2023-2025)ttC>ttA	p.F675L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.F230L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	675							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCTGATTTTGGAATGTTTTAA	0.333000														25			9		1.12685e-05	0.000190863	0.000274275	1	0
OR13C2	392376	broad.mit.edu	37	9	107367383	107367383	+	Missense_Mutation	SNP	G	A	A	rs149514294		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:107367383G>A	uc011lvq.2	-	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176Y(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CAGGTGAAATGATTGATGATG	0.443000														51			15		0	0	9.7654e-05	0	0
NUMB	8650	broad.mit.edu	37	14	73746042	73746042	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:73746042G>A	uc001xny.1	-	11	1507	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Intron|NUMB_uc001xnz.1_Missense_Mutation_p.P385L|NUMB_uc001xob.1_Intron|NUMB_uc001xod.1_Intron|NUMB_uc001xoc.1_Missense_Mutation_p.P396L|NUMB_uc010ars.1_Missense_Mutation_p.P385L|NUMB_uc010ttz.1_Intron|NUMB_uc001xoe.3_5'Flank	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	396					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGGGCCCAAGGGTTGGTTTC	0.537000														62			8		0	0	0.000157383	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461023	5461023	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:5461023G>T	uc003jdm.4	+	12	1798	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	526										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						AGCTGCCCCTGGGAAGTCTGA	0.453000														167			7		8.12818e-05	0.00137435	8.12818e-05	1	0
DNMT3B	1789	broad.mit.edu	37	20	31394046	31394046	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:31394046C>T	uc002wyc.3	+	21	2654	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	DNMT3B_uc002wyd.3_Missense_Mutation_p.S758L|DNMT3B_uc002wye.3_Intron|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Intron|DNMT3B_uc002wyf.3_Missense_Mutation_p.S770L|DNMT3B_uc002wyg.3_Intron|DNMT3B_uc010geg.3_Intron|DNMT3B_uc010geh.3_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	778					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCACCAAGTCGAACTCGATC	0.448000														49			13		0	0	0.000219431	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007428	93007428	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:93007428G>A	uc002bra.3	+	5	1096	c.941G>A	c.(940-942)gGc>gAc	p.G314D	ST8SIA2_uc002brb.3_Missense_Mutation_p.G293D	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	314					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACCTCTACGGCTTCTGGCCC	0.522000														52			19		0	0	0.000229342	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4408059	4408059	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:4408059A>T	uc002cwf.3	-	24	2946	c.2503T>A	c.(2503-2505)Tgg>Agg	p.W835R	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.W615R|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.W835R|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.W817R|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.W750R|CORO7-PAM16_uc002cwi.1_3'UTR	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		ACAGGCTCCCAGATCACAGCC	0.617000														16			12		0	0	0.00010058	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891985	173891986	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:173891985_173891986CC>AA	uc002uhv.4	+	24	2743_2744	c.2556_2557CC>AA	c.(2554-2559)gcccac>gcAAac	p.H853N	RAPGEF4_uc002uhw.4_Missense_Mutation_p.H709N	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	853	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGATAGCAGCCCAGTAAGTATA	0.342000														73			6		0	0	6.4e-05	0	0
C8A	731	broad.mit.edu	37	1	57341833	57341833	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:57341833G>A	uc001cyo.2	+	3	547	c.415G>A	c.(415-417)Gac>Aac	p.D139N		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	139	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CATTGACGAAGACTGCAGCCA	0.522000														28			5		0	0	0.000602214	0	0
LPAL2	80350	broad.mit.edu	37	6	160932074	160932074	+	RNA	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:160932074C>T	uc003qtj.2	-	0		c.83G>A			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAAAGTGTGTCCCAATCCCAG	0.418000														74			66		0	0	0.000147903	0	0
CLVS1	157807	broad.mit.edu	37	8	62370879	62370879	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:62370879G>A	uc003xuh.3	+	4	1079	c.755G>A	c.(754-756)gGa>gAa	p.G252E	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	252	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.H251H(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTCCTGCATGGAAACAATTTA	0.378000														123			60		0	0	0.000147903	0	0
C6	729	broad.mit.edu	37	5	41149408	41149408	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:41149408G>A	uc003jmk.2	-	16	2768	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	C6_uc003jml.1_Missense_Mutation_p.S853L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	853	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGTTGGATGAAAGTCTTGT	0.423000														47			38		0	0	0.000159656	0	0
INTS8	55656	broad.mit.edu	37	8	95862268	95862269	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:95862268_95862269CC>AA	uc003yhb.3	+	11	1582_1583	c.1456_1457CC>AA	c.(1456-1458)cct>AAt	p.P486N	INTS8_uc003yha.1_Missense_Mutation_p.P486N|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P313N	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	486					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GAAGAGATCCCCTAGAGTAAAT	0.391000														696			20		0	0	6.4e-05	0	0
CPT1C	126129	broad.mit.edu	37	19	50208012	50208012	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:50208012C>T	uc010eng.3	+	7	1055	c.739C>T	c.(739-741)Ccg>Tcg	p.P247S	CPT1C_uc002ppl.4_Missense_Mutation_p.P213S|CPT1C_uc002ppi.3_Missense_Mutation_p.P164S|CPT1C_uc002ppk.3_Missense_Mutation_p.P247S|CPT1C_uc010enh.3_Missense_Mutation_p.P247S|CPT1C_uc002ppj.3_Missense_Mutation_p.P247S|CPT1C_uc010ybc.1_Missense_Mutation_p.P85S|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	247					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCCCGAAATCCGCTGATGGT	0.607000														33			9		0	0	6.40141e-05	0	0
ZNF618	114991	broad.mit.edu	37	9	116812003	116812003	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:116812003C>T	uc004bid.3	+	14	2520	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	ZNF618_uc004bic.3_Silent_p.I714I|ZNF618_uc011lxi.2_Silent_p.I774I|ZNF618_uc011lxj.2_Silent_p.I775I|ZNF618_uc010mvb.3_Silent_p.I397I	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGGCCATGATCCTGGACCCGC	0.617000														35			10		0	0	3.86212e-05	0	0
VPS13B	157680	broad.mit.edu	37	8	100796656	100796656	+	Silent	SNP	G	A	A	rs145460276		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:100796656G>A	uc003yiv.3	+	42	8079	c.7968G>A	c.(7966-7968)gcG>gcA	p.A2656A	VPS13B_uc003yiw.3_Silent_p.A2631A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2656					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTGCTGGCGAGTCTCCACA	0.473000														38			13		0	0	0.00010058	0	0
EIF2C2	27161	broad.mit.edu	37	8	141566090	141566090	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:141566090G>A	uc003yvn.3	-	9	1215	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	EIF2C2_uc010meo.3_Missense_Mutation_p.P392S|EIF2C2_uc010men.3_Missense_Mutation_p.P315S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	392					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CGGACGTATGGATCTGTGTTG	0.562000														66			35		0	0	0.000319135	0	0
ADAM30	11085	broad.mit.edu	37	1	120437263	120437264	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:120437263_120437264GG>TT	uc001eij.3	-	0	1884_1885	c.1696_1697CC>AA	c.(1696-1698)cct>AAt	p.P566N		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	566	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGCAAATCAGGGATGGTTTCA	0.386000														793			20		0	0	6.4e-05	0	0
SRGAP2	23380	broad.mit.edu	37	1	206619523	206619523	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:206619523C>T	uc001hdy.3	+	14	1717	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S	SRGAP2_uc010prt.1_Silent_p.S495S|SRGAP2_uc001hdx.3_Silent_p.S572S|SRGAP2_uc010pru.2_Silent_p.S571S|SRGAP2_uc010prv.1_Silent_p.S496S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	659	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACCAGGTGTCCTGCCAAGCCC	0.557000														41			12		0	0	0.000151284	0	0
ODZ4	26011	broad.mit.edu	37	11	78443359	78443359	+	Splice_Site	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:78443359A>G	uc001ozl.4	-	21	3601	c.3138_splice	c.e21+1	p.Q1046_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1046					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						AAAGCTGGGTACCTGAATTTC	0.517000														50			4		0	0	0.000602214	0	0
ARMC8	25852	broad.mit.edu	37	3	137942489	137942490	+	Missense_Mutation	DNP	CC	AA	AA	rs111530888		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:137942489_137942490CC>AA	uc003esa.1	+	5	674_675	c.307_308CC>AA	c.(307-309)cca>AAa	p.P103K	ARMC8_uc003erw.3_Missense_Mutation_p.P103K|ARMC8_uc003erx.3_Missense_Mutation_p.P103K|ARMC8_uc003ery.3_Missense_Mutation_p.P75K|ARMC8_uc011bmf.1_Missense_Mutation_p.P117K|ARMC8_uc011bmg.1_Missense_Mutation_p.P117K|ARMC8_uc011bmh.1_Missense_Mutation_p.P75K|ARMC8_uc003esb.1_Missense_Mutation_p.P75K	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	117							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACTACTGTCCCCAGACCTGAAG	0.406000														526			17		0	0	6.4e-05	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513489	149513489	+	Missense_Mutation	SNP	G	C	C	rs41287114	byFrequency	TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:149513489G>C	uc003lro.3	-	4	1183	c.714C>G	c.(712-714)atC>atG	p.I238M	PDGFRB_uc010jhd.3_Missense_Mutation_p.I77M|PDGFRB_uc011dcg.1_Missense_Mutation_p.I238M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	238	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCATTCCCGATCACAATGC	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									52			7		0	0	0.000274275	0	0
ADCY2	108	broad.mit.edu	37	5	7743806	7743807	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:7743806_7743807GG>TT	uc003jdz.1	+	14	1964_1965	c.1897_1898GG>TT	c.(1897-1899)ggg>TTg	p.G633L	ADCY2_uc011cmo.1_Missense_Mutation_p.G453L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	633					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.G633V(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCTCCTTTGGGGCTGCGTTT	0.480000														225			8		0	0	6.4e-05	0	0
AMOTL2	51421	broad.mit.edu	37	3	134086519	134086519	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:134086519G>A	uc003eqf.2	-	2	1152	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	AMOTL2_uc003eqg.1_Silent_p.S287S|AMOTL2_uc003eqh.1_Silent_p.S287S|AMOTL2_uc003eqe.1_5'Flank	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	287										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GTGGACTGAGGGAGCTCAGGG	0.662000														15			9		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9005597	9005597	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:9005597C>T	uc002mkp.3	-	45	40013	c.39809G>A	c.(39808-39810)gGa>gAa	p.G13270E	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G87E|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13272	SEA 8.				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						GGTGTAGGGTCCCAGCTCAGT	0.557000														95			10		0	0	3.86212e-05	0	0
GATA2	2624	broad.mit.edu	37	3	128205201	128205201	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr3:128205201G>A	uc003ekm.3	-	3	675	c.240C>T	c.(238-240)acC>acT	p.T80T	GATA2_uc003ekn.3_Silent_p.T80T|GATA2_uc003eko.2_Silent_p.T80T	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	80					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTGGCCTCCGGTCAGGCGGG	0.647000			Mis		AML(CML blast transformation)									13			4		0	0	8.12818e-05	0	0
APC	324	broad.mit.edu	37	5	112178058	112178058	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:112178058C>T	uc003kpz.4	+	16	6960	c.6767C>T	c.(6766-6768)cCa>cTa	p.P2256L	APC_uc011cvt.2_Missense_Mutation_p.P2238L|APC_uc003kpy.4_Missense_Mutation_p.P2256L|APC_uc010jbz.3_Missense_Mutation_p.P1973L|APC_uc010jca.3_Missense_Mutation_p.P1556L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2256	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTAAGACTCCAGCCTCCAAA	0.478000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				29			21		0	0	0.000295444	0	0
GSDMA	284110	broad.mit.edu	37	17	38133095	38133095	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:38133095C>T	uc002htl.1	+	11	1240	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	GSDMA_uc002htm.1_Silent_p.F374F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	374					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AACAGAACTTCCTGCTGGATA	0.522000														73			19		0	0	0.000132079	0	0
DGAT2	84649	broad.mit.edu	37	11	75501706	75501706	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:75501706G>A	uc001oxa.3	+	4	618	c.359_splice	c.e4-1	p.G120_splice	DGAT2_uc001oxb.3_Splice_Site_p.G77_splice	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	120					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					TCCCTGGAAGGTGGCAGGAGG	0.542000														93			14		0	0	7.07596e-05	0	0
abParts	0	broad.mit.edu	37	14	106091232	106091232	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:106091232C>T	uc021ser.1	-	4455		c.71420_splice	c.e4455+1		DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron					Parts of antibodies, mostly variable regions.																		GTGGGTCCCACCTTTGGCTTT	0.617000														117			19		0	0	0.000175454	0	0
IL12RB1	3594	broad.mit.edu	37	19	18186603	18186603	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:18186603C>T	uc002nhx.1	-	7	827	c.776G>A	c.(775-777)gGa>gAa	p.G259E	IL12RB1_uc002nhw.1_Missense_Mutation_p.G219E|IL12RB1_uc010xqb.1_Missense_Mutation_p.G219E|IL12RB1_uc002nhy.3_Missense_Mutation_p.G219E	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	219	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCAGGAACTTCCTTGGCTCCC	0.587000														55			12		0	0	0.00010058	0	0
VPS13D	55187	broad.mit.edu	37	1	12428569	12428570	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:12428569_12428570CG>AT	uc001atv.3	+	52	10636_10637	c.10495_10496CG>AT	c.(10495-10497)cga>ATa	p.R3499I	VPS13D_uc001atw.3_Missense_Mutation_p.R3474I|VPS13D_uc001atx.3_Missense_Mutation_p.R2686I|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.	3498					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)		AATTACTCTCCGAGGAGCTACG	0.441000														136			6		0	0	6.4e-05	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022237	51022237	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:51022237G>A	uc002pss.3	-	2	870	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	245						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGCCCGGGCGGATCAGGTCC	0.657000														8			5		0	0	0.000602214	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115608801	115608802	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr10:115608801_115608802GG>TT	uc001law.2	-	1	2980_2981	c.2062_2063CC>AA	c.(2062-2064)cca>AAa	p.P688K		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	688					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGATGACTCTGGGATTTTCTTG	0.356000								Other identified genes with known or suspected DNA repair function						371			11		0	0	6.4e-05	0	0
SAMD9	54809	broad.mit.edu	37	7	92735364	92735364	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr7:92735364T>A	uc003umf.3	-	2	317	c.47A>T	c.(46-48)aAa>aTa	p.K16I	SAMD9_uc003umg.3_Missense_Mutation_p.K16I|SAMD9_uc022ahg.1_Missense_Mutation_p.K16I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	16	SAM.					cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACATCCTCTTTTGTCCAATC	0.318000														145			38		0	0	0.000589545	0	0
UNC5D	137970	broad.mit.edu	37	8	35606138	35606138	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr8:35606138C>T	uc003xjr.2	+	11	2188	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	UNC5D_uc003xjs.2_Silent_p.I615I|UNC5D_uc003xju.2_Silent_p.I196I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	620	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATTGACCATCCCGCACTGTG	0.498000														111			14		0	0	0.000566183	0	0
NBPF1	55672	broad.mit.edu	37	1	16913547	16913549	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:16913547_16913549GG>TT	uc009vos.1	-	10	1662_1664	c.774_776CC>AA	c.(772-777)ctccca>ctAAa	p.P259del	NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	259	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTTTA	0.399000														662			15		0	0	6.4e-05	0	0
GRM5	2915	broad.mit.edu	37	11	88300835	88300835	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:88300835G>A	uc001pcq.3	-	6	2216	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	GRM5_uc009yvm.3_Silent_p.I672I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	672					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGCCAGCCAGGATCCTTGCAA	0.478000														33			8		0	0	0.000157383	0	0
F7	2155	broad.mit.edu	37	13	113771173	113771173	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:113771173G>A	uc001vsv.3	+	6	716	c.665G>A	c.(664-666)gGg>gAg	p.G222E	F7_uc010agp.1_Missense_Mutation_p.G215E|F7_uc001vsw.3_Missense_Mutation_p.G200E|F7_uc010tjt.2_Missense_Mutation_p.G153E	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	222	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGCCCCAAAGGGGAGTGTCCA	0.488000														44			12		0	0	0.000151284	0	0
SEMA6A	57556	broad.mit.edu	37	5	115813769	115813769	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:115813769G>A	uc003krx.4	-	13	2218	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	SEMA6A_uc010jck.3_Silent_p.F503F|SEMA6A_uc003krw.4_Silent_p.F35F|SEMA6A_uc010jcj.3_Silent_p.F47F	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	503	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CACAGGTAGAGAACGCAACAT	0.448000														40			18		0	0	7.07596e-05	0	0
C9orf131	138724	broad.mit.edu	37	9	35045092	35045092	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr9:35045092C>T	uc003zvw.3	+	1	2495	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	C9orf131_uc003zvu.3_Silent_p.F774F|C9orf131_uc003zvv.3_Silent_p.F749F|C9orf131_uc003zvx.3_Silent_p.F787F	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	822										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TTCCAGACTTCTGGGGACTCC	0.552000														227			25		0	0	0.000279167	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306825	2306825	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr4:2306825G>A	uc003gex.2	-	7	1562	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	ZFYVE28_uc011bvk.2_Silent_p.A344A|ZFYVE28_uc011bvl.2_Silent_p.A384A|ZFYVE28_uc003gew.2_Silent_p.A300A	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	414					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ACTCGGGCCTGGCCAGGGCTT	0.697000														68			8		0	0	0.000157383	0	0
PLCB3	5331	broad.mit.edu	37	11	64024120	64024120	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr11:64024120A>G	uc009ypi.3	+	9	1023	c.896A>G	c.(895-897)tAc>tGc	p.Y299C	PLCB3_uc009ypg.2_Missense_Mutation_p.Y299C|PLCB3_uc009yph.2_Missense_Mutation_p.Y232C	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	299					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TTTAGCCGCTACCTGGGAGGC	0.632000														23			7		0	0	0.000274275	0	0
ATP12A	479	broad.mit.edu	37	13	25265365	25265365	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr13:25265365G>A	uc010aaa.3	+	7	1396	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	ATP12A_uc001upp.3_Missense_Mutation_p.E349K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	349					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.E349K(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAATGTGCCCGAGGGCCTCCT	0.567000														17			7		0	0	3.86212e-05	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101883	82101883	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr16:82101883G>A	uc002fgv.3	+	1	546	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	125					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAGGAATTGCGAAGAACCTGC	0.527000														19			15		0	0	7.07596e-05	0	0
ZNF77	58492	broad.mit.edu	37	19	2933614	2933614	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:2933614G>A	uc002lws.4	-	3	1642	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGGACGAGGAACAACTGTA	0.498000														57			22		0	0	0.00047179	0	0
BAZ2A	11176	broad.mit.edu	37	12	56997418	56997418	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:56997418G>A	uc001slq.1	-	16	3305	c.3111C>T	c.(3109-3111)tgC>tgT	p.C1037C	BAZ2A_uc001slp.1_Silent_p.C1035C|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_Silent_p.C7C|BAZ2A_uc009zow.1_Silent_p.C1005C	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1037					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						TCCGTCCCAGGCATTCCTCTG	0.552000														74			16		0	0	7.07596e-05	0	0
DOCK2	1794	broad.mit.edu	37	5	169186739	169186739	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr5:169186739C>T	uc003maf.3	+	23	2487	c.2407C>T	c.(2407-2409)Ctg>Ttg	p.L803L	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.L295L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	803					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)			CCCATCTGTCCTGCATGATGT	0.453000														72			25		0	0	0.000227799	0	0
PAK3	5063	broad.mit.edu	37	X	110406200	110406200	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:110406200G>A	uc010npv.1	+	6	661	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	PAK3_uc010npt.1_Missense_Mutation_p.E176K|PAK3_uc010npu.1_Missense_Mutation_p.E176K|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.E176K|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.E197K|PAK3_uc004epa.2_Missense_Mutation_p.E191K	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	191	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agaagaagatgaagaggaaga	0.408000										TSP Lung(19;0.15)				30			20		0	0	0.000132079	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324795	86324795	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr6:86324795G>A	uc003pla.2	-	10	2092	c.1551C>T	c.(1549-1551)ccC>ccT	p.P517P	SYNCRIP_uc003pku.3_Silent_p.P517P|SYNCRIP_uc003pkv.3_Silent_p.P517P|SYNCRIP_uc003pkw.3_Silent_p.P482P|SYNCRIP_uc003pkx.3_Silent_p.P365P|SYNCRIP_uc003pky.3_Silent_p.P419P|SYNCRIP_uc003pkz.2_Silent_p.P482P	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	517	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTCTACCGCGGGGAGGAGCAG	0.577000														32			20		0	0	0.000229342	0	0
ARL4D	379	broad.mit.edu	37	17	41477138	41477138	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr17:41477138C>T	uc002idt.3	+	1	219	c.38C>T	c.(37-39)tCc>tTc	p.S13F	ARL4D_uc021txy.1_Missense_Mutation_p.S13F	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	13					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCCACTGCCTCCTCCTTCTTG	0.562000														46			9		0	0	3.86212e-05	0	0
DSC1	1823	broad.mit.edu	37	18	28711671	28711671	+	Silent	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr18:28711671G>A	uc002kwn.3	-	14	2635	c.2373C>T	c.(2371-2373)tcC>tcT	p.S791S	DSC1_uc002kwm.3_Silent_p.S791S|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	791					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCCTTTGTTGGAATCCAAAG	0.498000														35			20		0	0	9.22233e-05	0	0
NPL	80896	broad.mit.edu	37	1	182787806	182787806	+	Silent	SNP	C	T	T			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:182787806C>T	uc009wyb.3	+	8	1016	c.588C>T	c.(586-588)ttC>ttT	p.F196F	NPL_uc010pnx.2_Silent_p.F177F|NPL_uc010pny.2_Intron|NPL_uc001gpp.4_Silent_p.F196F|NPL_uc021pfz.1_Silent_p.F196F|NPL_uc009wyc.3_Silent_p.F196F|NPL_uc001gpo.2_Silent_p.F177F	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	196					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AGTTTGCTTTCCTTTTTGGGG	0.453000														16			10		0	0	3.86212e-05	0	0
LGR5	8549	broad.mit.edu	37	12	71976316	71976317	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:71976316_71976317CC>AA	uc001swl.3	+	16	1681_1682	c.1633_1634CC>AA	c.(1633-1635)cca>AAa	p.P545K	LGR5_uc001swm.3_Missense_Mutation_p.P521K|LGR5_uc021rar.1_Missense_Mutation_p.P473K|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	545						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCACCTTCCCCAGGTGAGAAA	0.450000														262			12		0	0	6.4e-05	0	0
FAM113B	91523	broad.mit.edu	37	12	47629357	47629357	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:47629357G>A	uc001rpq.3	+	1	1036	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	FAM113B_uc001rpn.3_Missense_Mutation_p.E171K|FAM113B_uc021qxi.1_Missense_Mutation_p.E171K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	171							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TGTGGGCGAGGAAGTCACCGG	0.617000														15			14		0	0	0.000308642	0	0
PEX14	5195	broad.mit.edu	37	1	10684419	10684419	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:10684419delC	uc001arn.3	+	6	531	c.510delC	c.(508-510)ctcfs	p.L170fs	PEX14_uc009vmv.3_Frame_Shift_Del_p.L106fs|PEX14_uc010oam.2_Frame_Shift_Del_p.L106fs|PEX14_uc010oan.2_Frame_Shift_Del_p.L127fs|PEX14_uc009vmw.3_Frame_Shift_Del_p.L106fs	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	170					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGACGACCCTCGCCTCCGTCC	0.622													---	136	---	---	13	---					
ZMPSTE24	10269	broad.mit.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	T	T	rs137854889		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:40756542_40756543insT	uc001cfg.3	+	8	1287_1288	c.1076_1077insT	c.(1075-1077)tgtfs	p.C359fs		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	359						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTTCCTGTGTTTTTTTTTAT	0.332													---	148	---	---	7	---					
WDR78	79819	broad.mit.edu	37	1	67292641	67292641	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:67292641delT	uc001dcx.3	-	14	2257	c.2201delA	c.(2200-2202)cagfs	p.Q734fs	WDR78_uc009waw.3_Frame_Shift_Del_p.Q447fs|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	734										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GACATTCTCCTGTTGCCATAT	0.373													---	206	---	---	64	---					
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	-	-			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr1:154842331_154842333delTGC	uc021pah.1	-	0	422_424	c.108_110delGCA	c.(106-111)cagcaa>caa	p.36_37QQ>Q	KCNN3_uc001ffp.3_In_Frame_Del_p.36_37QQ>Q|KCNN3_uc009wox.1_In_Frame_Del_p.36_37QQ>Q	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	36	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													---	6	---	---	3	---					
ZFP36L2	678	broad.mit.edu	37	2	43452622	43452623	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:43452622_43452623insC	uc002rsv.4	-	1	611_612	c.320_321insG	c.(319-321)ggcfs	p.G107fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	107	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G107G(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGTGCCGCCGCCCCCCGACGG	0.693													---	8	---	---	8	---					
FN1	2335	broad.mit.edu	37	2	216246963	216246964	+	Frame_Shift_Ins	INS	-	CT	CT			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr2:216246963_216246964insCT	uc002vfa.3	-	31	5401_5402	c.5135_5136insAG	c.(5134-5136)agtfs	p.S1712fs	FN1_uc002vfc.3_Frame_Shift_Ins_p.S1621fs|FN1_uc002vfe.3_Frame_Shift_Ins_p.S1621fs|FN1_uc002vff.3_Frame_Shift_Ins_p.S1621fs|FN1_uc002vfg.3_Frame_Shift_Ins_p.S1621fs|FN1_uc002vfh.3_Frame_Shift_Ins_p.S1621fs|FN1_uc002vfi.3_Frame_Shift_Ins_p.S1712fs|FN1_uc002vfj.3_Frame_Shift_Ins_p.S1712fs|FN1_uc002vfb.3_Frame_Shift_Ins_p.S1621fs|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Frame_Shift_Ins_p.S339fs|FN1_uc010fvc.1_Frame_Shift_Ins_p.S74fs|FN1_uc010fvd.1_Frame_Shift_Ins_p.S74fs	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1711	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGAGGCTGACTCTCTCCGCT	0.455													---	55	---	---	16	---					
ARID2	196528	broad.mit.edu	37	12	46245553	46245553	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr12:46245553delC	uc001ros.1	+	14	3647	c.3647delC	c.(3646-3648)acgfs	p.T1216fs	ARID2_uc001ror.3_Frame_Shift_Del_p.T1216fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.T672fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.T843fs|ARID2_uc001rou.1_Frame_Shift_Del_p.T550fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1216					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGTACAAACGCTTCCAGCC	0.483			"""N, S, F"""		hepatocellular carcinoma								---	15	---	---	7	---					
PYGL	5836	broad.mit.edu	37	14	51376772	51376773	+	Frame_Shift_Ins	INS	-	C	C	rs113993984		TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr14:51376772_51376773insC	uc001wyu.3	-	16	2144_2145	c.2017_2018insG	c.(2017-2019)gaafs	p.E673fs	PYGL_uc010tqq.2_Frame_Shift_Ins_p.E639fs	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	673					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCCCGAGGCTTCGGTGCCTGCA	0.475													---	96	---	---	51	---					
POLG	5428	broad.mit.edu	37	15	89870251	89870252	+	In_Frame_Ins	INS	-	CAGGTCCCACTC	CAGGTCCCACTC			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr15:89870251_89870252insCAGGTCCCACTC	uc002bns.4	-	7	1758_1759	c.1476_1477insGAGTGGGACCTG	c.(1474-1479)insGAGTGGGACCTG	p.492_493insEWDL	POLG_uc002bnr.4_In_Frame_Ins_p.492_493insEWDL	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	492					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTAAATTCTTGCAGGTCCCACT	0.584								DNA polymerases (catalytic subunits)					---	221	---	---	11	---					
HOMER3	9454	broad.mit.edu	37	19	19042906	19042906	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr19:19042906delA	uc002nku.2	-	5	1222	c.569delT	c.(568-570)ttcfs	p.F190fs	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|HOMER3_uc010eby.2_Frame_Shift_Del_p.F154fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.F190fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.F190fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.F190fs	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	190					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CTGCAGTGCGAAAAACTCGGC	0.687													---	4	---	---	2	---					
RRBP1	6238	broad.mit.edu	37	20	17617376	17617377	+	Splice_Site	INS	-	G	G			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chr20:17617376_17617377insG	uc002wpw.1	-	6	1163	c.886_splice	c.e6-1	p.E296_splice	RRBP1_uc002wpu.3_Splice_Site_p.E70_splice|RRBP1_uc010gcl.1_Splice_Site_p.E70_splice|RRBP1_uc002wpv.1_Splice_Site_p.E296_splice|RRBP1_uc010gcm.1_Splice_Site	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	729	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCCATCTCCTGGGGGGAAAGT	0.619													---	68	---	---	28	---					
SOWAHD	347454	broad.mit.edu	37	X	118893300	118893301	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BF-A1Q0-01A-21D-A19A-08	TCGA-BF-A1Q0-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8597b25-8541-43e0-b46c-e54e2eaca473	9ae35461-c8d7-4a2e-88b9-8bf14458a975	g.chrX:118893300_118893301insC	uc010nql.3	+	0	725_726	c.670_671insC	c.(670-672)gccfs	p.A224fs		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA.	224																	CGGCCACCGGGCCTGCCACTAC	0.703													---	4	---	---	2	---